diff --git a/notebooks/KBG/KBG_Martinez_PMID_36446582_CreatePhenopackets-v2.ipynb b/notebooks/KBG/KBG_Martinez_PMID_36446582_CreatePhenopackets-v2.ipynb deleted file mode 100644 index e30d800c..00000000 --- a/notebooks/KBG/KBG_Martinez_PMID_36446582_CreatePhenopackets-v2.ipynb +++ /dev/null @@ -1,1561 +0,0 @@ -{ - "cells": [ - { - "cell_type": "markdown", - "id": "5e60e1ea", - "metadata": {}, - "source": [ - "

KBG Syndrome

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Data from Martinez-Cayuelas E, et al. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients. J Med Genet. 2022 Nov 29:jmedgenet-2022-108632. PMID: 36446582..

" - ] - }, - { - "cell_type": "code", - "execution_count": 1, - "id": "1cbf7b69", - "metadata": {}, - "outputs": [], - "source": [ - "import phenopackets as php\n", - "from google.protobuf.json_format import MessageToDict, MessageToJson\n", - "from google.protobuf.json_format import Parse, ParseDict\n", - "import pandas as pd\n", - "pd.set_option('display.max_colwidth', None) # show entire column contents, important!\n", - "from collections import defaultdict\n", - "import numpy as np\n", - "from google.protobuf.json_format import MessageToDict, MessageToJson\n", - "import os\n", - "import sys\n", - "import re\n", - "from pyliftover import LiftOver\n", - "\n", - "sys.path.append('../')\n", - "from pyphetools.creation import *" - ] - }, - { - "cell_type": "code", - "execution_count": 2, - "id": "1c2e2576", - "metadata": {}, - "outputs": [], - "source": [ - "parser = HpoParser()\n", - "hpo_cr = parser.get_hpo_concept_recognizer()\n", - "hpo_version = parser.get_version()\n", - "metadata = MetaData(created_by=\"ORCID:0000-0003-2598-6622\")\n", - "metadata.default_versions_with_hpo(version=hpo_version)" - ] - }, - { - "cell_type": "code", - "execution_count": 3, - "id": "fcc1c878", - "metadata": {}, - "outputs": [], - "source": [ - "data = pd.read_excel('input/Martinez-KBG-SupplTable-340-v2.xlsx', dtype=np.str_)" - ] - }, - { - "cell_type": "code", - "execution_count": 4, - "id": "80654bf9", - "metadata": {}, - "outputs": [ - { - "data": { - "text/html": [ - "
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Patient origin (1=our cohort; 2=literature)Patient IDGender (1=male; 2=female)IDASDADHDHistory of developmental delay (motor and language >18m)ID/ADHD/ASDMacrodontia and/or other dental anomaliesCharacteristic nose (anteverted, bulbous, and/or prominent)...Postnatal short stature <p10N comorbidities (N=7)Hearing Loss and/or otitis mediaOther comorbidities (seizures, cardiopathy, visual, feeding, cryptorchydism)Phenotypic score (columns F:P)Variant type (SNV vs CNV)Exon 9 (Yes/No)c.1903_1907del;p.Lys635GInfs*26 (Yes/No)Deletion size (CNV)Variant
01KBG11YesNaNNaNYesYesNaNNaN...NaN3NaNYes8CNVCNVCNV1700016q24.3(89336307_89354085)x1
11KBG21YesNaNNaNNoYesNaNNaN...NaN1NaNYes4CNVCNVCNV25000016q24.3(89256478_89506223)x1
21KBG32NaNNaNNaNYesNaNNaNNaN...NaN3YesYes5SNVYesNoSNVc.2398_2401del;p.Glu800Asnfs*62
31KBG42YesNaNNaNYesYesNaNNo...No1NoYes6SNVYesNoSNVc.7083del;p.Thr2362Profs*39
41KBG51NaNNaNNaNNaNNaNNaNNaN...NaNNaNNaNNaN0SNVYesYesSNVc.1903_1907del;p.Lys635GInfs*26
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5 rows × 25 columns

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" - ], - "text/plain": [ - " Patient origin (1=our cohort; 2=literature) Patient ID \\\n", - "0 1 KBG1 \n", - "1 1 KBG2 \n", - "2 1 KBG3 \n", - "3 1 KBG4 \n", - "4 1 KBG5 \n", - "\n", - " Gender (1=male; 2=female) ID ASD ADHD \\\n", - "0 1 Yes NaN NaN \n", - "1 1 Yes NaN NaN \n", - "2 2 NaN NaN NaN \n", - "3 2 Yes NaN NaN \n", - "4 1 NaN NaN NaN \n", - "\n", - " History of developmental delay (motor and language >18m) ID/ADHD/ASD \\\n", - "0 Yes Yes \n", - "1 No Yes \n", - "2 Yes NaN \n", - "3 Yes Yes \n", - "4 NaN NaN \n", - "\n", - " Macrodontia and/or other dental anomalies \\\n", - "0 NaN \n", - "1 NaN \n", - "2 NaN \n", - "3 NaN \n", - "4 NaN \n", - "\n", - " Characteristic nose (anteverted, bulbous, and/or prominent) ... \\\n", - "0 NaN ... \n", - "1 NaN ... \n", - "2 NaN ... \n", - "3 No ... \n", - "4 NaN ... \n", - "\n", - " Postnatal short stature 18m)': ['Neurodevelopmental delay', 'HP:0012758'],\n", - " 'ID/ADHD/ASD':['Abnormality of higher mental function', 'HP:0011446'],\n", - " 'Macrodontia and/or other dental anomalies':['Abnormality of dental morphology', 'HP:0006482'],\n", - " 'Characteristic nose (anteverted, bulbous, and/or prominent)': ['Abnormal external nose morphology', 'HP:0010938'],\n", - " 'Triangular face': ['Triangular face', 'HP:0000325'],\n", - " 'Characteristic eyebrows': ['Abnormal eyebrow morphology', 'HP:0000534'],\n", - " 'Long philtrum': ['Long philtrum', 'HP:0000343'],\n", - " 'Characteristic ears (large, prominent, and/or low-set)': ['Abnormality of the outer ear', 'HP:0000356'],\n", - " 'Hand anomalies (brachydactyly or clinodactyly)': ['Abnormality of the hand', 'HP:0001155'],\n", - " 'Postnatal short stature A\n", - "[]\n", - "16q24.3(89283689-89579130)x1\n", - "[('89283689', '89579130')]\n", - "16q24.3(89217281-89512722)x1\n", - "16q24.3(89359701_89379306)x1\n", - "[('89359701', '89379306')]\n", - "16q24.3(89293293_89312898)x1\n", - "16q24.3(89325387_89409147)x1\n", - "[('89325387', '89409147')]\n", - "16q24.3(89258979_89342739)x1\n", - 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"c.7570-1G>C\n", - "[]\n", - "c.7570-1G>C\n", - "[]\n", - "c.7570-1G>C\n", - "[]\n", - "16q24.3(89371838_89607414)x1\n", - "[('89371838', '89607414')]\n", - "16q24.3(89305430_89541006)x1\n", - "16q24.1q24.3 (86680657_89578069)x1\n", - "[('86680657', '89578069')]\n", - "16q24.1q24.3 (86647051_89511661)x1\n", - "16q24.3(89289976-89481007)x1\n", - "[('89289976', '89481007')]\n", - "16q24.3(89223568-89414599)x1\n", - "16q24.3(89481006-89582440)x1\n", - "[('89481006', '89582440')]\n", - "16q24.3(89414598-89516032)x1\n", - "16q24.3(89122739_89501030)x1\n", - "[('89122739', '89501030')]\n", - "16q24.3(89056331_89434622)x1\n", - "16q24.3(89273092_89538759)x1\n", - "[('89273092', '89538759')]\n", - "16q24.3(89206684_89472351)x1\n", - "16q24.2-24.3(87498264_89596942)x1\n", - "[('87498264', '89596942')]\n", - "16q24.2-24.3(87464658_89530534)x1\n", - "16q24.2-24.3(88230961_89363602)x1\n", - "[('88230961', '89363602')]\n", - "16q24.2-24.3(88197355_89297194)x1\n", - "16q24.3(87920000-88100000)x1\n", - "[('87920000', '88100000')]\n", - "16q24.3(87886394-88066394)x1\n", - "0 16q24.3(89269899_89287677)x1\n", - "1 16q24.3(89190070_89439815)x1\n", - "2 c.2398_2401del\n", - "3 c.7083del\n", - "4 c.1903_1907del\n", - " ... \n", - "335 16q24.3(89056331_89434622)x1\n", - "336 16q24.3(89206684_89472351)x1\n", - "337 16q24.2-24.3(87464658_89530534)x1\n", - "338 16q24.2-24.3(88197355_89297194)x1\n", - "339 16q24.3(87886394-88066394)x1\n", - "Name: BetterVariants, Length: 340, dtype: object\n" - ] - } - ], - "source": [ - "count = 0\n", - "\n", - "#URL = \"https://rest.variantvalidator.org/VariantValidator/variantvalidator/%s/%s%%3A%s/%s?content-type=application%%2Fjson\"\n", - "\n", - "tempArray = []\n", - "for val in data['Variant']: \n", - " want = re.findall(r'(.*);', str(val))\n", - " if len(want) == 0:\n", - " print(val)\n", - " want = re.findall(r'.*\\((\\d*)[-|_](\\d*)\\)x.*', str(val))\n", - " print(want)\n", - " if len(want) == 0:\n", - " finalWant = str(val)\n", - " else:\n", - " want = want[0]\n", - " coord1 = want[0]\n", - " coord2 = want[1]\n", - " liftOut1 = lift.convert_coordinate(chromosome='chr16', position=int(coord1))\n", - " liftOut2 = lift.convert_coordinate(chromosome='chr16', position=int(coord2))\n", - " newCoord1 = str(liftOut1[0][1])\n", - " newCoord2 = str(liftOut2[0][1])\n", - " finalWant1 = re.sub(coord1, newCoord1, str(val))\n", - " finalWant = re.sub(coord2, newCoord2, finalWant1)\n", - " print(finalWant)\n", - " else:\n", - " finalWant = want[0]\n", - " tempArray.append(finalWant)\n", - " count = count +1\n", - "\n", - "data['BetterVariants'] = tempArray\n", - "print(data['BetterVariants'])\n" - ] - }, - { - "cell_type": "code", - "execution_count": 10, - "id": "4c286889", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "0 16q24.3(89269899_89287677)x1\n", - "1 16q24.3(89190070_89439815)x1\n", - "2 c.2398_2401del\n", - "3 c.7083del\n", - "4 c.1903_1907del\n", - " ... \n", - "335 16q24.3(89056331_89434622)x1\n", - "336 16q24.3(89206684_89472351)x1\n", - "337 16q24.2-24.3(87464658_89530534)x1\n", - "338 16q24.2-24.3(88197355_89297194)x1\n", - "339 16q24.3(87886394-88066394)x1\n", - "Name: BetterVariants, Length: 340, dtype: object" - ] - }, - "execution_count": 10, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "data['BetterVariants']" - ] - }, - { - "cell_type": "code", - "execution_count": 11, - "id": "ce167196", - "metadata": {}, - "outputs": [], - "source": [ - "genome = 'hg38'\n", - "default_genotype = 'heterozygous'\n", - "transcript = 'NM_013275.6'\n", - "varMapper = VariantColumnMapper(assembly=genome,column_name='BetterVariants', \n", - " transcript=transcript, default_genotype=default_genotype, is_structural_symbol='CNV',\n", - " structure_column='Variant type (SNV vs CNV)')" - ] - }, - { - "cell_type": "code", - "execution_count": 15, - "id": "393dd538", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n" - ] - }, - { - "data": { - "text/html": [ - "
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original column contentssex
01MALE
11MALE
22FEMALE
32FEMALE
41MALE
.........
3351MALE
3361MALE
3371MALE
3381MALE
3391MALE
\n", - "

340 rows × 2 columns

\n", - "
" - ], - "text/plain": [ - " original column contents sex\n", - "0 1 MALE\n", - "1 1 MALE\n", - "2 2 FEMALE\n", - "3 2 FEMALE\n", - "4 1 MALE\n", - ".. ... ...\n", - "335 1 MALE\n", - "336 1 MALE\n", - "337 1 MALE\n", - "338 1 MALE\n", - "339 1 MALE\n", - "\n", - "[340 rows x 2 columns]" - ] - }, - "execution_count": 15, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "sexMapper = SexColumnMapper(male_symbol='1', female_symbol='2', unknown_symbol='NA', column_name='Gender (1=male; 2=female)')\n", - "ageMapper = AgeColumnMapper.by_year('Patient origin (1=our cohort; 2=literature)')\n", - "sexMapper.preview_column(data['Gender (1=male; 2=female)'])" - ] - }, - { - "cell_type": "code", - "execution_count": 21, - "id": "9abf177a", - "metadata": {}, - "outputs": [], - "source": [ - "individual_colname = 'Patient ID'\n", - "pmid = 'PMID:36446582'" - ] - }, - { - "cell_type": "code", - "execution_count": 22, - "id": "560b1f68", - "metadata": {}, - "outputs": [], - "source": [ - "encoder = CohortEncoder(df=data, hpo_cr=hpo_cr, column_mapper_d=column_mapper_d, \n", - " individual_column_name=individual_colname,\n", - " sexmapper=sexMapper,\n", - " agemapper=ageMapper,\n", - " variant_mapper=varMapper,\n", - " metadata=metadata,\n", - " pmid=pmid)" - ] - }, - { - "cell_type": "code", - "execution_count": 23, - "id": "d3cc6844", - "metadata": {}, - "outputs": [], - "source": [ - "encoder.set_disease(disease_id='OMIM:148050', label='KBG syndrome')" - ] - }, - { - "cell_type": "code", - "execution_count": 24, - "id": "bd4db71e", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n", - "Could not map sex symbol nan\n" - ] - }, - { - "data": { - "text/html": [ - "
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sexagephenotypic features
id
KBG1MALEP1YIntellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nLong philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
KBG2MALEP1YIntellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nexcluded: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
KBG3FEMALEP1Ynot measured: Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nnot measured: Abnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nHearing impairment (HP:0000365)
KBG4FEMALEP1YIntellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nexcluded: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nLong philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nexcluded: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nexcluded: Hearing impairment (HP:0000365)
KBG5MALEP1Ynot measured: Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nnot measured: Abnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
............
Willemsen2010_P1MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nexcluded: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nAbnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nShort stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
Willemsen2010_P2MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
Willemsen2010_P3MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nexcluded: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nHearing impairment (HP:0000365)
Willemsen2010_P4MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365)
Youngs2011MALEP2YIntellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nAttention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nAbnormality of dental morphology (HP:0006482)\\nAbnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nShort stature (HP:0004322)\\nHearing impairment (HP:0000365)
\n", - "

340 rows × 3 columns

\n", - "
" - ], - "text/plain": [ - " sex age \\\n", - "id \n", - "KBG1 MALE P1Y \n", - "KBG2 MALE P1Y \n", - "KBG3 FEMALE P1Y \n", - "KBG4 FEMALE P1Y \n", - "KBG5 MALE P1Y \n", - "... ... ... \n", - "Willemsen2010_P1 MALE P2Y \n", - "Willemsen2010_P2 MALE P2Y \n", - "Willemsen2010_P3 MALE P2Y \n", - "Willemsen2010_P4 MALE P2Y \n", - "Youngs2011 MALE P2Y \n", - "\n", - " phenotypic features \n", - "id \n", - "KBG1 Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nLong philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "KBG2 Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nexcluded: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "KBG3 not measured: Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nnot measured: Abnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nHearing impairment (HP:0000365) \n", - "KBG4 Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nexcluded: Abnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nAbnormal eyebrow morphology (HP:0000534)\\nLong philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nexcluded: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nexcluded: Hearing impairment (HP:0000365) \n", - "KBG5 not measured: Intellectual disability (HP:0001249)\\nnot measured: Autistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nnot measured: Abnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nexcluded: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "... ... \n", - "Willemsen2010_P1 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nexcluded: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nAbnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nShort stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "Willemsen2010_P2 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "Willemsen2010_P3 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nexcluded: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nnot measured: Short stature (HP:0004322)\\nHearing impairment (HP:0000365) \n", - "Willemsen2010_P4 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nnot measured: Attention deficit hyperactivity disorder (HP:0007018)\\nnot measured: Neurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nnot measured: Abnormality of dental morphology (HP:0006482)\\nnot measured: Abnormal external nose morphology (HP:0010938)\\nnot measured: Triangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nexcluded: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nexcluded: Short stature (HP:0004322)\\nnot measured: Hearing impairment (HP:0000365) \n", - "Youngs2011 Intellectual disability (HP:0001249)\\nAutistic behavior (HP:0000729)\\nAttention deficit hyperactivity disorder (HP:0007018)\\nNeurodevelopmental delay (HP:0012758)\\nAbnormality of higher mental function (HP:0011446)\\nAbnormality of dental morphology (HP:0006482)\\nAbnormal external nose morphology (HP:0010938)\\nTriangular face (HP:0000325)\\nnot measured: Abnormal eyebrow morphology (HP:0000534)\\nnot measured: Long philtrum (HP:0000343)\\nnot measured: Abnormality of the outer ear (HP:0000356)\\nnot measured: Abnormality of the hand (HP:0001155)\\nShort stature (HP:0004322)\\nHearing impairment (HP:0000365) \n", - "\n", - "[340 rows x 3 columns]" - ] - }, - "execution_count": 24, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "encoder.preview_dataframe()" - ] - }, - { - "cell_type": "code", - "execution_count": 26, - "id": "788499bd", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7083del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7407C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6691dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3590_3594del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3590_3594del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3193A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3309dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2765_2766del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.548_551del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.831del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3046del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3905_3906del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4384dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1731dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1940_1941delinsT/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7180C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7570_7572del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6682del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.227G>A/NM_013275.6?content-type=application%2Fjson\n", - "Not able to get variant for c.227G>A: Expecting to get a gene_variant from Variant Validator but got warning\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1367_1370del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5790C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2593dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1846G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.520C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6701del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2367del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2197C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7834G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7834G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3448C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4171C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3931C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4384dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7534C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3334del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2329_2332del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5790C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6968_6975del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2329_2332del/NM_013275.6?content-type=application%2Fjson\n" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6628G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7753C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4529dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3704_3707del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.866dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5145C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3224_3227del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4528_4529del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1285_1286del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3019C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3180dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3309dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3770_3771del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4107_4108del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4374_4375del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4389_4390del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1385_1388del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4498C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5146G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5205del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5712_5713insT/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6513dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7000C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7192C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7216C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7416C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1457C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1977C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1977C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2175_2178del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2175_2178del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2197C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - 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"https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.505G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1173C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3832A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3832A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3832A>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2751dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3382_3383del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6513dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1318C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1318C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4391_4392del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6184del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3123_3126del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1460_1463del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5483G>T/NM_013275.6?content-type=application%2Fjson\n", - "Not able to get variant for c.5483G>T: Expecting to get a gene_variant from Variant Validator but got warning\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2297_2300del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.915delA/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4218C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4087C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7470+2T>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3888dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3591_3594del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1711_1723del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5123C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1977C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2692C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7356dupC/NM_013275.6?content-type=application%2Fjson\n" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7411_7422del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.211_226+1del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5238_5239del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5488G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5488G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2197C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3221_3222del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5957_5958del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3974del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3222dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2866G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7534C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2650del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3339G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7570-1G>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2305del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7570-1G>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7189C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7570-1G>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5953_5954del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6071_6084del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1763C>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3460G>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2092_2096del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5162C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7607G>C/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4964_4965del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2175_2178del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2372del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1785_1786delGCinsTT/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2130del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4283_4286del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6817_6833del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7535G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "Wrote 340 phenopackets to phenopackets-v2\n" - ] - } - ], - "source": [ - "encoder.output_phenopackets(outdir='phenopackets-v2')" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "a29941f9", - "metadata": {}, - "outputs": [], - "source": [] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "4053abdd", - "metadata": {}, - "outputs": [], - "source": [] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "181d0e20", - "metadata": {}, - "outputs": [], - "source": [] - } - ], - "metadata": { - "kernelspec": { - "display_name": "enviro", - "language": "python", - "name": "enviro" - }, - "language_info": { - "codemirror_mode": { - "name": "ipython", - "version": 3 - }, - "file_extension": ".py", - "mimetype": "text/x-python", - "name": "python", - "nbconvert_exporter": "python", - "pygments_lexer": "ipython3", - "version": "3.10.10" - } - }, - "nbformat": 4, - "nbformat_minor": 5 -} diff --git a/notebooks/KBG/KBG_Martinez_PMID_36446582_CreatePhenopackets.ipynb b/notebooks/KBG/KBG_Martinez_PMID_36446582_CreatePhenopackets.ipynb index 5909778f..1cb67b35 100644 --- a/notebooks/KBG/KBG_Martinez_PMID_36446582_CreatePhenopackets.ipynb +++ b/notebooks/KBG/KBG_Martinez_PMID_36446582_CreatePhenopackets.ipynb @@ -16,21 +16,22 @@ "metadata": {}, "outputs": [], "source": [ + "import os\n", + "import sys\n", + "import re\n", + "from collections import defaultdict\n", + "\n", "import phenopackets as php\n", - "from google.protobuf.json_format import MessageToDict, MessageToJson\n", - "from google.protobuf.json_format import Parse, ParseDict\n", "import pandas as pd\n", - "pd.set_option('display.max_colwidth', None) # show entire column contents, important!\n", - "from collections import defaultdict\n", "import numpy as np\n", + "\n", "from google.protobuf.json_format import MessageToDict, MessageToJson\n", - "import os\n", - "import sys\n", - "import re\n", + "from google.protobuf.json_format import Parse, ParseDict\n", "from pyliftover import LiftOver\n", + "from pyphetools.creation import *\n", "\n", - "sys.path.append('../')\n", - "from pyphetools.creation import *" + "#sys.path.append('../')\n", + "pd.set_option('display.max_colwidth', None) # show entire column contents, important!" ] }, { @@ -49,12 +50,58 @@ }, { "cell_type": "code", - "execution_count": 3, + "execution_count": 22, "id": "fcc1c878", "metadata": {}, "outputs": [], "source": [ - "data = pd.read_excel('input/Martinez-KBG-SupplTable-340-v2.xlsx', dtype=np.str_)" + "data = pd.read_excel('input/Martinez-KBG-SupplTable-340-v2.xlsx', dtype=str)" + ] + }, + { + "cell_type": "code", + "execution_count": 23, + "id": "aa6fc7c3", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "Patient origin (1=our cohort; 2=literature) object\n", + "Patient ID object\n", + "Gender (1=male; 2=female) object\n", + "ID object\n", + "ASD object\n", + "ADHD object\n", + "History of developmental delay (motor and language >18m) object\n", + "ID/ADHD/ASD object\n", + "Macrodontia and/or other dental anomalies object\n", + "Characteristic nose (anteverted, bulbous, and/or prominent) object\n", + "Triangular face object\n", + "Characteristic eyebrows object\n", + "Long philtrum object\n", + "Characteristic ears (large, prominent, and/or low-set) object\n", + "Hand anomalies (brachydactyly or clinodactyly) object\n", + "Postnatal short stature A\n", - "[]\n", - "16q24.3(89283689-89579130)x1\n", - "[('89283689', '89579130')]\n", - "16q24.3(89217281-89512722)x1\n", - "16q24.3(89359701_89379306)x1\n", - "[('89359701', '89379306')]\n", - "16q24.3(89293293_89312898)x1\n", - "16q24.3(89325387_89409147)x1\n", - "[('89325387', '89409147')]\n", - "16q24.3(89258979_89342739)x1\n", - "16q24.3(89556618_89557004)x1\n", - "[('89556618', '89557004')]\n", - "16q24.3(89490210_89490596)x1\n", - "16q24.3(89261399_89419131)x1\n", - "[('89261399', '89419131')]\n", - "16q24.3(89194991_89352723)x1\n", - "16q24.3(88854757_89577705)x1\n", - "[('88854757', '89577705')]\n", - "16q24.3(88788349_89511297)x1\n", - "16q24.3(89542695_89656251)x3\n", - "[('89542695', '89656251')]\n", - "16q24.3(89476287_89589843)x3\n", - "16q24.3(89350931_89439639)x3\n", - "[('89350931', '89439639')]\n", - "16q24.3(89284523_89373231)x3\n", - "16q24.3(89350931_89439639)x3\n", - "[('89350931', '89439639')]\n", - "16q24.3(89284523_89373231)x3\n", - "16q24.3(89350931_89439639)x3\n", - "[('89350931', '89439639')]\n", - "16q24.3(89284523_89373231)x3\n", - "16q24.3(89283689_89572450)x1\n", - "[('89283689', '89572450')]\n", - "16q24.3(89217281_89506042)x1\n", - "16q24.3(89273092_89577046)x1\n", - "[('89273092', '89577046')]\n", - "16q24.3(89206684_89510638)x1\n", - "16q24.2q24.3(87652026_89507330)x1\n", - "[('87652026', '89507330')]\n", - "16q24.2q24.3(87618420_89440922)x1\n", - "16q24.3(89249149_89376186)x1\n", - "[('89249149', '89376186')]\n", - "16q24.3(89182741_89309778)x1\n", - "16q24.3(89199607_89472627)x1\n", - "[('89199607', '89472627')]\n", - "16q24.3(89133199_89406219)x1\n", - "16q24.3(89315698_89548093)x1\n", - "[('89315698', '89548093')]\n", - "16q24.3(89249290_89481685)x1\n", - "16q24.3(88809983_89472627)x1\n", - "[('88809983', '89472627')]\n", - "16q24.3(88743575_89406219)x1\n", - "16q24.2-q24.3(88621654_89383486)x1\n", - "[('88621654', '89383486')]\n", - "16q24.2-q24.3(88555246_89317078)x1\n", - "16q24.3(89328477_89477051)x1\n", - "[('89328477', '89477051')]\n", - "16q24.3(89262069_89410643)x1\n", - "16q24.3(89249149_89376186)x1\n", - "[('89249149', '89376186')]\n", - "16q24.3(89182741_89309778)x1\n", - "16q24.3(89328477_89477051)x1\n", - "[('89328477', '89477051')]\n", - "16q24.3(89262069_89410643)x1\n", - "16q24.3(89161684-89505106)x1\n", - "[('89161684', '89505106')]\n", - "16q24.3(89095276-89438698)x1\n", - "16q24.2-q24.3(88230961_89383486)x1\n", - "[('88230961', '89383486')]\n", - "16q24.2-q24.3(88197355_89317078)x1\n", - "16q24.3(89435258-89553707)x1\n", - "[('89435258', '89553707')]\n", - "16q24.3(89368850-89487299)x1\n", - "16q24.2-q24.3(87925812_89521860)x1\n", - "[('87925812', '89521860')]\n", - "16q24.2-q24.3(87892206_89455452)x1\n", - "16q24.3(88763460_89344049)x1\n", - "[('88763460', '89344049')]\n", - "16q24.3(88697052_89277641)x1\n", - "16q24.3(89461583_89559189)x1\n", - "[('89461583', '89559189')]\n", - "16q24.3(89395175_89492781)x1\n", - "16q24.3(89249149_89376186)x1\n", - "[('89249149', '89376186')]\n", - "16q24.3(89182741_89309778)x1\n", - "16q24.3(87800226-89559330)x1\n", - "[('87800226', '89559330')]\n", - "16q24.3(87766620-89492922)x1\n", - "16q24.3(89507776_89565656)x1\n", - "[('89507776', '89565656')]\n", - "16q24.3(89441368_89499248)x1\n", - "16q24.3(89295307_89559189)x1\n", - "[('89295307', '89559189')]\n", - "16q24.3(89228899_89492781)x1\n", - "16q24.3(89249149_89376186)x1\n", - "[('89249149', '89376186')]\n", - "16q24.3(89182741_89309778)x1\n", - "16q24.3(89343893_89565656)x1\n", - "[('89343893', '89565656')]\n", - "16q24.3(89277485_89499248)x1\n", - "16q24.3(89335228-89472768)x1\n", - "[('89335228', '89472768')]\n", - "16q24.3(89268820-89406360)x1\n", - "16q24.3(89388113_89541926)x1\n", - "[('89388113', '89541926')]\n", - "16q24.3(89321705_89475518)x1\n", - "16q24.3(89388113_89541926)x1\n", - "[('89388113', '89541926')]\n", - "16q24.3(89321705_89475518)x1\n", - "16q24.2-24.3(87954851-89484166)x1\n", - "[('87954851', '89484166')]\n", - "16q24.2-24.3(87921245-89417758)x1\n", - "16q24.3(89238120-89341161)x1\n", - "[('89238120', '89341161')]\n", - "16q24.3(89171712-89274753)x1\n", - "16q24.3(89343893-89584394)x1\n", - "[('89343893', '89584394')]\n", - "16q24.3(89277485-89517986)x1\n", - "16q24.3(89261814-89556020)x3\n", - "[('89261814', '89556020')]\n", - "16q24.3(89195406-89489612)x3\n", - "16q24.3(89332453-89371851)x1\n", - "[('89332453', '89371851')]\n", - "16q24.3(89266045-89305443)x1\n", - "16q24.3(89343893-89497947)x1\n", - "[('89343893', '89497947')]\n", - "16q24.3(89277485-89431539)x1\n", - "16q24.3(89525403-89553574)x1\n", - "[('89525403', '89553574')]\n", - "16q24.3(89458995-89487166)x1\n", - "16q24.3(89547555-89556020)x1\n", - "[('89547555', '89556020')]\n", - "16q24.3(89481147-89489612)x1\n", - "16q24.3(89476167-89484721)x1\n", - "[('89476167', '89484721')]\n", - "16q24.3(89409759-89418313)x1\n", - "16q24.3(89343893-89555548)x1\n", - "[('89343893', '89555548')]\n", - "16q24.3(89277485-89489140)x1\n", - "16q24.3(89349966-89593853)x1\n", - "[('89349966', '89593853')]\n", - "16q24.3(89283558-89527445)x1\n", - "c.7471-1G>C\n", - "[]\n", - "16q24.2-q24.3(88641808-89332049)x1 \n", - "[('88641808', '89332049')]\n", - "16q24.2-q24.3(88575400-89265641)x1 \n", - "16q24.2-q24.3 (88635000_89628950)x1\n", - "[('88635000', '89628950')]\n", - "16q24.2-q24.3 (88568592_89562542)x1\n", - "16q24.3(89475451_89652148)x1\n", - "[('89475451', '89652148')]\n", - "16q24.3(89409043_89585740)x1\n", - "16q24.3 (89161684_89505106)x1\n", - "[('89161684', '89505106')]\n", - "16q24.3 (89095276_89438698)x1\n", - "16q24.2-q24.3(88666177_89472627)x1\n", - "[('88666177', '89472627')]\n", - "16q24.2-q24.3(88599769_89406219)x1\n", - "16q24.2-q24.3 (87340135_89335428)x1\n", - "[('87340135', '89335428')]\n", - "16q24.2-q24.3 (87306529_89269020)x1\n", - "16q24.2-q24.3 (88230961_89363602)x1\n", - "[('88230961', '89363602')]\n", - "16q24.2-q24.3 (88197355_89297194)x1\n", - "16q24.2-q24.3 (88755312_89584412)x1\n", - "[('88755312', '89584412')]\n", - "16q24.2-q24.3 (88688904_89518004)x1\n", - "16q24.2-q24.3 (88556191_89557911)x1\n", - "[('88556191', '89557911')]\n", - "16q24.2-q24.3 (88489783_89491503)x1\n", - "16q24.2-q24.3 (88230760-89363742)x1\n", - "[('88230760', '89363742')]\n", - "16q24.2-q24.3 (88197154-89297334)x1\n", - "16q24.2-q24.3 (88630607_89607742)x1\n", - "[('88630607', '89607742')]\n", - "16q24.2-q24.3 (88564199_89541334)x1\n", - "16q24.2-q24.3 (87183661_89520803)x1\n", - "[('87183661', '89520803')]\n", - "16q24.2-q24.3 (87150055_89454395)x1\n", - "16q24.3(88231090-89388103)x1\n", - "[('88231090', '89388103')]\n", - "16q24.3(88197484-89321695)x1\n", - "16q24.2q24.3 (87502161_89688617)x3\n", - "[('87502161', '89688617')]\n", - "16q24.2q24.3 (87468555_89622209)x3\n", - "c.7470+2T>C\n", - "[]\n", - "c.5123C>A\n", - "[]\n", - "16q24.3(89335426-89371803)x1\n", - "[('89335426', '89371803')]\n", - "16q24.3(89269018-89305395)x1\n", - "c.211_226+1del\n", - "[]\n", - "16q24.3(89283689_89603390)x1\n", - "[('89283689', '89603390')]\n", - "16q24.3(89217281_89536982)x1\n", - "16q24.3(89295307-89660379)x1\n", - "[('89295307', '89660379')]\n", - "16q24.3(89228899-89593971)x1\n", - "16q24.2-q24.3 (89283689_89429735)x1\n", - "[('89283689', '89429735')]\n", - "16q24.2-q24.3 (89217281_89363327)x1\n", - "16q24.3 (89335428_89559189)x1\n", - "[('89335428', '89559189')]\n", - "16q24.3 (89269020_89492781)x1\n", - "16q24.3 (89429676_89559189)x1\n", - "[('89429676', '89559189')]\n", - "16q24.3 (89363268_89492781)x1\n", - "c.7570-1G>C\n", - "[]\n", - "c.7570-1G>C\n", - "[]\n", - "c.7570-1G>C\n", - "[]\n", - "16q24.3(89371838_89607414)x1\n", - "[('89371838', '89607414')]\n", - "16q24.3(89305430_89541006)x1\n", - "16q24.1q24.3 (86680657_89578069)x1\n", - "[('86680657', '89578069')]\n", - "16q24.1q24.3 (86647051_89511661)x1\n", - "16q24.3(89289976-89481007)x1\n", - "[('89289976', '89481007')]\n", - "16q24.3(89223568-89414599)x1\n", - "16q24.3(89481006-89582440)x1\n", - "[('89481006', '89582440')]\n", - "16q24.3(89414598-89516032)x1\n", - "16q24.3(89122739_89501030)x1\n", - "[('89122739', '89501030')]\n", - "16q24.3(89056331_89434622)x1\n", - "16q24.3(89273092_89538759)x1\n", - "[('89273092', '89538759')]\n", - "16q24.3(89206684_89472351)x1\n", - "16q24.2-24.3(87498264_89596942)x1\n", - "[('87498264', '89596942')]\n", - "16q24.2-24.3(87464658_89530534)x1\n", - "16q24.2-24.3(88230961_89363602)x1\n", - "[('88230961', '89363602')]\n", - "16q24.2-24.3(88197355_89297194)x1\n", - "16q24.3(87920000-88100000)x1\n", - "[('87920000', '88100000')]\n", - "16q24.3(87886394-88066394)x1\n", - "0 16q24.3(89269899_89287677)x1\n", - "1 16q24.3(89190070_89439815)x1\n", - "2 c.2398_2401del\n", - "3 c.7083del\n", - "4 c.1903_1907del\n", - " ... \n", - "335 16q24.3(89056331_89434622)x1\n", - "336 16q24.3(89206684_89472351)x1\n", - "337 16q24.2-24.3(87464658_89530534)x1\n", - "338 16q24.2-24.3(88197355_89297194)x1\n", - "339 16q24.3(87886394-88066394)x1\n", - "Name: BetterVariants, Length: 340, dtype: object\n" - ] - } - ], + "outputs": [], "source": [ "count = 0\n", "\n", @@ -673,13 +445,11 @@ "for val in data['Variant']: \n", " want = re.findall(r'(.*);', str(val))\n", " if len(want) == 0:\n", - " print(val)\n", " want = re.findall(r'.*\\((\\d*)[-|_](\\d*)\\)x.*', str(val))\n", - " print(want)\n", " if len(want) == 0:\n", " finalWant = str(val)\n", " else:\n", - " want = want[0]\n", + " want = want[0] ## Double Check if this is 0-based or 1-based coordinates \n", " coord1 = want[0]\n", " coord2 = want[1]\n", " liftOut1 = lift.convert_coordinate(chromosome='chr16', position=int(coord1))\n", @@ -688,19 +458,17 @@ " newCoord2 = str(liftOut2[0][1])\n", " finalWant1 = re.sub(coord1, newCoord1, str(val))\n", " finalWant = re.sub(coord2, newCoord2, finalWant1)\n", - " print(finalWant)\n", " else:\n", " finalWant = want[0]\n", " tempArray.append(finalWant)\n", " count = count +1\n", "\n", - "data['BetterVariants'] = tempArray\n", - "print(data['BetterVariants'])\n" + "data['BetterVariants'] = tempArray\n" ] }, { "cell_type": "code", - "execution_count": 10, + "execution_count": 19, "id": "4c286889", "metadata": {}, "outputs": [ @@ -721,7 +489,7 @@ "Name: BetterVariants, Length: 340, dtype: object" ] }, - "execution_count": 10, + "execution_count": 19, "metadata": {}, "output_type": "execute_result" } @@ -732,7 +500,7 @@ }, { "cell_type": "code", - "execution_count": 11, + "execution_count": 10, "id": "ce167196", "metadata": {}, "outputs": [], @@ -747,7 +515,7 @@ }, { "cell_type": "code", - "execution_count": 15, + "execution_count": 11, "id": "393dd538", "metadata": {}, "outputs": [ @@ -879,7 +647,7 @@ "[340 rows x 2 columns]" ] }, - "execution_count": 15, + "execution_count": 11, "metadata": {}, "output_type": "execute_result" } @@ -892,7 +660,7 @@ }, { "cell_type": "code", - "execution_count": 21, + "execution_count": 12, "id": "9abf177a", "metadata": {}, "outputs": [], @@ -903,7 +671,7 @@ }, { "cell_type": "code", - "execution_count": 22, + "execution_count": 13, "id": "560b1f68", "metadata": {}, "outputs": [], @@ -914,12 +682,12 @@ " agemapper=ageMapper,\n", " variant_mapper=varMapper,\n", " metadata=metadata,\n", - " pmid=pmid)" + " pmid=pmid, )" ] }, { "cell_type": "code", - "execution_count": 23, + "execution_count": 14, "id": "d3cc6844", "metadata": {}, "outputs": [], @@ -929,7 +697,7 @@ }, { "cell_type": "code", - "execution_count": 24, + "execution_count": 15, "id": "bd4db71e", "metadata": {}, "outputs": [ @@ -1094,7 +862,7 @@ "[340 rows x 3 columns]" ] }, - "execution_count": 24, + "execution_count": 15, "metadata": {}, "output_type": "execute_result" } @@ -1105,7 +873,7 @@ }, { "cell_type": "code", - "execution_count": 26, + "execution_count": 16, "id": "788499bd", "metadata": {}, "outputs": [ @@ -1113,8 +881,8 @@ "name": "stdout", "output_type": "stream", "text": [ - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7083del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", @@ -1124,7 +892,7 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3590_3594del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6792dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3193A>T/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3309dup/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", @@ -1134,7 +902,7 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3046del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3905_3906del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4384dup/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1731dup/NM_013275.6?content-type=application%2Fjson\n", @@ -1153,14 +921,14 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6701del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2367del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2197C>T/NM_013275.6?content-type=application%2Fjson\n", - 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"https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4384dup/NM_013275.6?content-type=application%2Fjson\n", @@ -1170,30 +938,30 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2329_2332del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5790C>A/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6968_6975del/NM_013275.6?content-type=application%2Fjson\n", - 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"https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5889del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3310dup/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2395_2398del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2395_2398del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2395_2398del/NM_013275.6?content-type=application%2Fjson\n", @@ -1291,45 +1059,45 @@ "Could not map sex symbol nan\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6053_6057del/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7607G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4558del/NM_013275.6?content-type=application%2Fjson\n" - ] - }, - { - "name": "stdout", - "output_type": "stream", - "text": [ + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4558del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2395A>T/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1389dup/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7552C>T/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2828_2829del/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6340C>T/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6340C>T/NM_013275.6?content-type=application%2Fjson\n" + ] + }, + { + "name": "stdout", + "output_type": "stream", + "text": [ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3045del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4408A>T/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2182_2183del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2182_2183del/NM_013275.6?content-type=application%2Fjson\n", @@ -1361,11 +1129,12 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", + "Not able to get variant for c.1903_1907del: HTTPSConnectionPool(host='rest.variantvalidator.org', port=443): Max retries exceeded with url: /VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson (Caused by SSLError(SSLEOFError(8, 'EOF occurred in violation of protocol (_ssl.c:997)')))\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7471-1G>C/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3224_3227del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6187G>T/NM_013275.6?content-type=application%2Fjson\n", @@ -1379,27 +1148,27 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.505G>T/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n" + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1173C>G/NM_013275.6?content-type=application%2Fjson\n" ] }, { "name": "stdout", "output_type": "stream", "text": [ - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4406G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1173C>G/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3832A>T/NM_013275.6?content-type=application%2Fjson\n", @@ -1413,7 +1182,7 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1318C>T/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", "Could not map sex symbol nan\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7481dup/NM_013275.6?content-type=application%2Fjson\n", @@ -1421,7 +1190,7 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6184del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3123_3126del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1460_1463del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5483G>T/NM_013275.6?content-type=application%2Fjson\n", "Not able to get variant for c.5483G>T: Expecting to get a gene_variant from Variant Validator but got warning\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2297_2300del/NM_013275.6?content-type=application%2Fjson\n", @@ -1440,30 +1209,30 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5123C>A/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1381_1384del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1977C>G/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2408_2412del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2692C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7356dupC/NM_013275.6?content-type=application%2Fjson\n" + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7356dupC/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7411_7422del/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.211_226+1del/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5238_5239del/NM_013275.6?content-type=application%2Fjson\n" ] }, { "name": "stdout", "output_type": "stream", "text": [ - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7411_7422del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.211_226+1del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5238_5239del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5488G>T/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5488G>T/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2197C>T/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3221_3222del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5957_5958del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3974del/NM_013275.6?content-type=application%2Fjson\n", @@ -1479,8 +1248,8 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7570-1G>C/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.5953_5954del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6071_6084del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1763C>A/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.3460G>T/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2092_2096del/NM_013275.6?content-type=application%2Fjson\n", @@ -1488,9 +1257,9 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7607G>C/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4964_4965del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2398_2401del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2175_2178del/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.2372del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1903_1907del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.1785_1786delGCinsTT/NM_013275.6?content-type=application%2Fjson\n", @@ -1499,17 +1268,17 @@ "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.4283_4286del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.6817_6833del/NM_013275.6?content-type=application%2Fjson\n", "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_013275.6%3Ac.7535G>A/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts_v2/NM_013275.6/NM_013275.6?content-type=application%2Fjson\n", - "Wrote 340 phenopackets to phenopackets-v2\n" + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "https://rest.variantvalidator.org/VariantValidator/tools/gene2transcripts/NM_013275.6?content-type=application%2Fjson\n", + "Wrote 340 phenopackets to phenopackets\n" ] } ], "source": [ - "encoder.output_phenopackets(outdir='phenopackets-v2')" + "encoder.output_phenopackets(outdir='phenopackets')" ] }, { @@ -1519,6 +1288,22 @@ "metadata": {}, "outputs": [], "source": [] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "4053abdd", + "metadata": {}, + "outputs": [], + "source": [] + }, + { + "cell_type": "code", + "execution_count": null, + "id": "181d0e20", + "metadata": {}, + "outputs": [], + "source": [] } ], "metadata": { diff --git a/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr.ipynb b/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr.ipynb index c64a32eb..653330e1 100644 --- a/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr.ipynb +++ b/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr.ipynb @@ -1,519 +1,1592 @@ { "cells": [ + { + "cell_type": "markdown", + "id": "9443554a", + "metadata": {}, + "source": [ + "

KBG Syndrome

\n", + "

Data from Martinez-Cayuelas E, et al. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients. J Med Genet. 2022 Nov 29:jmedgenet-2022-108632. PMID: 36446582..

" + ] + }, { "cell_type": "code", - "execution_count": 31, - "id": "cc262559", + "execution_count": 1, + "id": "bede4ebb", "metadata": {}, "outputs": [], "source": [ "import os\n", - "import sys\n", - "\n", - "from genophenocorr import *\n", - "import json\n", - "from google.protobuf.json_format import Parse\n", - "from phenopackets import Phenopacket \n", - "import requests\n", - "import re\n", - "import pickle\n", - "from pyliftover import LiftOver" + "import hpotk" ] }, { "cell_type": "code", "execution_count": 2, - "id": "0cd2c307", + "id": "ef0d35de", + "metadata": {}, + "outputs": [], + "source": [ + "from genophenocorr.preprocessing import configure_caching_patient_creator" + ] + }, + { + "cell_type": "code", + "execution_count": 3, + "id": "b1d687b0", + "metadata": {}, + "outputs": [], + "source": [ + "fpath_hpo = 'hpo_data/hp.json'\n", + "cache_dir = 'annotations'\n", + "fpath_phenopackets = 'phenopackets'\n", + "tx_id = 'NM_013275.6'\n" + ] + }, + { + "cell_type": "code", + "execution_count": 4, + "id": "43fcbd77", + "metadata": {}, + "outputs": [], + "source": [ + "hpo: hpotk.ontology.Ontology = hpotk.ontology.load.obographs.load_ontology(fpath_hpo)" + ] + }, + { + "cell_type": "code", + "execution_count": 5, + "id": "9cbd5776", + "metadata": {}, + "outputs": [], + "source": [ + "pc = configure_caching_patient_creator(hpo, cache_dir = cache_dir)" + ] + }, + { + "cell_type": "code", + "execution_count": 6, + "id": "89e48954", "metadata": {}, + "outputs": [], + "source": [ + "from genophenocorr.preprocessing import load_phenopacket_folder" + ] + }, + { + "cell_type": "code", + "execution_count": 7, + "id": "62ddfcd6", + "metadata": { + "scrolled": true + }, "outputs": [ { - "name": "stdout", + "name": "stderr", "output_type": "stream", "text": [ - "WARNING - Current Protein ID or Transcript ID does not match with Described Isoform\n" + "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P2\n", + "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P12\n", + "Expected at least one HPO term per patient, but received none for patient Reuter2020\n", + "Expected at least one HPO term per patient, but received none for patient Novara, 2017_P10\n", + "Expected at least one variant per patient, but received none for patient Parenti2016_P1\n", + "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P13\n", + "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P8\n", + "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P4\n", + "Expected at least one variant per patient, but received none for patient Low, 2016_P7 (8)\n", + "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P5\n", + "Expected at least one HPO term per patient, but received none for patient KBG31B\n", + "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P9\n", + "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P7\n", + "Expected at least one variant per patient, but received none for patient KBG42\n" ] } ], "source": [ - "allKBGPatients = Cohort('phenopackets/*.json', transcript='NM_013275.6', pickled_dir='pickledVariants')\n" + "patientCohort = load_phenopacket_folder(fpath_phenopackets, pc)" ] }, { "cell_type": "code", - "execution_count": 3, - "id": "566a8417", + "execution_count": 8, + "id": "c39889b9", "metadata": {}, "outputs": [ { "data": { "text/plain": [ - "{'variant_types': {'stop_lost': 34,\n", - " 'coding_sequence_variant': 51,\n", - " '5_prime_UTR_variant': 47,\n", - " '3_prime_UTR_variant': 35,\n", - " 'intron_variant': 63,\n", - " 'feature_truncation': 58,\n", - " 'copy_number_change': 80,\n", - " 'copy_number_decrease': 74,\n", - " 'frameshift_variant': 177,\n", - " 'missense_variant': 8,\n", - " 'stop_gained': 67,\n", - " 'transcript_ablation': 14,\n", - " 'splice_acceptor_variant': 5,\n", - " 'copy_number_increase': 6,\n", - " 'splice_donor_variant': 1,\n", - " 'feature_elongation': 3,\n", - " 'splice_region_variant': 2,\n", - " 'transcript_amplification': 1,\n", - " 'inframe_deletion': 1,\n", - " 'downstream_gene_variant': 1},\n", - " 'variants': {'16q24.3(88743575_89406219)x1': 1,\n", - " 'chr16:g.89284131_89284135del': 10,\n", - " 'chr16:g.89274920C>G': 1,\n", - " 'chr16:g.89284741G>A': 1,\n", - " '16q24.3(88197484-89321695)x1': 1,\n", - " '16q24.3(89217281_89506042)x1': 1,\n", - " 'chr16:g.89284641_89284645del': 34,\n", - " '16q24.3(89409759-89418313)x1': 1,\n", - " 'chr16:g.89284450_89284454del': 1,\n", - " 'chr16:g.89284413del': 1,\n", - " 'chr16:g.89275185dup': 5,\n", - " '16q24.2-q24.3 (88568592_89562542)x1': 1,\n", - " 'chr16:g.89281304_89281305del': 1,\n", - " 'chr16:g.89284345G>A': 3,\n", - " '16q24.3(89395175_89492781)x1': 1,\n", - " 'chr16:g.89283676C>A': 1,\n", - " '16q24.3(89266045-89305443)x1': 1,\n", - " '16q24.3(89409043_89585740)x1': 1,\n", - " 'chr16:g.89285166_89285169del': 8,\n", - " 'chr16:g.89283523G>A': 1,\n", - " 'chr16:g.89284211_89284214del': 2,\n", - " 'chr16:g.89274920C>T': 1,\n", - " '16q24.3(89321705_89475518)x1': 2,\n", - " 'chr16:g.89282949_89282953del': 2,\n", - " 'chr16:g.89284369_89284372del': 3,\n", - " 'chr16:g.89279542G>A': 1,\n", - " '16q24.3(89182741_89309778)x1': 4,\n", - " 'chr16:g.89283895C>A': 1,\n", - " 'chr16:g.89285081_89285084del': 1,\n", - " 'chr16:g.89274958C>G': 3,\n", - " '16q24.3(89441368_89499248)x1': 1,\n", - " '16q24.2-24.3(87921245-89417758)x1': 1,\n", - " 'chr16:g.89280033dup': 2,\n", - " '16q24.3(89171712-89274753)x1': 1,\n", - " '16q24.3(87766620-89492922)x1': 1,\n", - " '16q24.3(89476287_89589843)x3': 1,\n", - " 'chr16:g.89283420_89283423del': 1,\n", - " '16q24.3(89368850-89487299)x1': 1,\n", - " 'chr16:g.89279070A>G': 1,\n", - " 'chr16:g.89282136C>T': 3,\n", - " 'chr16:g.89282611G>A': 1,\n", - " 'chr16:g.89283496del': 1,\n", - " 'chr16:g.89280134_89280135del': 1,\n", - " '16q24.3(89269899_89287677)x1': 1,\n", - " 'chr16:g.89279914C>A': 1,\n", - " 'chr16:g.89284135del': 1,\n", - " '16q24.3 (89095276_89438698)x1': 1,\n", - " 'chr16:g.89283240dup': 2,\n", - " 'chr16:g.89275128G>A': 2,\n", - " '16q24.3(89277485-89431539)x1': 1,\n", - " 'chr16:g.89285627del': 1,\n", - " 'chr16:g.89282963del': 1,\n", - " 'chr16:g.89280653del': 1,\n", - " '16q24.3(88697052_89277641)x1': 1,\n", - " 'chr16:g.89284178del': 1,\n", - " 'chr16:g.89281380G>A': 1,\n", - " '16q24.3(89277485-89489140)x1': 1,\n", - " 'chr16:g.89282836_89282839del': 2,\n", - " 'chr16:g.89279126G>C': 1,\n", - " 'chr16:g.89284565G>C': 3,\n", - " 'chr16:g.89281578_89281579del': 1,\n", - " '16q24.3(89249290_89481685)x1': 1,\n", - " '16q24.3(89268820-89406360)x1': 1,\n", - " '16q24.3(89262069_89410643)x1': 2,\n", - " 'chr16:g.89279853dup': 1,\n", - " 'chr16:g.89284147T>A': 1,\n", - " '16q24.3 (89363268_89492781)x1': 1,\n", - " 'chr16:g.89284171del': 1,\n", - " 'chr16:g.89286065dup': 1,\n", - " 'chr16:g.89284359_89284360del': 3,\n", - " 'chr16:g.89283319_89283322del': 3,\n", - " '16q24.3(89194991_89352723)x1': 1,\n", - " 'chr16:g.89279180del': 1,\n", - " 'chr16:g.89280829_89280830insA': 1,\n", - " 'chr16:g.89283500del': 2,\n", - " 'chr16:g.89282655dup': 1,\n", - " '16q24.3(89284523_89373231)x3': 3,\n", - " 'chr16:g.89282770_89282771del': 1,\n", - " 'chr16:g.89281756C>A': 1,\n", - " 'chr16:g.89282014_89282015del': 1,\n", - " 'chr16:g.89285157_89285160del': 2,\n", - " 'chr16:g.89282159_89282160del': 1,\n", - " 'chr16:g.89283344_89283345del': 1,\n", - " 'chr16:g.89275191T>G': 1,\n", - " 'chr16:g.89280202G>A': 1,\n", - " '16q24.3(89269018-89305395)x1': 1,\n", - " 'chr16:g.89284144_89284147del': 9,\n", - " 'chr16:g.89282439_89282440del': 1,\n", - " 'chr16:g.89279711_89279727del': 1,\n", - " 'chr16:g.89280177_89280180del': 1,\n", - " 'chr16:g.89280752G>T': 2,\n", - " 'chr16:g.89285369G>C': 1,\n", - " '16q24.2-q24.3 (88197154-89297334)x1': 1,\n", - " 'chr16:g.89283850G>A': 1,\n", - " 'chr16:g.89283094G>A': 1,\n", - " 'chr16:g.89284654dup': 1,\n", - " 'chr16:g.89281397G>C': 1,\n", - " '16q24.2q24.3 (87468555_89622209)x3': 1,\n", - " 'chr16:g.89283211del': 1,\n", - " 'chr16:g.89283367dup': 1,\n", - " 'chr16:g.89286064G>C': 1,\n", - " 'chr16:g.89279186dup': 1,\n", - " 'chr16:g.89274957_89274959del': 1,\n", - " 'chr16:g.89282261_89282264del': 1,\n", - " 'chr16:g.89284030G>A': 1,\n", - " 'chr16:g.89285085G>C': 1,\n", - " '16q24.3(89223568-89414599)x1': 1,\n", - " '16q24.3(89228899-89593971)x1': 1,\n", - " 'chr16:g.89285422C>A': 1,\n", - " 'chr16:g.89283718_89283719del': 1,\n", - " 'chr16:g.89282170_89282171del': 1,\n", - " 'chr16:g.89282710T>A': 3,\n", - " '16q24.3(89056331_89434622)x1': 1,\n", - " 'chr16:g.89280488_89280492del': 1,\n", - " 'chr16:g.89268636C>A': 2,\n", - " 'chr16:g.89282455G>A': 2,\n", - " '16q24.2-q24.3(88197355_89317078)x1': 1,\n", - " 'chr16:g.89283390del': 1,\n", - " 'chr16:g.89281054C>A': 2,\n", - " 'chr16:g.89281337del': 1,\n", - " 'chr16:g.89279756dup': 5,\n", - " 'chr16:g.89280590_89280591del': 1,\n", - " 'chr16:g.89282158dup': 2,\n", - " '16q24.2-q24.3(88555246_89317078)x1': 1,\n", - " 'chr16:g.89284601_89284602delinsA': 1,\n", - " 'chr16:g.89281986del': 1,\n", - " '16q24.3(89206684_89472351)x1': 1,\n", - " 'chr16:g.89279121_89279132del': 1,\n", - " 'chr16:g.89283246_89283247del': 1,\n", - 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" 'chr16:g.89285259_89285260del': 1,\n", - " 'chr16:g.89275127C>T': 1,\n", - " 'chr16:g.89305206_89305222del': 1,\n", - " '16q24.2-q24.3 (88688904_89518004)x1': 1,\n", - " 'chr16:g.89283949dup': 1,\n", - " 'chr16:g.89280587_89280588del': 1,\n", - " 'chr16:g.89282772_89282773del': 1,\n", - " 'chr16:g.89280070C>A': 1,\n", - " 'chr16:g.89285156dup': 1,\n", - " 'chr16:g.89279135G>C': 1,\n", - " 'chr16:g.89290721C>A': 1,\n", - " '16q24.3 (89269020_89492781)x1': 1,\n", - " 'chr16:g.89290675_89290678del': 1,\n", - " '16q24.3(89490210_89490596)x1': 1,\n", - " '16q24.3(88788349_89511297)x1': 1,\n", - " 'chr16:g.89282044G>A': 1,\n", - " 'chr16:g.89282950_89282953del': 1,\n", - " '16q24.2-q24.3 (88564199_89541334)x1': 1,\n", - " '16q24.3(89228899_89492781)x1': 1,\n", - " 'chr16:g.89282773dup': 1,\n", - " '16q24.2-24.3(87464658_89530534)x1': 1,\n", - " 'chr16:g.89280355C>A': 1,\n", - " 'chr16:g.89285224G>A': 2,\n", - " 'chr16:g.89285174_89285177del': 2,\n", - " '16q24.2-q24.3(88599769_89406219)x1': 1,\n", - " 'chr16:g.89284819_89284831del': 1,\n", - " 'chr16:g.89283338_89283339del': 1,\n", - " 'chr16:g.89282570del': 1,\n", - " 'chr16:g.89279841del': 1,\n", - " '16q24.2-q24.3 (88197355_89297194)x1': 1,\n", - " 'chr16:g.89283232dup': 1,\n", - " 'chr16:g.89280358del': 1,\n", - " '16q24.3(89305430_89541006)x1': 1,\n", - " 'chr16:g.89284756_89284757delinsAA': 1,\n", - " 'chr16:g.89283082C>A': 1,\n", - " '16q24.3(89458995-89487166)x1': 1,\n", - " '16q24.3(89283303_89541333)x1': 1,\n", - " '16q24.3(89277485_89499248)x1': 1,\n", - " 'chr16:g.89284237del': 1,\n", - " 'chr16:g.89283791dup': 1,\n", - " '16q24.2-24.3(88197355_89297194)x1': 1,\n", - " 'chr16:g.89270870G>A': 1,\n", - " 'chr16:g.89275192C>G': 1,\n", - " 'chr16:g.89282354_89282366del': 1,\n", - " '16q24.3(89277485-89517986)x1': 1,\n", - " 'chr16:g.89283893del': 1,\n", - " 'chr16:g.89284811dup': 1,\n", - " 'chr16:g.89279326G>A': 2,\n", - " '16q24.3(89293293_89312898)x1': 1,\n", - " '16q24.2q24.3(87618420_89440922)x1': 1,\n", - " 'chr16:g.89286104del': 1,\n", - " '16q24.3(89190070_89439815)x1': 1,\n", - " 'chr16:g.89279861del': 1,\n", - " '16q24.3(89283558-89527445)x1': 1,\n", - " '16q24.3(89206684_89510638)x1': 1,\n", - " '16q24.2-q24.3(88575400-89265641)x1 ': 1,\n", - " '16q24.3(89258979_89342739)x1': 1,\n", - " 'chr16:g.89279350G>A': 1,\n", - " 'chr16:g.89281272dup': 1,\n", - " 'chr16:g.89282324G>T': 1,\n", - " '16q24.2-q24.3(87892206_89455452)x1': 1,\n", - " '16q24.3(89217281-89512722)x1': 1,\n", - " 'chr16:g.89279776G>A': 1,\n", - " '16q24.3(89195406-89489612)x3': 1,\n", - " 'chr16:g.89283203C>T': 1,\n", - " 'chr16:g.89282371G>A': 1,\n", - " 'chr16:g.89283086_89283110del': 1,\n", - " 'chr16:g.89284246_89284249del': 1,\n", - " 'chr16:g.89283162_89283163del': 1,\n", - " 'chr16:g.89279353G>A': 1,\n", - " '16q24.3(89133199_89406219)x1': 1,\n", - " 'chr16:g.89284779G>T': 1,\n", - " 'chr16:g.89283349T>A': 1,\n", - " '16q24.3(89481147-89489612)x1': 1,\n", - " 'chr16:g.89282151_89282152del': 1,\n", - " 'chr16:g.89290706G>A': 1,\n", - " '16q24.2-q24.3 (87306529_89269020)x1': 1,\n", - " 'chr16:g.89283322dup': 1,\n", - " 'chr16:g.89279573_89279580del': 1,\n", - " '16q24.1q24.3 (86647051_89511661)x1': 1},\n", - " 'protein_features': {'Region: Disordered 5': 2,\n", - " 'Region: Disordered 3': 4,\n", - " 'Region: Disordered': 2,\n", - " 'Region: Disordered 6': 1,\n", - " 'Region: Disordered 2': 4}}" + "[('HP:0006482', 224),\n", + " ('HP:0011446', 220),\n", + " ('HP:0001249', 194),\n", + " ('HP:0001155', 189),\n", + " ('HP:0012758', 176),\n", + " ('HP:0004322', 150),\n", + " ('HP:0010938', 134),\n", + " ('HP:0000534', 126),\n", + " ('HP:0000343', 121),\n", + " ('HP:0000365', 97),\n", + " ('HP:0000325', 83),\n", + " ('HP:0000356', 77),\n", + " ('HP:0007018', 61),\n", + " ('HP:0000729', 56)]" ] }, - "execution_count": 3, + "execution_count": 8, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "allKBGPatients.list_possible_tests()" + "patientCohort.list_all_phenotypes() ## Add Labels to output" ] }, { "cell_type": "code", - "execution_count": 4, - "id": "037fdd93", + "execution_count": 9, + "id": "f294ca99", "metadata": {}, "outputs": [ { "data": { - 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Patient IDDiseaseGeneVariantProteinHPO Terms
0Goldenberg2016_P13OMIM:148050{ANKRD11}{16q24.3(88743575_89406219)x1}{NP_037407.4}{HP:0001155, HP:0004322}
1Low, 2016_P9 (1)OMIM:148050{ANKRD11}{chr16:g.89284131_89284135del}{NP_037407.4}{HP:0001155, HP:0000729, HP:0011446, HP:000432...
2VanDongen2019_P2OMIM:148050{ANKRD11}{chr16:g.89274920C>G}{NP_037407.4}{}
3Low, 2016_P29 (27)OMIM:148050{ANKRD11}{chr16:g.89284741G>A}{NP_037407.4}{HP:0000365, HP:0001155, HP:0006482}
4Ockeloen2015_P20OMIM:148050{ANKRD11}{16q24.3(88197484-89321695)x1}{NP_037407.4}{HP:0001249, HP:0004322, HP:0011446, HP:0006482}
.....................
335Murray, 2017_P13 (11.1)OMIM:148050{ANKRD11}{chr16:g.89279326G>A}{NP_037407.4}{HP:0007018, HP:0001155, HP:0011446, HP:001093...
336Ockeloen2015_P19OMIM:148050{ANKRD11}{chr16:g.89285224G>A}{NP_037407.4}{HP:0001155, HP:0011446, HP:0004322, HP:000648...
337Gnazzo, 2020_P10OMIM:148050{ANKRD11}{chr16:g.89284144_89284147del}{NP_037407.4}{HP:0001155, HP:0011446, HP:0000343, HP:000432...
338KBG15OMIM:148050{ANKRD11}{chr16:g.89279573_89279580del}{NP_037407.4}{HP:0000729, HP:0000365, HP:0011446, HP:001093...
339Srivastava, 2017_P1OMIM:148050{ANKRD11}{16q24.1q24.3 (86647051_89511661)x1}{NP_037407.4}{HP:0000343, HP:0004322, HP:0012758, HP:000053...
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340 rows × 6 columns

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" - ], "text/plain": [ - " Patient ID Disease Gene \\\n", - "0 Goldenberg2016_P13 OMIM:148050 {ANKRD11} \n", - "1 Low, 2016_P9 (1) OMIM:148050 {ANKRD11} \n", - "2 VanDongen2019_P2 OMIM:148050 {ANKRD11} \n", - "3 Low, 2016_P29 (27) OMIM:148050 {ANKRD11} \n", - "4 Ockeloen2015_P20 OMIM:148050 {ANKRD11} \n", - ".. ... ... ... \n", - "335 Murray, 2017_P13 (11.1) OMIM:148050 {ANKRD11} \n", - "336 Ockeloen2015_P19 OMIM:148050 {ANKRD11} \n", - "337 Gnazzo, 2020_P10 OMIM:148050 {ANKRD11} \n", - "338 KBG15 OMIM:148050 {ANKRD11} \n", - "339 Srivastava, 2017_P1 OMIM:148050 {ANKRD11} \n", - "\n", - " Variant Protein \\\n", - "0 {16q24.3(88743575_89406219)x1} {NP_037407.4} \n", - "1 {chr16:g.89284131_89284135del} {NP_037407.4} \n", - "2 {chr16:g.89274920C>G} {NP_037407.4} \n", - "3 {chr16:g.89284741G>A} {NP_037407.4} \n", - "4 {16q24.3(88197484-89321695)x1} {NP_037407.4} \n", - ".. ... ... \n", - "335 {chr16:g.89279326G>A} {NP_037407.4} \n", - "336 {chr16:g.89285224G>A} {NP_037407.4} \n", - "337 {chr16:g.89284144_89284147del} {NP_037407.4} \n", - "338 {chr16:g.89279573_89279580del} {NP_037407.4} \n", - "339 {16q24.1q24.3 (86647051_89511661)x1} {NP_037407.4} \n", - "\n", - " HPO Terms \n", - "0 {HP:0001155, HP:0004322} \n", - "1 {HP:0001155, HP:0000729, HP:0011446, HP:000432... \n", - "2 {} \n", - "3 {HP:0000365, HP:0001155, HP:0006482} \n", - "4 {HP:0001249, HP:0004322, HP:0011446, HP:0006482} \n", - ".. ... \n", - "335 {HP:0007018, HP:0001155, HP:0011446, HP:001093... \n", - "336 {HP:0001155, HP:0011446, HP:0004322, HP:000648... \n", - "337 {HP:0001155, HP:0011446, HP:0000343, HP:000432... \n", - "338 {HP:0000729, HP:0000365, HP:0011446, HP:001093... \n", - "339 {HP:0000343, HP:0004322, HP:0012758, HP:000053... \n", - "\n", - "[340 rows x 6 columns]" + "[('16_89284635_TGTTT/-', 33),\n", + " ('16_89284130_TTTTT/-', 10),\n", + " ('16_89284141_TTTC/-', 9),\n", + " ('16_89285158_TTTC/-', 8),\n", + " ('16_89279750_-/G', 5),\n", + " ('16_89275181_-/G', 5),\n", + " ('16_89182742_deletion', 4),\n", + " ('16_89217282_deletion', 4),\n", + " ('16_89277486_deletion', 4),\n", + " ('16_89282710_T/A', 3),\n", + " ('16_89284524_duplication', 3),\n", + " ('16_89274958_C/G', 3),\n", + " ('16_89284359_AT/-', 3),\n", + " ('16_89284345_G/A', 3),\n", + " ('16_88197356_deletion', 3),\n", + " ('16_89284565_G/C', 3),\n", + " ('16_89284364_TTTG/-', 3),\n", + " ('16_89283315_CTTT/-', 3),\n", + " ('16_89282136_C/T', 3),\n", + " ('16_89282158_-/T', 2),\n", + " ('16_89282835_TGTT/-', 2),\n", + " ('16_89284210_TCTC/-', 2),\n", + " ('16_89285154_TTTG/-', 2),\n", + " ('16_89282455_G/A', 2),\n", + " ('16_89279326_G/A', 2),\n", + " ('16_89275128_G/A', 2),\n", + " ('16_89321706_deletion', 2),\n", + " ('16_89281054_C/A', 2),\n", + " ('16_89206685_deletion', 2),\n", + " ('16_89262070_deletion', 2),\n", + " ('16_89268636_C/A', 2),\n", + " ('16_89228900_deletion', 2),\n", + " ('16_89280752_G/T', 2),\n", + " ('16_89283233_-/T', 2),\n", + " ('16_89285172_TTCT/-', 2),\n", + " ('16_89095277_deletion', 2),\n", + " ('16_89280029_-/G', 2),\n", + " ('16_89282948_TTTTT/-', 2),\n", + " ('16_89285224_G/A', 2),\n", + " ('16_89283497_G/-', 2),\n", + " ('16_88788350_deletion', 2),\n", + " ('16_89286065_-/T', 1),\n", + " ('16_88743576_deletion', 1),\n", + " ('16_89284811_-/A', 1),\n", + " ('16_89282371_G/A', 1),\n", + " ('16_89279186_-/G', 1),\n", + " ('16_89280070_C/A', 1),\n", + " ('16_89285085_G/C', 1),\n", + " ('16_89363269_deletion', 1),\n", + " ('16_89280202_G/A', 1),\n", + " ('16_89283082_C/A', 1),\n", + " ('16_89279914_C/A', 1),\n", + " ('16_89279135_G/C', 1),\n", + " ('16_89282654_-/G', 1),\n", + " ('16_89481148_deletion', 1),\n", + " ('16_89283559_deletion', 1),\n", + " ('16_89282044_G/A', 1),\n", + " ('16_89279070_A/G', 1),\n", + " ('16_88489784_deletion', 1),\n", + " ('16_89269019_deletion', 1),\n", + " ('16_89282636_CT/-', 1),\n", + " ('16_89133200_deletion', 1),\n", + " ('16_89285153_-/T', 1),\n", + " ('16_89282767_TC/-', 1),\n", + " ('16_89281397_G/C', 1),\n", + " ('16_89279542_G/A', 1),\n", + " ('16_89293294_deletion', 1),\n", + " ('16_89282013_GG/-', 1),\n", + " ('16_89282438_TT/-', 1),\n", + " ('16_86647052_deletion', 1),\n", + " ('16_87306530_deletion', 1),\n", + " ('16_88197155_deletion', 1),\n", + " ('16_89279459_G/-', 1),\n", + " ('16_88599770_deletion', 1),\n", + " ('16_89283362_-/T', 1),\n", + " ('16_89281337_G/-', 1),\n", + " ('16_89280584_TC/-', 1),\n", + " ('16_89441369_deletion', 1),\n", + " ('16_89282324_G/T', 1),\n", + " ('16_89283416_GATT/-', 1),\n", + " ('16_89279841_T/-', 1),\n", + " ('16_89056332_deletion', 1),\n", + " ('16_89490211_deletion', 1),\n", + " ('16_89266046_deletion', 1),\n", + " ('16_89284756_G/AA', 1),\n", + " ('16_89476288_duplication', 1),\n", + " ('16_89284446_TTCTC/-', 1),\n", + " ('16_89269900_deletion', 1),\n", + " ('16_89282611_G/A', 1),\n", + " ('16_88568593_deletion', 1),\n", + " ('16_89283713_CT/-', 1),\n", + " ('16_89281112_GAAGA/-', 1),\n", + " ('16_89283349_T/A', 1),\n", + " ('16_89283203_C/T', 1),\n", + " ('16_89281756_C/A', 1),\n", + " ('16_89280527_-/T', 1),\n", + " ('16_89282434_TC/-', 1),\n", + " ('16_89282353_GGAAGTCCTTTTC/-', 1),\n", + " ('16_89282771_TT/-', 1),\n", + " ('16_89284030_G/A', 1),\n", + " ('16_89285369_G/C', 1),\n", + " ('16_89285079_CTCT/-', 1),\n", + " ('16_89281303_GC/-', 1),\n", + " ('16_89284779_G/T', 1),\n", + " ('16_89282960_C/-', 1),\n", + " ('16_89283949_-/A', 1),\n", + " ('16_89284741_G/A', 1),\n", + " ('16_89194992_deletion', 1),\n", + " ('16_89275192_C/G', 1),\n", + " ('16_89190071_deletion', 1),\n", + " ('16_87766621_deletion', 1),\n", + " ('16_89279362_G/A', 1),\n", + " ('16_89284147_T/A', 1),\n", + " ('16_89281577_TT/-', 1),\n", + " ('16_89281315_GCGAGTCGGCGCAGTCGAACACGAGGTCC/-', 1),\n", + " ('16_89280485_GGGAG/-', 1),\n", + " ('16_89281419_G/T', 1),\n", + " ('16_89195407_duplication', 1),\n", + " ('16_89283333_TG/-', 1),\n", + " ('16_89283246_AA/-', 1),\n", + " ('16_89284130_T/-', 1),\n", + " ('16_89283895_C/A', 1),\n", + " ('16_88697053_deletion', 1),\n", + " ('16_89274955_CTC/-', 1),\n", + " ('16_89274920_C/G', 1),\n", + " ('16_89283850_G/A', 1),\n", + " ('16_89275127_C/T', 1),\n", + " ('16_89284649_-/T', 1),\n", + " ('16_89458996_deletion', 1),\n", + " ('16_89279126_G/C', 1),\n", + " ('16_89280355_C/A', 1),\n", + " ('16_89283791_-/A', 1),\n", + " ('16_88564200_deletion', 1),\n", + " ('16_89305205_CCTGTGTCCGAGTCCTT/-', 1),\n", + " ('16_87892207_deletion', 1),\n", + " ('16_89395176_deletion', 1),\n", + " ('16_89281380_G/A', 1),\n", + " ('16_89282013_-/G', 1),\n", + " ('16_89279567_CTTCGGGG/-', 1),\n", + " ('16_89283232_-/C', 1),\n", + " ('16_89279120_GCCCGTGTAGGT/-', 1),\n", + " ('16_89268821_deletion', 1),\n", + " ('16_87150056_deletion', 1),\n", + " ('16_89280830_-/A', 1),\n", + " ('16_89279851_-/C', 1),\n", + " ('16_89284412_C/-', 1),\n", + " ('16_89286100_G/-', 1),\n", + " ('16_89409760_deletion', 1),\n", + " ('16_89282167_TC/-', 1),\n", + " ('16_89290721_C/A', 1),\n", + " ('16_89284819_TTGTCAGTCTCGT/-', 1),\n", + " ('16_89279350_G/A', 1),\n", + " ('16_89409044_deletion', 1),\n", + " ('16_89280588_TG/-', 1),\n", + " ('16_87886395_deletion', 1),\n", + " ('16_89283343_TA/-', 1),\n", + " ('16_89283892_C/-', 1),\n", + " ('16_89280175_CGTC/-', 1),\n", + " ('16_89284601_GG/A', 1),\n", + " ('16_89281984_C/-', 1),\n", + " ('16_89283159_TC/-', 1),\n", + " ('16_89283320_TT/-', 1),\n", + " ('16_89279860_C/-', 1),\n", + " ('16_89283208_T/-', 1),\n", + " ('16_89283676_C/A', 1),\n", + " ('16_88197485_deletion', 1),\n", + " ('16_89286064_G/C', 1),\n", + " ('16_89275191_T/G', 1),\n", + " ('16_89282150_TT/-', 1),\n", + " ('16_89284242_TTCT/-', 1),\n", + " ('16_87618421_deletion', 1),\n", + " ('16_89285422_C/A', 1),\n", + " ('16_87921246_deletion', 1),\n", + " ('16_89279179_G/-', 1),\n", + " ('16_89282256_TCTT/-', 1),\n", + " ('16_89284175_T/-', 1),\n", + " ('16_89279776_G/A', 1),\n", + " ('16_89171713_deletion', 1),\n", + " ('16_89280132_GA/-', 1),\n", + " ('16_89283523_G/A', 1),\n", + " ('16_89281268_-/G', 1),\n", + " ('16_89249291_deletion', 1),\n", + " ('16_89275110_G/A', 1),\n", + " ('16_89283081_TCCTCCTTCTCCTGGAGGCCGTCCG/-', 1),\n", + " ('16_89280653_G/-', 1),\n", + " ('16_89283776_CT/-', 1),\n", + " ('16_89284696_C/A', 1),\n", + " ('16_89282948_TTTT/-', 1),\n", + " ('16_89282336_G/C', 1),\n", + " ('16_89280358_G/-', 1),\n", + " ('16_89283496_C/-', 1),\n", + " ('16_89368851_deletion', 1),\n", + " ('16_89281396_C/A', 1),\n", + " ('16_89269021_deletion', 1),\n", + " ('16_89290706_G/A', 1),\n", + " ('16_89282152_TC/-', 1),\n", + " ('16_89223569_deletion', 1),\n", + " ('16_89283320_-/T', 1),\n", + " ('16_88575401_deletion', 1),\n", + " ('16_89258980_deletion', 1),\n", + " ('16_88688905_deletion', 1),\n", + " ('16_89283389_T/-', 1),\n", + " ('16_87468556_duplication', 1),\n", + " ('16_89290675_ATGC/-', 1),\n", + " ('16_89270870_G/A', 1),\n", + " ('16_89285627_T/-', 1),\n", + " ('16_89285256_GA/-', 1),\n", + " ('16_89274920_C/T', 1),\n", + " ('16_87464659_deletion', 1),\n", + " ('16_89282134_T/A', 1),\n", + " ('16_89279709_GTGTTCGGGGCGGGGCC/-', 1),\n", + " ('16_89305431_deletion', 1),\n", + " ('16_89284237_A/-', 1),\n", + " ('16_89283304_deletion', 1),\n", + " ('16_89280458_GGGCAGAGCGTACG/-', 1),\n", + " ('16_89414599_deletion', 1),\n", + " ('16_89282568_A/-', 1),\n", + " ('16_88555247_deletion', 1),\n", + " ('16_89283094_G/A', 1),\n", + " ('16_89279353_G/A', 1),\n", + " ('16_89282771_-/T', 1),\n", + " ('16_89284170_T/-', 1)]" ] }, - "execution_count": 4, + "execution_count": 9, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "allKBGPatients.get_cohort_description_df()" + "patientCohort.list_all_variants()" ] }, { "cell_type": "code", - "execution_count": 5, - "id": "0d4180b1", + "execution_count": 10, + "id": "8136e3b2", + "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "['KBG30',\n", + " 'Gnazzo, 2020_P28',\n", + " 'Gnazzo, 2020_P10',\n", + " 'Murray, 2017_P3 (1.3)',\n", + " 'Low, 2016_P12 (13)',\n", + " 'Miyatake, 2017_P3',\n", + " 'KBG62',\n", + " 'KBG29',\n", + " 'Crippa2015_P3',\n", + " 'Goldenberg2016_P13',\n", + " 'Ockeloen2015_P14',\n", + " 'Novara, 2017_P8',\n", + " 'KBG58',\n", + " 'KBG51',\n", + " 'Cucco, 2020 (Patient B)',\n", + " 'Rentas2021_P1',\n", + " 'Goldenberg2016_P26',\n", + " 'KBG27',\n", + " 'KBG59',\n", + " 'Goldenberg2016_P9',\n", + " 'KBG20',\n", + " 'KBG19',\n", + " 'Goldenberg2016_P29',\n", + " 'VanDongen2019_P13',\n", + " 'KBG28',\n", + " 'Gnazzo, 2020_P11',\n", + " 'KBG15',\n", + " 'Jin Kim, 2020_P2',\n", + " 'Parenti2021_P7',\n", + " 'Murray, 2017_P16 (13.1)',\n", + " 'Low, 2016_P3 (4)',\n", + " 'KBG13',\n", + " 'Parenti2021_P19',\n", + " 'Parenti2021_P8',\n", + " 'Gnazzo, 2020_P27',\n", + " 'Isrie, 2012_P2',\n", + " 'Novara, 2017_P9',\n", + " 'Gnazzo, 2020_P3',\n", + " 'Ockeloen2015_P13',\n", + " 'Gnazzo, 2020_P23',\n", + " 'Kutkowska-Kazmierczak2021_P12',\n", + " 'Low, 2016_P6 (7)',\n", + " 'Scarano, 2013_P12',\n", + " 'Kutkowska-Kazmierczak2021_P9',\n", + " 'KBG6',\n", + " 'Goldenberg2016_P34',\n", + " 'Goldenberg2016_P1',\n", + " 'Kim, 2015_P2',\n", + " 'KBG44',\n", + " 'KBG10A',\n", + " 'VanDongen2019_P10',\n", + " 'Murray, 2017_P6 (3.2)',\n", + " 'VanDongen2019_P6',\n", + " 'Murray, 2017_P7 (3.3)',\n", + " 'Walz2015_PC',\n", + " 'KBG34',\n", + " 'Murray, 2017_P13 (11.1)',\n", + " 'Kutkowska-Kazmierczak2021_P22',\n", + " 'Kutkowska-Kazmierczak2021_P1',\n", + " 'Gnazzo, 2020_P18',\n", + " 'Murray, 2017_P4 (2.1)',\n", + " 'Ockeloen2015_P4',\n", + " 'Walz2015_PB',\n", + " 'Parenti2021_P2',\n", + " 'Gnazzo, 2020_P26',\n", + " 'Novara, 2017_P10',\n", + " 'KBG24',\n", + " 'KBG17',\n", + " 'Low, 2016_P1 (19)',\n", + " 'KBG46',\n", + " 'Low, 2016_P5 (6)',\n", + " 'Gnazzo, 2020_P4',\n", + " 'Low, 2016_P8 (33)',\n", + " 'Parenti2021_P13',\n", + " 'KBG64',\n", + " 'Goldenberg2016_P16',\n", + " 'Ockeloen2015_P18',\n", + " 'Parenti2021_P22',\n", + " 'Parenti2021_P15',\n", + " 'Low, 2016_P7 (8)',\n", + " 'Parenti2021_P4',\n", + " 'Sirmaci2011_P4 (previously published Brancati, 2004)',\n", + " 'Kutkowska-Kazmierczak2021_P21',\n", + " 'Parenti2021_P9',\n", + " 'Goldenberg2016_P17',\n", + " 'KBG16',\n", + " 'Lim2014',\n", + " 'Youngs2011',\n", + " 'Goldenberg2016_P15',\n", + " 'Scarano, 2013_P8',\n", + " 'Goldenberg2016_P7',\n", + " 'Low, 2016_P2 (26)',\n", + " 'Gnazzo, 2020_P20',\n", + " 'Parenti2021_P18',\n", + " 'Low, 2016_P28 (25)',\n", + " 'Khalifa, 2013_P1B',\n", + " 'Sayed, 2020_P1',\n", + " 'KBG7',\n", + " 'Goldenberg2016_P8',\n", + " 'Parenti2021_P12',\n", + " 'Kutkowska-Kazmierczak2021_P4',\n", + " 'Novara, 2017_P5',\n", + " 'Parenti2021_P23',\n", + " 'Scarano, 2013_P7',\n", + " 'KBG65',\n", + " 'Ockeloen2015_P5',\n", + " 'Goldenberg2016_P10',\n", + " 'Parenti2021_P20',\n", + " 'Crippa2015_P1',\n", + " 'Sirmaci2011_P3/F1? (previously published Tekin, 2004)',\n", + " 'Ockeloen2015_P15',\n", + " 'Gnazzo, 2020_P5',\n", + " 'Scarano, 2013_P2',\n", + " 'Murray, 2017_P1 (1.1)',\n", + " 'Willemsen2010_P2',\n", + " 'KBG63',\n", + " 'KBG11',\n", + " 'Ockeloen2015_P11',\n", + " 'Ockeloen2015_P2',\n", + " 'KBG48',\n", + " 'Scarano, 2013_P6',\n", + " 'Kutkowska-Kazmierczak2021_P6',\n", + " 'Goldenberg2016_P23',\n", + " 'Ockeloen2015_P1',\n", + " 'Low, 2016_P13 (27)',\n", + " 'Alves, 2019',\n", + " 'Gnazzo, 2020_P25',\n", + " 'Sacharow, 2012_P1',\n", + " 'Ockeloen2015_P20',\n", + " 'Goldenberg2016_P20',\n", + " 'Goldenberg2016_P38',\n", + " 'KBG40',\n", + " 'Murray, 2017_P10 (7.1.)',\n", + " 'KBG22',\n", + " 'Low, 2016_P10 (18)',\n", + " 'Ockeloen2015_P19',\n", + " 'Miyatake, 2017_P1',\n", + " 'DeBernardi2018',\n", + " 'Gnazzo, 2020_P29',\n", + " 'Low, 2016_P20 (14)',\n", + " 'Murray, 2017_P2 (1.2)',\n", + " 'Low, 2016_32 (30)',\n", + " 'Srivastava, 2017_P1',\n", + " 'Novara, 2017_P2',\n", + " 'Novara, 2017_P7',\n", + " 'Ockeloen2015_P6',\n", + " 'KBG4',\n", + " 'Novara, 2017_P12',\n", + " 'Parenti2016_P2',\n", + " 'Gnazzo, 2020_P31',\n", + " 'Gnazzo, 2020_P14',\n", + " 'Gnazzo, 2020_P22',\n", + " 'Parenti2021_P14',\n", + " 'Goldenberg2016_P14',\n", + " 'Scarano, 2013_P3',\n", + " 'Sirmaci2011_P2/F1? (previously published Tekin, 2004)',\n", + " 'Bianchi, 2018',\n", + " 'KBG8B',\n", + " 'Low, 2016_P14 (2)',\n", + " 'Khalifa, 2013_P1A',\n", + " 'KBG12',\n", + " 'Sirmaci2011_P1/F1? (previously published Tekin, 2004)',\n", + " 'Ockeloen2015_P16',\n", + " 'Goldenberg2016_P33',\n", + " 'Parenti2016_P1',\n", + " 'Parenti2021_P10',\n", + " 'KBG31B',\n", + " 'Ockeloen2015_P8',\n", + " 'Kutkowska-Kazmierczak2021_P14',\n", + " 'KBG9',\n", + " 'Low, 2016_31 (29)',\n", + " 'Gnazzo, 2020_P9',\n", + " 'KBG55',\n", + " 'Low, 2016_P21 (15)',\n", + " 'Ockeloen2015_P12',\n", + " 'Walz2015_PD',\n", + " 'Isrie, 2012_P1',\n", + " 'KBG36',\n", + " 'KBG56',\n", + " 'Ockeloen2015_P10',\n", + " 'Willemsen2010_P1',\n", + " 'Parenti2021_P5',\n", + " 'KBG25',\n", + " 'Goldenberg2016_P19',\n", + " 'Kutkowska-Kazmierczak2021_P18',\n", + " 'Walz2015_PA',\n", + " 'Bucerzan2020',\n", + " 'Kutkowska-Kazmierczak2021_P2',\n", + " 'KBG31A',\n", + " 'VanDongen2019_P12',\n", + " 'Behnert, 2018',\n", + " 'Goldenberg2016_P30',\n", + " 'KBG1',\n", + " 'Miyatake, 2017_P2',\n", + " 'Goldenberg2016_P36',\n", + " 'Goldenberg2016_P2',\n", + " 'Kutkowska-Kazmierczak2021_P15',\n", + " 'Murray, 2017_P11 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SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=391, end=928)))),\n", + " ProteinMetadata(id=NP_001305436.1, label=Cytoplasmic tRNA 2-thiolation protein 2, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=24)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=188, end=217)))),\n", + " ProteinMetadata(id=NP_001305442.1, label=Cytoplasmic tRNA 2-thiolation protein 2, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=24)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=188, end=217)))),\n", + " ProteinMetadata(id=NP_001305453.1, label=Trafficking protein particle complex subunit 2-like protein, features=()),\n", + " ProteinMetadata(id=NP_001305454.1, label=Trafficking protein particle complex subunit 2-like protein, features=()),\n", + " ProteinMetadata(id=NP_001305455.1, 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interaction with PRKAR2A, start=485, end=506)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=603, end=653)))),\n", + " ProteinMetadata(id=NP_037407.4, label=Ankyrin repeat domain-containing protein 11, features=(SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=ANK 1, start=167, end=196)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=ANK 2, start=200, end=229)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=ANK 3, start=233, end=262)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=ANK 4, start=266, end=292)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=90)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=128, end=169)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=289, end=380)), SimpleProteinFeature(type=FeatureType.REGION, 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ProteinMetadata(id=NP_055242.1, label=Copine-7, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=C2 1, start=2, end=133)), SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=C2 2, start=212, end=339)), SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=VWFA, start=382, end=581)))),\n", + " ProteinMetadata(id=NP_057293.1, label=Trafficking protein particle complex subunit 2-like protein, features=()),\n", + " ProteinMetadata(id=NP_060036.2, label=Kelch domain-containing protein 4, features=(SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=Kelch 1, start=77, end=129)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=Kelch 2, start=133, end=187)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=Kelch 3, start=188, end=241)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=Kelch 4, start=243, end=289)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=Kelch 5, start=308, end=361)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=Kelch 6, start=443, end=494)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=33)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=346, end=379)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=402, end=432)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=481, end=520)))),\n", + " ProteinMetadata(id=NP_060339.2, label=Protein BANP, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=BEN, start=226, end=322)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with CUX1 and HDAC1, start=152, end=342)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=168, end=196)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=327, end=364)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=DNA-binding, start=342, end=393)))),\n", + " ProteinMetadata(id=NP_065706.2, label=Junctophilin-3, features=(SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=MORN 1, start=15, end=37)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=MORN 2, start=39, end=60)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=MORN 3, start=61, end=82)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=MORN 4, start=83, end=105)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=MORN 5, start=107, end=129)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=MORN 6, start=130, end=152)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=MORN 7, start=288, end=310)), SimpleProteinFeature(type=FeatureType.REPEAT, info=FeatureInfo(name=MORN 8, start=311, 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features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=118)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=143, end=165)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with GMNN, start=150, end=190)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=383, end=415)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with LRWD1, start=451, end=546)), SimpleProteinFeature(type=FeatureType.MOTIF, info=FeatureInfo(name=PIP-box K+4 motif, start=1, end=23)), SimpleProteinFeature(type=FeatureType.MOTIF, info=FeatureInfo(name=Cyclin-binding motif, start=68, end=70)))),\n", + " ProteinMetadata(id=NP_150254.1, label=Large ribosomal subunit protein eL13, features=()),\n", + " ProteinMetadata(id=NP_524576.2, label=Protein BANP, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=BEN, start=226, end=322)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with CUX1 and HDAC1, start=152, end=342)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=168, end=196)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=327, end=364)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=DNA-binding, start=342, end=393)))),\n", + " ProteinMetadata(id=NP_653205.3, label=Zinc finger CCCH domain-containing protein 18, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=222)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=391, end=928)))),\n", + " ProteinMetadata(id=NP_705900.1, label=Copine-7, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=C2 1, start=2, end=133)), SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=C2 2, start=212, end=339)), SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=VWFA, start=382, end=581)))),\n", + " ProteinMetadata(id=NP_722520.2, label=Zinc finger protein ZFPM1, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=93)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=114, end=133)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with TACC3, start=330, end=341)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=384, end=409)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=438, end=460)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=473, end=515)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=605, end=681)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=708, end=810)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with CTBP2, start=794, end=800)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=889, end=971)))),\n", + " ProteinMetadata(id=NP_777577.2, label=Malonate--CoA ligase ACSF3, mitochondrial, features=()),\n", + " ProteinMetadata(id=NP_787127.1, label=Protein CBFA2T3, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=TAFH, start=171, end=266)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Mediates localization to the nucleus, start=1, end=435)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Mediates interaction with PDE7A (in isoform 2), start=1, end=430)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Required for nucleolar targeting (in isoform 1), start=1, end=127)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=109)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with ZBTB33, start=145, end=242)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with HIF1A, start=176, end=268)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=284, end=342)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Nervy homology region 2 (NHR2); essential for down-regulation of PFKFB3, PFKFB4 and PDK1 expression, start=394, end=412)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=434, end=472)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Nervy homology region 3 (NHR3); essential for down-regulation of PFKFB3, PFKFB4 and PDK1 expression, start=485, end=533)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Mediates interaction with PRKAR2A, start=485, end=506)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=603, end=653)))),\n", + " ProteinMetadata(id=NP_840101.1, label=Zinc finger protein SNAI3, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=SNAG domain, start=1, end=20)),)),\n", + " ProteinMetadata(id=NP_849163.1, label=E3 ubiquitin-protein ligase RNF166, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=UIM, start=221, end=237)),)),\n", + " ProteinMetadata(id=NP_872337.2, label=Zinc finger protein 778, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=KRAB, start=42, end=110)),)),\n", + " ProteinMetadata(id=NP_955399.1, label=Paraplegin, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=108, end=133)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with PPIF, start=701, end=795)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=751, end=795))))}" + ] + }, + "execution_count": 14, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "patientCohort.all_proteins" + ] + }, + { + "cell_type": "code", + "execution_count": 15, + "id": "ec6c204f", + "metadata": {}, + "outputs": [], + "source": [ + "from genophenocorr.analysis import CohortAnalysis" + ] + }, + { + "cell_type": "code", + "execution_count": 16, + "id": "df922d31", + "metadata": {}, + "outputs": [], + "source": [ + "analysis = CohortAnalysis(patientCohort, 'NM_013275.6', hpo, include_unmeasured=False)" + ] + }, + { + "cell_type": "code", + "execution_count": 17, + "id": "91809a38", + "metadata": {}, + "outputs": [], + "source": [ + "from genophenocorr.constants import VariantEffect" + ] + }, + { + "cell_type": "code", + "execution_count": 18, + "id": "7a83a5ca", "metadata": {}, + "outputs": [ + { + "data": { + "text/plain": [ + "'SO:0001589'" + ] + }, + "execution_count": 18, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "VariantEffect.FRAMESHIFT_VARIANT.value" + ] + }, + { + "cell_type": "code", + "execution_count": 19, + "id": "57dd0e23", + "metadata": { + "scrolled": false + }, "outputs": [ { "data": { @@ -528,217 +1601,227 @@ " vertical-align: top;\n", " }\n", "\n", - " .dataframe thead th {\n", - " text-align: right;\n", + " .dataframe thead tr th {\n", + " text-align: left;\n", " }\n", "\n", "\n", " \n", - " \n", + " \n", + " \n", + " \n", + " \n", " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", + " \n", + " \n", + " \n", + " \n", + " \n", + " \n", + " \n", + " \n", " \n", " \n", " \n", " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", + " \n", + " \n", + " \n", + " \n", + " \n", + " \n", " \n", " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", + " \n", + " \n", + " \n", + " \n", + " \n", + " \n", " \n", " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", + " \n", 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With frameshift_variantWithout frameshift_variant1 w/ hpo1 w/o hpo2 w/ hpo2 w/o hpopvaladjusted pval
CountPercentCountPercentp-value
HP:0000325 - Triangular face141768270.009610.134544HP:0011446 (Abnormality of higher mental function)11482.61%10694.64%0.003347
HP:0001155 - Abnormality of the hand3223155600.0508440.355911HP:0001249 (Intellectual disability)10071.43%9486.24%0.005575
HP:0000356 - Abnormality of the outer ear18858120.1639710.693027HP:0007018 (Attention deficit hyperactivity disorder)3581.40%2666.67%0.139030
HP:0007018 - Attention deficit hyperactivity disorder9651150.1980080.693027HP:0000325 (Triangular face)4571.43%3858.46%0.141518
HP:0011446 - Abnormality of higher mental function403178270.3144220.880382HP:0001155 (Abnormality of the hand)10067.11%8972.36%0.358360
HP:0012758 - Neurodevelopmental delay42313250.4105440.917446HP:0012758 (Neurodevelopmental delay)8694.51%9096.77%0.494487
HP:0004322 - Short stature3530115770.4669210.917446HP:0006482 (Abnormality of dental morphology)12485.52%10081.97%0.504534
HP:0006482 - Abnormality of dental morphology4210182320.5242550.917446HP:0000365 (Hearing impairment)5280.00%4576.27%0.666875
HP:0000534 - Abnormal eyebrow morphology216104230.5957370.926702HP:0010938 (Abnormal external nose morphology)7189.87%6392.65%0.772039
HP:0000365 - Hearing impairment22574220.7941120.947301HP:0000729 (Autistic behavior)2756.25%2960.42%0.836156
HP:0001249 - Intellectual disability346158230.7955460.947301HP:0000534 (Abnormal eyebrow morphology)7082.35%5680.00%0.836437
HP:0000729 - Autistic behavior131141290.8119720.947301HP:0000343 (Long philtrum)6678.57%5580.88%0.840197
HP:0010938 - Abnormal external nose morphology212111111.01.0HP:0004322 (Short stature)7658.46%7457.36%0.900140
HP:0000343 - Long philtrum185102261.01.0HP:0000356 (Abnormality of the outer ear)3778.72%4080.00%1.000000
\n", "" ], "text/plain": [ - " 1 w/ hpo 1 w/o hpo \\\n", - "HP:0000325 - Triangular face 14 17 \n", - "HP:0001155 - Abnormality of the hand 32 23 \n", - "HP:0000356 - Abnormality of the outer ear 18 8 \n", - "HP:0007018 - Attention deficit hyperactivity di... 9 6 \n", - "HP:0011446 - Abnormality of higher mental function 40 3 \n", - "HP:0012758 - Neurodevelopmental delay 42 3 \n", - "HP:0004322 - Short stature 35 30 \n", - "HP:0006482 - Abnormality of dental morphology 42 10 \n", - "HP:0000534 - Abnormal eyebrow morphology 21 6 \n", - "HP:0000365 - Hearing impairment 22 5 \n", - "HP:0001249 - Intellectual disability 34 6 \n", - "HP:0000729 - Autistic behavior 13 11 \n", - "HP:0010938 - Abnormal external nose morphology 21 2 \n", - "HP:0000343 - Long philtrum 18 5 \n", + " With frameshift_variant \\\n", + " Count \n", + "HP:0011446 (Abnormality of higher mental function) 114 \n", + "HP:0001249 (Intellectual disability) 100 \n", + "HP:0007018 (Attention deficit hyperactivity dis... 35 \n", + "HP:0000325 (Triangular face) 45 \n", + "HP:0001155 (Abnormality of the hand) 100 \n", + "HP:0012758 (Neurodevelopmental delay) 86 \n", + "HP:0006482 (Abnormality of dental morphology) 124 \n", + "HP:0000365 (Hearing impairment) 52 \n", + "HP:0010938 (Abnormal external nose morphology) 71 \n", + "HP:0000729 (Autistic behavior) 27 \n", + "HP:0000534 (Abnormal eyebrow morphology) 70 \n", + "HP:0000343 (Long philtrum) 66 \n", + "HP:0004322 (Short stature) 76 \n", + "HP:0000356 (Abnormality of the outer ear) 37 \n", "\n", - " 2 w/ hpo 2 w/o hpo \\\n", - "HP:0000325 - Triangular face 68 27 \n", - "HP:0001155 - Abnormality of the hand 155 60 \n", - "HP:0000356 - Abnormality of the outer ear 58 12 \n", - "HP:0007018 - Attention deficit hyperactivity di... 51 15 \n", - "HP:0011446 - Abnormality of higher mental function 178 27 \n", - "HP:0012758 - Neurodevelopmental delay 132 5 \n", - "HP:0004322 - Short stature 115 77 \n", - "HP:0006482 - Abnormality of dental morphology 182 32 \n", - "HP:0000534 - Abnormal eyebrow morphology 104 23 \n", - "HP:0000365 - Hearing impairment 74 22 \n", - "HP:0001249 - Intellectual disability 158 23 \n", - "HP:0000729 - Autistic behavior 41 29 \n", - "HP:0010938 - Abnormal external nose morphology 111 11 \n", - "HP:0000343 - Long philtrum 102 26 \n", + " \\\n", + " Percent \n", + "HP:0011446 (Abnormality of higher mental function) 82.61% \n", + "HP:0001249 (Intellectual disability) 71.43% \n", + "HP:0007018 (Attention deficit hyperactivity dis... 81.40% \n", + "HP:0000325 (Triangular face) 71.43% \n", + "HP:0001155 (Abnormality of the hand) 67.11% \n", + "HP:0012758 (Neurodevelopmental delay) 94.51% \n", + "HP:0006482 (Abnormality of dental morphology) 85.52% \n", + "HP:0000365 (Hearing impairment) 80.00% \n", + "HP:0010938 (Abnormal external nose morphology) 89.87% \n", + "HP:0000729 (Autistic behavior) 56.25% \n", + "HP:0000534 (Abnormal eyebrow morphology) 82.35% \n", + "HP:0000343 (Long philtrum) 78.57% \n", + "HP:0004322 (Short stature) 58.46% \n", + "HP:0000356 (Abnormality of the outer ear) 78.72% \n", "\n", - " pval adjusted pval \n", - "HP:0000325 - Triangular face 0.00961 0.134544 \n", - "HP:0001155 - Abnormality of the hand 0.050844 0.355911 \n", - "HP:0000356 - Abnormality of the outer ear 0.163971 0.693027 \n", - "HP:0007018 - Attention deficit hyperactivity di... 0.198008 0.693027 \n", - "HP:0011446 - Abnormality of higher mental function 0.314422 0.880382 \n", - "HP:0012758 - Neurodevelopmental delay 0.410544 0.917446 \n", - "HP:0004322 - Short stature 0.466921 0.917446 \n", - "HP:0006482 - Abnormality of dental morphology 0.524255 0.917446 \n", - "HP:0000534 - Abnormal eyebrow morphology 0.595737 0.926702 \n", - "HP:0000365 - Hearing impairment 0.794112 0.947301 \n", - "HP:0001249 - Intellectual disability 0.795546 0.947301 \n", - "HP:0000729 - Autistic behavior 0.811972 0.947301 \n", - "HP:0010938 - Abnormal external nose morphology 1.0 1.0 \n", - "HP:0000343 - Long philtrum 1.0 1.0 " + " Without frameshift_variant \\\n", + " Count \n", + "HP:0011446 (Abnormality of higher mental function) 106 \n", + "HP:0001249 (Intellectual disability) 94 \n", + "HP:0007018 (Attention deficit hyperactivity dis... 26 \n", + "HP:0000325 (Triangular face) 38 \n", + "HP:0001155 (Abnormality of the hand) 89 \n", + "HP:0012758 (Neurodevelopmental delay) 90 \n", + "HP:0006482 (Abnormality of dental morphology) 100 \n", + "HP:0000365 (Hearing impairment) 45 \n", + "HP:0010938 (Abnormal external nose morphology) 63 \n", + "HP:0000729 (Autistic behavior) 29 \n", + "HP:0000534 (Abnormal eyebrow morphology) 56 \n", + "HP:0000343 (Long philtrum) 55 \n", + "HP:0004322 (Short stature) 74 \n", + "HP:0000356 (Abnormality of the outer ear) 40 \n", + "\n", + " \n", + " Percent p-value \n", + "HP:0011446 (Abnormality of higher mental function) 94.64% 0.003347 \n", + "HP:0001249 (Intellectual disability) 86.24% 0.005575 \n", + "HP:0007018 (Attention deficit hyperactivity dis... 66.67% 0.139030 \n", + "HP:0000325 (Triangular face) 58.46% 0.141518 \n", + "HP:0001155 (Abnormality of the hand) 72.36% 0.358360 \n", + "HP:0012758 (Neurodevelopmental delay) 96.77% 0.494487 \n", + "HP:0006482 (Abnormality of dental morphology) 81.97% 0.504534 \n", + "HP:0000365 (Hearing impairment) 76.27% 0.666875 \n", + "HP:0010938 (Abnormal external nose morphology) 92.65% 0.772039 \n", + "HP:0000729 (Autistic behavior) 60.42% 0.836156 \n", + "HP:0000534 (Abnormal eyebrow morphology) 80.00% 0.836437 \n", + "HP:0000343 (Long philtrum) 80.88% 0.840197 \n", + "HP:0004322 (Short stature) 57.36% 0.900140 \n", + "HP:0000356 (Abnormality of the outer ear) 80.00% 1.000000 " ] }, - "execution_count": 5, + "execution_count": 19, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "allKBGPatients.run_stats(is_var_type, is_not_var_type, 'copy_number_change', 'copy_number_change', \n", - " remove_not_measured=True)" + "analysis.compare_by_variant_type(VariantEffect.FRAMESHIFT_VARIANT)" ] }, { "cell_type": "code", - "execution_count": 6, - "id": "3050af34", + "execution_count": 20, + "id": "1c2c01fd", "metadata": {}, "outputs": [ { @@ -754,217 +1837,227 @@ " vertical-align: top;\n", " }\n", "\n", - " .dataframe thead th {\n", - " text-align: right;\n", + " .dataframe thead tr th {\n", + " text-align: left;\n", " }\n", "\n", "\n", " \n", - " \n", + " \n", + " \n", + " \n", + " \n", " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", " \n", - " \n", - " \n", " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", + " \n", + " \n", + " \n", + " \n", + " \n", + " \n", " \n", + " \n", + " \n", " \n", - " \n", - " \n", - " \n", - " \n", - 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With 16_89284635_TGTTT/-Without 16_89284635_TGTTT/-1 w/ hpo1 w/o hpo2 w/ hpo2 w/o hpopvaladjusted pval
HP:0011446 - Abnormality of higher mental function198159190.012640.176957CountPercentCountPercentp-value
HP:0010938 - Abnormal external nose morphology1339880.1578880.733814HP:0001249 (Intellectual disability)1557.69%17980.27%0.012939
HP:0001249 - Intellectual disability154143HP:0011446 (Abnormality of higher mental function)190.2714330.73381473.08%20189.73%0.022575
HP:0000534 - Abnormal eyebrow morphology10494190.2809360.733814HP:0010938 (Abnormal external nose morphology)1381.25%12192.37%0.153085
HP:0007018 - Attention deficit hyperactivity disorderHP:0007018 (Attention deficit hyperactivity disorder)7044150.3364150.733814100.00%5472.00%0.182109
HP:0000729 - Autistic behavior3438250.4375120.733814HP:0000534 (Abnormal eyebrow morphology)1071.43%11682.27%0.299278
HP:0012758 - Neurodevelopmental delay14111840.4451110.733814HP:0001155 (Abnormality of the hand)2177.78%16868.57%0.384609
HP:0001155 - Abnormality of the hand226133540.5025060.733814HP:0000729 (Autistic behavior)342.86%5359.55%0.445576
HP:0000343 - Long philtrum11491220.5042410.733814HP:0000365 (Hearing impairment)770.00%9078.95%0.452661
HP:0004322 - Short statureHP:0012758 (Neurodevelopmental delay)1412101650.5241530.73381493.33%16295.86%0.500526
HP:0000356 - Abnormality of the outer ear6252100.6178010.786293HP:0000343 (Long philtrum)1173.33%11080.29%0.508920
HP:0000365 - Hearing impairment7367190.6913530.806579HP:0000356 (Abnormality of the outer ear)675.00%7179.78%0.667201
HP:0006482 - Abnormality of dental morphology234159281.01.0HP:0004322 (Short stature)1453.85%13658.37%0.679803
HP:0000325 - Triangular faceHP:0000325 (Triangular face)6262251.01.075.00%7764.17%0.711830
HP:0006482 (Abnormality of dental morphology)2284.62%20283.82%1.000000
\n", "" ], "text/plain": [ - " 1 w/ hpo 1 w/o hpo \\\n", - "HP:0011446 - Abnormality of higher mental function 19 8 \n", - "HP:0010938 - Abnormal external nose morphology 13 3 \n", - "HP:0001249 - Intellectual disability 15 4 \n", - "HP:0000534 - Abnormal eyebrow morphology 10 4 \n", - "HP:0007018 - Attention deficit hyperactivity di... 7 0 \n", - "HP:0000729 - Autistic behavior 3 4 \n", - "HP:0012758 - Neurodevelopmental delay 14 1 \n", - "HP:0001155 - Abnormality of the hand 22 6 \n", - "HP:0000343 - Long philtrum 11 4 \n", - "HP:0004322 - Short stature 14 12 \n", - "HP:0000356 - Abnormality of the outer ear 6 2 \n", - "HP:0000365 - Hearing impairment 7 3 \n", - "HP:0006482 - Abnormality of dental morphology 23 4 \n", - "HP:0000325 - Triangular face 6 2 \n", + " With 16_89284635_TGTTT/- \\\n", + " Count \n", + "HP:0001249 (Intellectual disability) 15 \n", + "HP:0011446 (Abnormality of higher mental function) 19 \n", + "HP:0010938 (Abnormal external nose morphology) 13 \n", + "HP:0007018 (Attention deficit hyperactivity dis... 7 \n", + "HP:0000534 (Abnormal eyebrow morphology) 10 \n", + "HP:0001155 (Abnormality of the hand) 21 \n", + "HP:0000729 (Autistic behavior) 3 \n", + "HP:0000365 (Hearing impairment) 7 \n", + "HP:0012758 (Neurodevelopmental delay) 14 \n", + "HP:0000343 (Long philtrum) 11 \n", + "HP:0000356 (Abnormality of the outer ear) 6 \n", + "HP:0004322 (Short stature) 14 \n", + "HP:0000325 (Triangular face) 6 \n", + "HP:0006482 (Abnormality of dental morphology) 22 \n", + "\n", + " \\\n", + " Percent \n", + "HP:0001249 (Intellectual disability) 57.69% \n", + "HP:0011446 (Abnormality of higher mental function) 73.08% \n", + "HP:0010938 (Abnormal external nose morphology) 81.25% \n", + "HP:0007018 (Attention deficit hyperactivity dis... 100.00% \n", + "HP:0000534 (Abnormal eyebrow morphology) 71.43% \n", + "HP:0001155 (Abnormality of the hand) 77.78% \n", + "HP:0000729 (Autistic behavior) 42.86% \n", + "HP:0000365 (Hearing impairment) 70.00% \n", + "HP:0012758 (Neurodevelopmental delay) 93.33% \n", + "HP:0000343 (Long philtrum) 73.33% \n", + "HP:0000356 (Abnormality of the outer ear) 75.00% \n", + "HP:0004322 (Short stature) 53.85% \n", + "HP:0000325 (Triangular face) 75.00% \n", + "HP:0006482 (Abnormality of dental morphology) 84.62% \n", "\n", - " 2 w/ hpo 2 w/o hpo \\\n", - "HP:0011446 - Abnormality of higher mental function 159 19 \n", - "HP:0010938 - Abnormal external nose morphology 98 8 \n", - "HP:0001249 - Intellectual disability 143 19 \n", - "HP:0000534 - Abnormal eyebrow morphology 94 19 \n", - "HP:0007018 - Attention deficit hyperactivity di... 44 15 \n", - "HP:0000729 - Autistic behavior 38 25 \n", - "HP:0012758 - Neurodevelopmental delay 118 4 \n", - "HP:0001155 - Abnormality of the hand 133 54 \n", - "HP:0000343 - Long philtrum 91 22 \n", - "HP:0004322 - Short stature 101 65 \n", - "HP:0000356 - Abnormality of the outer ear 52 10 \n", - "HP:0000365 - Hearing impairment 67 19 \n", - "HP:0006482 - Abnormality of dental morphology 159 28 \n", - "HP:0000325 - Triangular face 62 25 \n", + " Without 16_89284635_TGTTT/- \\\n", + " Count \n", + "HP:0001249 (Intellectual disability) 179 \n", + "HP:0011446 (Abnormality of higher mental function) 201 \n", + "HP:0010938 (Abnormal external nose morphology) 121 \n", + "HP:0007018 (Attention deficit hyperactivity dis... 54 \n", + "HP:0000534 (Abnormal eyebrow morphology) 116 \n", + "HP:0001155 (Abnormality of the hand) 168 \n", + "HP:0000729 (Autistic behavior) 53 \n", + "HP:0000365 (Hearing impairment) 90 \n", + "HP:0012758 (Neurodevelopmental delay) 162 \n", + "HP:0000343 (Long philtrum) 110 \n", + "HP:0000356 (Abnormality of the outer ear) 71 \n", + "HP:0004322 (Short stature) 136 \n", + "HP:0000325 (Triangular face) 77 \n", + "HP:0006482 (Abnormality of dental morphology) 202 \n", "\n", - " pval adjusted pval \n", - "HP:0011446 - Abnormality of higher mental function 0.01264 0.176957 \n", - "HP:0010938 - Abnormal external nose morphology 0.157888 0.733814 \n", - "HP:0001249 - Intellectual disability 0.271433 0.733814 \n", - "HP:0000534 - Abnormal eyebrow morphology 0.280936 0.733814 \n", - "HP:0007018 - Attention deficit hyperactivity di... 0.336415 0.733814 \n", - "HP:0000729 - Autistic behavior 0.437512 0.733814 \n", - "HP:0012758 - Neurodevelopmental delay 0.445111 0.733814 \n", - "HP:0001155 - Abnormality of the hand 0.502506 0.733814 \n", - "HP:0000343 - Long philtrum 0.504241 0.733814 \n", - "HP:0004322 - Short stature 0.524153 0.733814 \n", - "HP:0000356 - Abnormality of the outer ear 0.617801 0.786293 \n", - "HP:0000365 - Hearing impairment 0.691353 0.806579 \n", - "HP:0006482 - Abnormality of dental morphology 1.0 1.0 \n", - "HP:0000325 - Triangular face 1.0 1.0 " + " \n", + " Percent p-value \n", + "HP:0001249 (Intellectual disability) 80.27% 0.012939 \n", + "HP:0011446 (Abnormality of higher mental function) 89.73% 0.022575 \n", + "HP:0010938 (Abnormal external nose morphology) 92.37% 0.153085 \n", + "HP:0007018 (Attention deficit hyperactivity dis... 72.00% 0.182109 \n", + "HP:0000534 (Abnormal eyebrow morphology) 82.27% 0.299278 \n", + "HP:0001155 (Abnormality of the hand) 68.57% 0.384609 \n", + "HP:0000729 (Autistic behavior) 59.55% 0.445576 \n", + "HP:0000365 (Hearing impairment) 78.95% 0.452661 \n", + "HP:0012758 (Neurodevelopmental delay) 95.86% 0.500526 \n", + "HP:0000343 (Long philtrum) 80.29% 0.508920 \n", + "HP:0000356 (Abnormality of the outer ear) 79.78% 0.667201 \n", + "HP:0004322 (Short stature) 58.37% 0.679803 \n", + "HP:0000325 (Triangular face) 64.17% 0.711830 \n", + "HP:0006482 (Abnormality of dental morphology) 83.82% 1.000000 " ] }, - "execution_count": 6, + "execution_count": 20, "metadata": {}, "output_type": "execute_result" } ], "source": [ - "allKBGPatients.run_stats(is_var_match, is_not_var_match, 'chr16:g.89284641_89284645del', 'chr16:g.89284641_89284645del', \n", - " remove_not_measured=True, include_structural_vars=False)" + "analysis.compare_by_variant('16_89284635_TGTTT/-')" ] }, { "cell_type": "code", - "execution_count": 7, - "id": "46b68d0f", + "execution_count": 21, + "id": "f306c5ef", "metadata": {}, "outputs": [ { @@ -980,298 +2073,195 @@ " vertical-align: top;\n", " }\n", "\n", - " .dataframe thead th {\n", - " text-align: right;\n", + " .dataframe thead tr th {\n", + " text-align: left;\n", " }\n", "\n", "\n", " \n", - " \n", + " \n", + " \n", + " \n", + " \n", + " \n", + " \n", + " \n", " \n", - " \n", - " \n", - " \n", - " \n", - " \n", - " \n", + " \n", + " \n", + " \n", + " \n", + " \n", " \n", " \n", " \n", " \n", - " \n", + " \n", " \n", - " \n", + " \n", " \n", - " \n", + " \n", " \n", - " \n", " \n", " \n", - 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Inside Exon 9Outside Exon 9
1 w/ hpo1 w/o hpo2 w/ hpo2 w/o hpopvaladjusted pvalCountPercentCountPercentp-value
HP:0004322 - Short statureHP:0004322 (Short stature)1076362.94%81436.36%0.0210110.294157
HP:0011446 - Abnormality of higher mental functionHP:0011446 (Abnormality of higher mental function)1552785.64%2300.0493160.3267100.00%0.050196
HP:0001155 - Abnormality of the hand13658HP:0001155 (Abnormality of the hand)13569.95%1920.0700070.326790.48%0.070128
HP:0007018 - Attention deficit hyperactivity disorderHP:0001249 (Intellectual disability)13775.27%2191.30%0.113838
HP:0007018 (Attention deficit hyperactivity disorder)431081.13%8561.54%0.1516090.530632
HP:0000365 - Hearing impairmentHP:0000365 (Hearing impairment)651878.31%940.486691.069.23%0.486690
HP:0000534 - Abnormal eyebrow morphologyHP:0000534 (Abnormal eyebrow morphology)942082.46%10376.92%0.7033221.0
HP:0001249 - Intellectual disability137212120.7430491.0
HP:0000729 - Autistic behaviorHP:0000729 (Autistic behavior)332556.90%8466.67%0.7490491.0
HP:0006482 - Abnormality of dental morphology161292131.01.0HP:0000343 (Long philtrum)9279.31%1083.33%1.000000
HP:0000325 - Triangular faceHP:0000325 (Triangular face)572371.25%1141.01.073.33%1.000000
HP:0010938 - Abnormal external nose morphology98101311.01.0
HP:0000343 - Long philtrum92241021.01.0
HP:0012758 - Neurodevelopmental delayHP:0012758 (Neurodevelopmental delay)120596.00%1201.01.0100.00%1.000000
HP:0000356 - Abnormality of the outer earHP:0010938 (Abnormal external nose morphology)9890.74%1392.86%1.000000
HP:0000356 (Abnormality of the outer ear)491181.67%911.01.090.00%1.000000
HP:0006482 (Abnormality of dental morphology)16084.66%2187.50%1.000000
\n", "" ], "text/plain": [ - " 1 w/ hpo 1 w/o hpo \\\n", - "HP:0004322 - Short stature 107 63 \n", - "HP:0011446 - Abnormality of higher mental function 155 27 \n", - "HP:0001155 - Abnormality of the hand 136 58 \n", - "HP:0007018 - Attention deficit hyperactivity di... 43 10 \n", - "HP:0000365 - Hearing impairment 65 18 \n", - "HP:0000534 - Abnormal eyebrow morphology 94 20 \n", - "HP:0001249 - Intellectual disability 137 21 \n", - "HP:0000729 - Autistic behavior 33 25 \n", - "HP:0006482 - Abnormality of dental morphology 161 29 \n", - "HP:0000325 - Triangular face 57 23 \n", - "HP:0010938 - Abnormal external nose morphology 98 10 \n", - "HP:0000343 - Long philtrum 92 24 \n", - "HP:0012758 - Neurodevelopmental delay 120 5 \n", - "HP:0000356 - Abnormality of the outer ear 49 11 \n", + " Inside Exon 9 \\\n", + " Count Percent \n", + "HP:0004322 (Short stature) 107 62.94% \n", + "HP:0011446 (Abnormality of higher mental function) 155 85.64% \n", + "HP:0001155 (Abnormality of the hand) 135 69.95% \n", + "HP:0001249 (Intellectual disability) 137 75.27% \n", + "HP:0007018 (Attention deficit hyperactivity dis... 43 81.13% \n", + "HP:0000365 (Hearing impairment) 65 78.31% \n", + "HP:0000534 (Abnormal eyebrow morphology) 94 82.46% \n", + "HP:0000729 (Autistic behavior) 33 56.90% \n", + "HP:0000343 (Long philtrum) 92 79.31% \n", + "HP:0000325 (Triangular face) 57 71.25% \n", + "HP:0012758 (Neurodevelopmental delay) 120 96.00% \n", + "HP:0010938 (Abnormal external nose morphology) 98 90.74% \n", + "HP:0000356 (Abnormality of the outer ear) 49 81.67% \n", + "HP:0006482 (Abnormality of dental morphology) 160 84.66% \n", "\n", - " 2 w/ hpo 2 w/o hpo \\\n", - "HP:0004322 - Short stature 8 14 \n", - "HP:0011446 - Abnormality of higher mental function 23 0 \n", - "HP:0001155 - Abnormality of the hand 19 2 \n", - "HP:0007018 - Attention deficit hyperactivity di... 8 5 \n", - "HP:0000365 - Hearing impairment 9 4 \n", - "HP:0000534 - Abnormal eyebrow morphology 10 3 \n", - "HP:0001249 - Intellectual disability 21 2 \n", - "HP:0000729 - Autistic behavior 8 4 \n", - "HP:0006482 - Abnormality of dental morphology 21 3 \n", - "HP:0000325 - Triangular face 11 4 \n", - "HP:0010938 - Abnormal external nose morphology 13 1 \n", - "HP:0000343 - Long philtrum 10 2 \n", - "HP:0012758 - Neurodevelopmental delay 12 0 \n", - "HP:0000356 - Abnormality of the outer ear 9 1 \n", + " Outside Exon 9 \\\n", + " Count Percent \n", + "HP:0004322 (Short stature) 8 36.36% \n", + "HP:0011446 (Abnormality of higher mental function) 23 100.00% \n", + "HP:0001155 (Abnormality of the hand) 19 90.48% \n", + "HP:0001249 (Intellectual disability) 21 91.30% \n", + "HP:0007018 (Attention deficit hyperactivity dis... 8 61.54% \n", + "HP:0000365 (Hearing impairment) 9 69.23% \n", + "HP:0000534 (Abnormal eyebrow morphology) 10 76.92% \n", + "HP:0000729 (Autistic behavior) 8 66.67% \n", + "HP:0000343 (Long philtrum) 10 83.33% \n", + "HP:0000325 (Triangular face) 11 73.33% \n", + "HP:0012758 (Neurodevelopmental delay) 12 100.00% \n", + "HP:0010938 (Abnormal external nose morphology) 13 92.86% \n", + "HP:0000356 (Abnormality of the outer ear) 9 90.00% \n", + "HP:0006482 (Abnormality of dental morphology) 21 87.50% \n", "\n", - " pval adjusted pval \n", - "HP:0004322 - Short stature 0.021011 0.294157 \n", - "HP:0011446 - Abnormality of higher mental function 0.049316 0.3267 \n", - "HP:0001155 - Abnormality of the hand 0.070007 0.3267 \n", - "HP:0007018 - Attention deficit hyperactivity di... 0.151609 0.530632 \n", - "HP:0000365 - Hearing impairment 0.48669 1.0 \n", - "HP:0000534 - Abnormal eyebrow morphology 0.703322 1.0 \n", - "HP:0001249 - Intellectual disability 0.743049 1.0 \n", - "HP:0000729 - Autistic behavior 0.749049 1.0 \n", - "HP:0006482 - Abnormality of dental morphology 1.0 1.0 \n", - "HP:0000325 - Triangular face 1.0 1.0 \n", - "HP:0010938 - Abnormal external nose morphology 1.0 1.0 \n", - "HP:0000343 - Long philtrum 1.0 1.0 \n", - "HP:0012758 - Neurodevelopmental delay 1.0 1.0 \n", - "HP:0000356 - Abnormality of the outer ear 1.0 1.0 " - ] - }, - "execution_count": 7, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "allKBGPatients.run_stats(in_exon, not_in_exon, 9, 9, remove_not_measured=True, include_structural_vars=False)" - ] - }, - { - "cell_type": "code", - "execution_count": 11, - "id": "db24ede8", - "metadata": {}, - "outputs": [], - "source": [ - "patTest = allKBGPatients.all_variants_d.popitem()" - ] - }, - { - "cell_type": "code", - "execution_count": 12, - "id": "6c0e22d5", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "('chr16:g.89279573_89279580del',\n", - " )" - ] - }, - "execution_count": 12, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "patTest" - ] - }, - { - "cell_type": "code", - "execution_count": 14, - "id": "d8a808b5", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "ga4gh.vrsatile.v1.vrsatile_pb2.VariationDescriptor" - ] - }, - "execution_count": 14, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "patTest[1]._varInterp.allelic_state" - ] - }, - { - "cell_type": "code", - "execution_count": 16, - "id": "b2f2afce", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "('16q24.2-q24.3 (87306529_89269020)x1',\n", - " )" - ] - }, - "execution_count": 16, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "testPat = allKBGPatients.all_variants_d.popitem()\n", - "testPat" - ] - }, - { - "cell_type": "code", - "execution_count": 21, - "id": "fbb270e9", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "True" + " \n", + " p-value \n", + "HP:0004322 (Short stature) 0.021011 \n", + "HP:0011446 (Abnormality of higher mental function) 0.050196 \n", + "HP:0001155 (Abnormality of the hand) 0.070128 \n", + "HP:0001249 (Intellectual disability) 0.113838 \n", + "HP:0007018 (Attention deficit hyperactivity dis... 0.151609 \n", + "HP:0000365 (Hearing impairment) 0.486690 \n", + "HP:0000534 (Abnormal eyebrow morphology) 0.703322 \n", + "HP:0000729 (Autistic behavior) 0.749049 \n", + "HP:0000343 (Long philtrum) 1.000000 \n", + "HP:0000325 (Triangular face) 1.000000 \n", + "HP:0012758 (Neurodevelopmental delay) 1.000000 \n", + "HP:0010938 (Abnormal external nose morphology) 1.000000 \n", + "HP:0000356 (Abnormality of the outer ear) 1.000000 \n", + "HP:0006482 (Abnormality of dental morphology) 1.000000 " ] }, "execution_count": 21, @@ -1280,54 +2270,229 @@ } ], "source": [ - "len(testPat[1]._varInterp.vcf_record.alt) == 0" + "analysis2 = CohortAnalysis(patientCohort, 'NM_013275.6', hpo, include_unmeasured=False, include_large_SV=False)\n", + "\n", + "analysis2.compare_by_exon(9)" ] }, { "cell_type": "code", - "execution_count": 27, - "id": "d2bf2e68", + "execution_count": 22, + "id": "f6861157", "metadata": {}, "outputs": [], "source": [ - "chrom = re.findall(r'NC_0000(\\d{2}).\\d\\d', testPat[1]._varInterp.variation.copy_number.allele.sequence_location.sequence_id)[0]\n" - ] - }, - { - "cell_type": "code", - "execution_count": 29, - "id": "181ca19a", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "1\n" - ] - } - ], - "source": [ - "chrom = '01'\n", - "if chrom.startswith('0'):\n", - " chrom = str(int(chrom))\n", - "print(chrom)" + "from genophenocorr.model import FeatureType" ] }, { "cell_type": "code", "execution_count": 23, - "id": "e2fd0234", + "id": "d3c6fd9d", "metadata": {}, "outputs": [ { "data": { + "text/html": [ + "
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Inside REGIONOutside REGION
CountPercentCountPercentp-value
HP:0000325 (Triangular face)5471.05%2955.77%0.091036
HP:0000365 (Hearing impairment)5775.00%4083.33%0.372195
HP:0000356 (Abnormality of the outer ear)4882.76%2974.36%0.443133
HP:0001249 (Intellectual disability)12276.73%7280.00%0.634238
HP:0000534 (Abnormal eyebrow morphology)7979.80%4783.93%0.668860
HP:0000343 (Long philtrum)7980.61%4277.78%0.679394
HP:0012758 (Neurodevelopmental delay)10896.43%6894.44%0.713501
HP:0001155 (Abnormality of the hand)11870.24%7168.27%0.786803
HP:0000729 (Autistic behavior)3356.90%2360.53%0.833053
HP:0011446 (Abnormality of higher mental function)13988.54%8187.10%0.840768
HP:0004322 (Short stature)9358.49%5757.00%0.897211
HP:0007018 (Attention deficit hyperactivity disorder)4275.00%1973.08%1.000000
HP:0010938 (Abnormal external nose morphology)8790.62%4792.16%1.000000
HP:0006482 (Abnormality of dental morphology)13883.64%8684.31%1.000000
\n", + "
" + ], "text/plain": [ - "[syntax: \"hgvs.c\"\n", - "value: \"NM_013275.6:c.6968_6975del\"\n", - ", syntax: \"hgvs.g\"\n", - "value: \"NC_000016.10:g.89279573_89279580del\"\n", - "]" + " Inside REGION \\\n", + " Count Percent \n", + "HP:0000325 (Triangular face) 54 71.05% \n", + "HP:0000365 (Hearing impairment) 57 75.00% \n", + "HP:0000356 (Abnormality of the outer ear) 48 82.76% \n", + "HP:0001249 (Intellectual disability) 122 76.73% \n", + "HP:0000534 (Abnormal eyebrow morphology) 79 79.80% \n", + "HP:0000343 (Long philtrum) 79 80.61% \n", + "HP:0012758 (Neurodevelopmental delay) 108 96.43% \n", + "HP:0001155 (Abnormality of the hand) 118 70.24% \n", + "HP:0000729 (Autistic behavior) 33 56.90% \n", + "HP:0011446 (Abnormality of higher mental function) 139 88.54% \n", + "HP:0004322 (Short stature) 93 58.49% \n", + "HP:0007018 (Attention deficit hyperactivity dis... 42 75.00% \n", + "HP:0010938 (Abnormal external nose morphology) 87 90.62% \n", + "HP:0006482 (Abnormality of dental morphology) 138 83.64% \n", + "\n", + " Outside REGION \\\n", + " Count Percent \n", + "HP:0000325 (Triangular face) 29 55.77% \n", + "HP:0000365 (Hearing impairment) 40 83.33% \n", + "HP:0000356 (Abnormality of the outer ear) 29 74.36% \n", + "HP:0001249 (Intellectual disability) 72 80.00% \n", + "HP:0000534 (Abnormal eyebrow morphology) 47 83.93% \n", + "HP:0000343 (Long philtrum) 42 77.78% \n", + "HP:0012758 (Neurodevelopmental delay) 68 94.44% \n", + "HP:0001155 (Abnormality of the hand) 71 68.27% \n", + "HP:0000729 (Autistic behavior) 23 60.53% \n", + "HP:0011446 (Abnormality of higher mental function) 81 87.10% \n", + "HP:0004322 (Short stature) 57 57.00% \n", + "HP:0007018 (Attention deficit hyperactivity dis... 19 73.08% \n", + "HP:0010938 (Abnormal external nose morphology) 47 92.16% \n", + "HP:0006482 (Abnormality of dental morphology) 86 84.31% \n", + "\n", + " \n", + " p-value \n", + "HP:0000325 (Triangular face) 0.091036 \n", + "HP:0000365 (Hearing impairment) 0.372195 \n", + "HP:0000356 (Abnormality of the outer ear) 0.443133 \n", + "HP:0001249 (Intellectual disability) 0.634238 \n", + "HP:0000534 (Abnormal eyebrow morphology) 0.668860 \n", + "HP:0000343 (Long philtrum) 0.679394 \n", + "HP:0012758 (Neurodevelopmental delay) 0.713501 \n", + "HP:0001155 (Abnormality of the hand) 0.786803 \n", + "HP:0000729 (Autistic behavior) 0.833053 \n", + "HP:0011446 (Abnormality of higher mental function) 0.840768 \n", + "HP:0004322 (Short stature) 0.897211 \n", + "HP:0007018 (Attention deficit hyperactivity dis... 1.000000 \n", + "HP:0010938 (Abnormal external nose morphology) 1.000000 \n", + "HP:0006482 (Abnormality of dental morphology) 1.000000 " ] }, "execution_count": 23, @@ -1336,138 +2501,16 @@ } ], "source": [ - "patTest[1]._varInterp." - ] - }, - { - "cell_type": "code", - "execution_count": 32, - "id": "f4466a10", - "metadata": {}, - "outputs": [], - "source": [ - "lift = LiftOver('hg19', 'hg38')" - ] - }, - { - "cell_type": "code", - "execution_count": 33, - "id": "b029b5ab", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "[('chr16', 89213445, '+', 7470613414)]" - ] - }, - "execution_count": 33, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "lift.convert_coordinate(chromosome='chr16', position=89279853)" + "analysis.compare_by_protein_feature_type(FeatureType.REGION)" ] }, { "cell_type": "code", "execution_count": null, - "id": "a48d2e10", - "metadata": {}, - "outputs": [], - "source": [] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "1dd02d17", + "id": "a97a6a09", "metadata": {}, "outputs": [], "source": [] - }, - { - "cell_type": "code", - "execution_count": 1, - "id": "bb7097f2", - "metadata": {}, - "outputs": [], - "source": [ - "import ensembl_rest" - ] - }, - { - "cell_type": "code", - "execution_count": 2, - "id": "2d100ff0", - "metadata": {}, - "outputs": [], - "source": [ - "import requests" - ] - }, - { - "cell_type": "code", - "execution_count": 3, - "id": "3b1760c2", - "metadata": {}, - "outputs": [], - "source": [ - "json_results = requests.get('https://rest.variantvalidator.org/VariantFormatter/variantformatter/GRCh38/16%3A89279850%3AG%3AGC/all/all/True?content-type=application%2Fjson')\n", - "\n" - ] - }, - { - "cell_type": "code", - "execution_count": 6, - "id": "125a998f", - "metadata": {}, - "outputs": [], - "source": [ - "json = json_results.json()" - ] - }, - { - "cell_type": "code", - "execution_count": 13, - "id": "f818a6ba", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "dict_keys(['16:89279850:G:GC', 'metadata'])\n", - "NC_000016.10:g.89279853dup\n" - ] - } - ], - "source": [ - "print(json.keys())\n", - "key = list(json.keys())[0]\n", - "value = json[key][key]['g_hgvs']\n", - "print(value)" - ] - }, - { - "cell_type": "code", - "execution_count": 1, - "id": "315b8a02", - "metadata": {}, - "outputs": [], - "source": [ - "import phenopackets" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "158afe66", - "metadata": {}, - "outputs": [], - "source": [ - "phenopackets.GenomicInterpretation" - ] } ], "metadata": { diff --git a/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr_UPDATED.ipynb b/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr_UPDATED.ipynb deleted file mode 100644 index 01ae563d..00000000 --- a/notebooks/KBG/KBG_Martinez_PMID_36446582_RunGenoPhenoCorr_UPDATED.ipynb +++ /dev/null @@ -1,7364 +0,0 @@ -{ - "cells": [ - { - "cell_type": "markdown", - "id": "9443554a", - "metadata": {}, - "source": [ - "

KBG Syndrome

\n", - "

Data from Martinez-Cayuelas E, et al. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients. J Med Genet. 2022 Nov 29:jmedgenet-2022-108632. PMID: 36446582..

" - ] - }, - { - "cell_type": "code", - "execution_count": 1, - "id": "bede4ebb", - "metadata": {}, - "outputs": [], - "source": [ - "import os\n", - "import hpotk" - ] - }, - { - "cell_type": "code", - "execution_count": 2, - "id": "b1d687b0", - "metadata": {}, - "outputs": [], - "source": [ - "fpath_hpo = 'hpo_data/hp.json'\n", - "cache_dir = 'annotations'\n", - "fpath_phenopackets = 'phenopackets'\n", - "tx_id = 'NM_013275.6'\n", - "protein_id = 'Q15327'\n", - "if not os.path.isdir(cache_dir):\n", - " os.mkdir(cache_dir)" - ] - }, - { - "cell_type": "code", - "execution_count": 3, - "id": "2b17b75f", - "metadata": {}, - "outputs": [], - "source": [ - "from genophenocorr.phenotype import PhenotypeCreator" - ] - }, - { - "cell_type": "code", - "execution_count": 4, - "id": "43fcbd77", - "metadata": {}, - "outputs": [], - "source": [ - "hpo: hpotk.ontology.Ontology = hpotk.ontology.load.obographs.load_ontology(fpath_hpo)\n", - "validators = [\n", - " hpotk.validate.AnnotationPropagationValidator(hpo),\n", - " hpotk.validate.ObsoleteTermIdsValidator(hpo),\n", - " hpotk.validate.PhenotypicAbnormalityValidator(hpo)\n", - "]\n", - "phenotype_creator = PhenotypeCreator(hpo, hpotk.validate.ValidationRunner(validators))" - ] - }, - { - "cell_type": "code", - "execution_count": 5, - "id": "581aeff8", - "metadata": {}, - "outputs": [], - "source": [ - "from genophenocorr.protein import UniprotProteinMetadataService, ProteinAnnotationCache, ProtCachingFunctionalAnnotator\n", - "from genophenocorr.variant import VarCachingFunctionalAnnotator, VariantAnnotationCache, VepFunctionalAnnotator\n", - "from genophenocorr.patient import PhenopacketPatientCreator" - ] - }, - { - "cell_type": "code", - "execution_count": 6, - "id": "cd86c589", - "metadata": {}, - "outputs": [], - "source": [ - "# Protein metadata\n", - "pm = UniprotProteinMetadataService()\n", - "pac = ProteinAnnotationCache(cache_dir)\n", - "pfa = ProtCachingFunctionalAnnotator(pac, pm)\n", - "\n", - "# Functional annotator\n", - "vac = VariantAnnotationCache(cache_dir)\n", - "vep = VepFunctionalAnnotator(pfa)\n", - "vfa = VarCachingFunctionalAnnotator(vac, vep)\n", - "\n", - "\n", - "# Assemble the patient creator\n", - "pc = PhenopacketPatientCreator(phenotype_creator, vfa)" - ] - }, - { - "cell_type": "code", - "execution_count": 8, - "id": "7afd51a2", - "metadata": {}, - "outputs": [], - "source": [ - "from genophenocorr.cohort import load_phenopacket_folder" - ] - }, - { - "cell_type": "code", - "execution_count": 11, - "id": "62ddfcd6", - "metadata": { - "scrolled": true - }, - "outputs": [ - { - "name": "stderr", - "output_type": "stream", - "text": [ - "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P2\n", - "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P12\n", - "Expected at least one HPO term per patient, but received none for patient Reuter2020\n", - "Expected at least one HPO term per patient, but received none for patient Novara, 2017_P10\n", - "Expected at least one variant per patient, but received none for patient Parenti2016_P1\n", - "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P13\n", - "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P8\n", - "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P4\n", - "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P5\n", - "Expected at least one HPO term per patient, but received none for patient KBG31B\n", - "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P9\n", - "Expected at least one HPO term per patient, but received none for patient VanDongen2019_P7\n", - "Expected at least one variant per patient, but received none for patient KBG42\n" - ] - } - ], - "source": [ - "patientCohort = load_phenopacket_folder(fpath_phenopackets, pc)" - ] - }, - { - "cell_type": "code", - "execution_count": 12, - "id": "c39889b9", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "[('HP:0006482', 224),\n", - " ('HP:0011446', 220),\n", - " ('HP:0001249', 194),\n", - " ('HP:0001155', 189),\n", - " ('HP:0012758', 176),\n", - " ('HP:0004322', 150),\n", - " ('HP:0010938', 134),\n", - " ('HP:0000534', 126),\n", - " ('HP:0000343', 121),\n", - " ('HP:0000365', 97),\n", - " ('HP:0000325', 83),\n", - " ('HP:0000356', 77),\n", - " ('HP:0007018', 61),\n", - " ('HP:0000729', 56)]" - ] - }, - "execution_count": 12, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "patientCohort.list_all_phenotypes()" - ] - }, - { - "cell_type": "code", - "execution_count": 13, - "id": "f294ca99", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "[('16_89284634_GTGTTT/G', 34),\n", - " ('16_89284129_CTTTTT/C', 10),\n", - " ('16_89284140_TTTTC/T', 9),\n", - " ('16_89285157_GTTTC/G', 8),\n", - " ('16_89275181_-/G', 5),\n", - " ('16_89279750_-/G', 5),\n", - " ('16_89217282_deletion', 4),\n", - " ('16_89277486_deletion', 4),\n", - " ('16_89182742_deletion', 4),\n", - " ('16_89284363_CTTTG/C', 3),\n", - " ('16_89274958_C/G', 3),\n", - " ('16_88197356_deletion', 3),\n", - " ('16_89284358_GAT/G', 3),\n", - " ('16_89284345_G/A', 3),\n", - " ('16_89284565_G/C', 3),\n", - " ('16_89284524_duplication', 3),\n", - " ('16_89282136_C/T', 3),\n", - " ('16_89282710_T/A', 3),\n", - " ('16_89283314_CCTTT/C', 3),\n", - " ('16_89285224_G/A', 2),\n", - " ('16_89282455_G/A', 2),\n", - " ('16_89206685_deletion', 2),\n", - " ('16_89279326_G/A', 2),\n", - " ('16_89275128_G/A', 2),\n", - " ('16_89283496_CG/C', 2),\n", - " ('16_89262070_deletion', 2),\n", - " ('16_89321706_deletion', 2),\n", - " ('16_89280752_G/T', 2),\n", - " ('16_89282158_-/T', 2),\n", - " ('16_89285153_TTTTG/T', 2),\n", - " ('16_89268636_C/A', 2),\n", - " ('16_89283233_-/T', 2),\n", - " ('16_88788350_deletion', 2),\n", - " ('16_89281054_C/A', 2),\n", - " ('16_89282834_CTGTT/C', 2),\n", - " ('16_89228900_deletion', 2),\n", - " ('16_89280029_-/G', 2),\n", - " ('16_89095277_deletion', 2),\n", - " ('16_89282947_CTTTTT/C', 2),\n", - " ('16_89285171_CTTCT/C', 2),\n", - " ('16_89284209_TTCTC/T', 2),\n", - " ('16_89270870_G/A', 1),\n", - " ('16_89284811_-/A', 1),\n", - " ('16_88197155_deletion', 1),\n", - " ('16_89284030_G/A', 1),\n", - " ('16_89283304_deletion', 1),\n", - " ('16_89279135_G/C', 1),\n", - " ('16_88197485_deletion', 1),\n", - " ('16_89283895_C/A', 1),\n", - " ('16_89363269_deletion', 1),\n", - " ('16_89282324_G/T', 1),\n", - " ('16_89281111_TGAAGA/T', 1),\n", - " ('16_89280457_CGGGCAGAGCGTACG/C', 1),\n", - " ('16_89441369_deletion', 1),\n", - " ('16_89056332_deletion', 1),\n", - " ('16_89282166_TTC/T', 1),\n", - " ('16_88743576_deletion', 1),\n", - " ('16_89476288_duplication', 1),\n", - " ('16_89283320_-/T', 1),\n", - " ('16_89279914_C/A', 1),\n", - " ('16_89282635_CCT/C', 1),\n", - " ('16_89269019_deletion', 1),\n", - " ('16_89282255_ATCTT/A', 1),\n", - " ('16_88575401_deletion', 1),\n", - " ('16_89275191_T/G', 1),\n", - " ('16_89279126_G/C', 1),\n", - " ('16_89282044_G/A', 1),\n", - " ('16_89269021_deletion', 1),\n", - " ('16_89283349_T/A', 1),\n", - " ('16_89286099_TG/T', 1),\n", - " ('16_89275127_C/T', 1),\n", - " ('16_89282013_-/G', 1),\n", - " ('16_89282012_CGG/C', 1),\n", - " ('16_87306530_deletion', 1),\n", - " ('16_89283094_G/A', 1),\n", - " ('16_89279776_G/A', 1),\n", - " ('16_89290706_G/A', 1),\n", - " ('16_89280174_GCGTC/G', 1),\n", - " ('16_89284741_G/A', 1),\n", - " ('16_89284169_CT/C', 1),\n", - " ('16_89279119_AGCCCGTGTAGGT/A', 1),\n", - " ('16_89283082_C/A', 1),\n", - " ('16_89280527_-/T', 1),\n", - " ('16_89293294_deletion', 1),\n", - " ('16_89282771_-/T', 1),\n", - " ('16_89280131_GGA/G', 1),\n", - " ('16_87468556_duplication', 1),\n", - " ('16_89283850_G/A', 1),\n", - " ('16_89279859_TC/T', 1),\n", - " ('16_89281302_GGC/G', 1),\n", - " ('16_87766621_deletion', 1),\n", - " ('16_89283791_-/A', 1),\n", - " ('16_88555247_deletion', 1),\n", - " ('16_89283559_deletion', 1),\n", - " ('16_89283523_G/A', 1),\n", - " ('16_89249291_deletion', 1),\n", - " ('16_89490211_deletion', 1),\n", - " ('16_89368851_deletion', 1),\n", - " ('16_86647052_deletion', 1),\n", - " ('16_89281756_C/A', 1),\n", - " ('16_89283232_-/C', 1),\n", - " ('16_89282149_GTT/G', 1),\n", - " ('16_89283158_GTC/G', 1),\n", - " ('16_89281419_G/T', 1),\n", - " ('16_89409760_deletion', 1),\n", - " ('16_89279708_AGTGTTCGGGGCGGGGCC/A', 1),\n", - " ('16_89282947_CTTTT/C', 1),\n", - " ('16_89284696_C/A', 1),\n", - " ('16_89285255_CGA/C', 1),\n", - " ('16_89282611_G/A', 1),\n", - " ('16_89283495_TC/T', 1),\n", - " ('16_89283949_-/A', 1),\n", - " ('16_89281336_CG/C', 1),\n", - " ('16_89279362_G/A', 1),\n", - " ('16_89282770_CTT/C', 1),\n", - " ('16_89285153_-/T', 1),\n", - " ('16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T', 1),\n", - " ('16_89282766_TTC/T', 1),\n", - " ('16_89280355_C/A', 1),\n", - " ('16_89274920_C/G', 1),\n", - " ('16_89282134_T/A', 1),\n", - " ('16_89223569_deletion', 1),\n", - " ('16_89458996_deletion', 1),\n", - " ('16_88599770_deletion', 1),\n", - " ('16_89284756_G/AA', 1),\n", - " ('16_89409044_deletion', 1),\n", - " ('16_89414599_deletion', 1),\n", - " ('16_89284129_CT/C', 1),\n", - " ('16_89286064_G/C', 1),\n", - " ('16_89281396_C/A', 1),\n", - " ('16_89284241_CTTCT/C', 1),\n", - " ('16_87618421_deletion', 1),\n", - " ('16_89282567_GA/G', 1),\n", - " ('16_89279840_AT/A', 1),\n", - " ('16_89280357_AG/A', 1),\n", - " ('16_89280587_CTG/C', 1),\n", - " ('16_89283891_TC/T', 1),\n", - " ('16_89283245_GAA/G', 1),\n", - " ('16_87886395_deletion', 1),\n", - " ('16_89282959_TC/T', 1),\n", - " ('16_89280484_CGGGAG/C', 1),\n", - " ('16_89282654_-/G', 1),\n", - " ('16_89285422_C/A', 1),\n", - " ('16_89283415_GGATT/G', 1),\n", - " ('16_89290674_GATGC/G', 1),\n", - " ('16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T', 1),\n", - " ('16_89281397_G/C', 1),\n", - " ('16_89279186_-/G', 1),\n", - " ('16_89284818_CTTGTCAGTCTCGT/C', 1),\n", - " ('16_89275192_C/G', 1),\n", - " ('16_89283676_C/A', 1),\n", - " ('16_89283332_ATG/A', 1),\n", - " ('16_89290721_C/A', 1),\n", - " ('16_89283388_AT/A', 1),\n", - " ('16_89305204_ACCTGTGTCCGAGTCCTT/A', 1),\n", - " ('16_87150056_deletion', 1),\n", - " ('16_89285369_G/C', 1),\n", - " ('16_89305431_deletion', 1),\n", - " ('16_89171713_deletion', 1),\n", - " ('16_89284601_GG/A', 1),\n", - " ('16_89279070_A/G', 1),\n", - " ('16_89282433_TTC/T', 1),\n", - " ('16_89279542_G/A', 1),\n", - " ('16_89282437_CTT/C', 1),\n", - " ('16_89284236_GA/G', 1),\n", - " ('16_89283362_-/T', 1),\n", - " ('16_89279350_G/A', 1),\n", - " ('16_89283775_GCT/G', 1),\n", - " ('16_89268821_deletion', 1),\n", - " ('16_89279353_G/A', 1),\n", - " ('16_88568593_deletion', 1),\n", - " ('16_89279178_AG/A', 1),\n", - " ('16_89279566_CCTTCGGGG/C', 1),\n", - " ('16_87892207_deletion', 1),\n", - " ('16_87921246_deletion', 1),\n", - " ('16_89282371_G/A', 1),\n", - " ('16_89281268_-/G', 1),\n", - " ('16_89280070_C/A', 1),\n", - " ('16_89284445_TTTCTC/T', 1),\n", - " ('16_89281380_G/A', 1),\n", - " ('16_89275110_G/A', 1),\n", - " ('16_89395176_deletion', 1),\n", - " ('16_89194992_deletion', 1),\n", - " ('16_89481148_deletion', 1),\n", - " ('16_88564200_deletion', 1),\n", - 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" ('16_89274920_C/T', 1),\n", - " ('16_89281983_TC/T', 1),\n", - " ('16_89284147_T/A', 1),\n", - " ('16_89133200_deletion', 1),\n", - " ('16_89284411_GC/G', 1),\n", - " ('16_89190071_deletion', 1),\n", - " ('16_89258980_deletion', 1)]" - ] - }, - "execution_count": 13, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "patientCohort.list_all_variants()" - ] - }, - { - "cell_type": "code", - "execution_count": 14, - "id": "8136e3b2", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "['KBG18',\n", - " 'Ockeloen2015_P1',\n", - " 'KBG55',\n", - " 'Goldenberg2016_P16',\n", - " 'Low, 2016_P5 (6)',\n", - " 'KBG59',\n", - " 'Novara, 2017_P7',\n", - " 'Ockeloen2015_P19',\n", - " 'Low, 2016_34 (32)',\n", - " 'Ockeloen2015_P7',\n", - " 'Sirmaci2011_P4 (previously published Brancati, 2004)',\n", - " 'Scarano, 2013_P8',\n", - " 'KBG38',\n", - " 'Kutkowska-Kazmierczak2021_P10',\n", - " 'KBG64',\n", - " 'Goldenberg2016_P8',\n", - " 'Ockeloen2015_P20',\n", - 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" ProteinMetadata(id=NP_150254.1, label=Large ribosomal subunit protein eL13, features=()),\n", - " ProteinMetadata(id=NP_524576.2, label=Protein BANP, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=BEN, start=226, end=322)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with CUX1 and HDAC1, start=152, end=342)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=168, end=196)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=327, end=364)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=DNA-binding, start=342, end=393)))),\n", - " ProteinMetadata(id=NP_653205.3, label=Zinc finger CCCH domain-containing protein 18, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=222)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=391, end=928)))),\n", - " ProteinMetadata(id=NP_705900.1, label=Copine-7, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=C2 1, start=2, end=133)), SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=C2 2, start=212, end=339)), SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=VWFA, start=382, end=581)))),\n", - " ProteinMetadata(id=NP_722520.2, label=Zinc finger protein ZFPM1, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=93)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=114, end=133)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with TACC3, start=330, end=341)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=384, end=409)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=438, end=460)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=473, end=515)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=605, end=681)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=708, end=810)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with CTBP2, start=794, end=800)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=889, end=971)))),\n", - " ProteinMetadata(id=NP_777577.2, label=Malonate--CoA ligase ACSF3, mitochondrial, features=()),\n", - " ProteinMetadata(id=NP_787127.1, label=Protein CBFA2T3, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=TAFH, start=171, end=266)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Mediates localization to the nucleus, start=1, end=435)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Mediates interaction with PDE7A (in isoform 2), start=1, end=430)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Required for nucleolar targeting (in isoform 1), start=1, end=127)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=1, end=109)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with ZBTB33, start=145, end=242)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with HIF1A, start=176, end=268)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=284, end=342)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Nervy homology region 2 (NHR2); essential for down-regulation of PFKFB3, PFKFB4 and PDK1 expression, start=394, end=412)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=434, end=472)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Nervy homology region 3 (NHR3); essential for down-regulation of PFKFB3, PFKFB4 and PDK1 expression, start=485, end=533)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Mediates interaction with PRKAR2A, start=485, end=506)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=603, end=653)))),\n", - " ProteinMetadata(id=NP_840101.1, label=Zinc finger protein SNAI3, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=SNAG domain, start=1, end=20)),)),\n", - " ProteinMetadata(id=NP_849163.1, label=E3 ubiquitin-protein ligase RNF166, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=UIM, start=221, end=237)),)),\n", - " ProteinMetadata(id=NP_872337.2, label=Zinc finger protein 778, features=(SimpleProteinFeature(type=FeatureType.DOMAIN, info=FeatureInfo(name=KRAB, start=42, end=110)),)),\n", - " ProteinMetadata(id=NP_955399.1, label=Paraplegin, features=(SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=108, end=133)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Interaction with PPIF, start=701, end=795)), SimpleProteinFeature(type=FeatureType.REGION, info=FeatureInfo(name=Disordered, start=751, end=795))))}" - ] - }, - "execution_count": 18, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "patientCohort.all_proteins" - ] - }, - { - "cell_type": "code", - "execution_count": 19, - "id": "970ec9a5", - "metadata": {}, - "outputs": [], - "source": [ - "from genophenocorr.cohort import CohortAnalysis" - ] - }, - { - "cell_type": "code", - "execution_count": 20, - "id": "df922d31", - "metadata": {}, - "outputs": [], - "source": [ - "analysis = CohortAnalysis(patientCohort, 'NM_013275.6', hpo, include_unmeasured=False)" - ] - }, - { - "cell_type": "code", - "execution_count": 21, - "id": "91809a38", - "metadata": {}, - "outputs": [], - "source": [ - "from genophenocorr.constants import VariantEffect" - ] - }, - { - "cell_type": "code", - "execution_count": 22, - "id": "e8651fa1", - "metadata": {}, - "outputs": [ - { - "data": { - "text/plain": [ - "'SO:0001589'" - ] - }, - "execution_count": 22, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "VariantEffect.FRAMESHIFT_VARIANT.value" - ] - }, - { - "cell_type": "code", - "execution_count": 23, - "id": "57dd0e23", - "metadata": { - "scrolled": false - }, - "outputs": [ - { - "data": { - "text/html": [ - "
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With frameshift_variantWithout frameshift_variant
CountPercentCountPercentp-value
HP:0011446 (Abnormality of higher mental function)11482.01%10695.50%0.001371
HP:0001249 (Intellectual disability)10070.92%9487.04%0.003175
HP:0007018 (Attention deficit hyperactivity disorder)3581.40%2666.67%0.139030
HP:0000325 (Triangular face)4571.43%3858.46%0.141518
HP:0006482 (Abnormality of dental morphology)12585.62%9981.82%0.408845
HP:0001155 (Abnormality of the hand)10167.33%8872.13%0.428461
HP:0012758 (Neurodevelopmental delay)8694.51%9096.77%0.494487
HP:0000365 (Hearing impairment)5280.00%4576.27%0.666875
HP:0010938 (Abnormal external nose morphology)7189.87%6392.65%0.772039
HP:0000729 (Autistic behavior)2756.25%2960.42%0.836156
HP:0000534 (Abnormal eyebrow morphology)7082.35%5680.00%0.836437
HP:0000343 (Long philtrum)6678.57%5580.88%0.840197
HP:0004322 (Short stature)7658.46%7457.36%0.900140
HP:0000356 (Abnormality of the outer ear)3778.72%4080.00%1.000000
\n", - "
" - ], - "text/plain": [ - " With frameshift_variant \\\n", - " Count \n", - "HP:0011446 (Abnormality of higher mental function) 114 \n", - "HP:0001249 (Intellectual disability) 100 \n", - "HP:0007018 (Attention deficit hyperactivity dis... 35 \n", - "HP:0000325 (Triangular face) 45 \n", - "HP:0006482 (Abnormality of dental morphology) 125 \n", - "HP:0001155 (Abnormality of the hand) 101 \n", - "HP:0012758 (Neurodevelopmental delay) 86 \n", - "HP:0000365 (Hearing impairment) 52 \n", - "HP:0010938 (Abnormal external nose morphology) 71 \n", - "HP:0000729 (Autistic behavior) 27 \n", - "HP:0000534 (Abnormal eyebrow morphology) 70 \n", - "HP:0000343 (Long philtrum) 66 \n", - "HP:0004322 (Short stature) 76 \n", - "HP:0000356 (Abnormality of the outer ear) 37 \n", - "\n", - " \\\n", - " Percent \n", - "HP:0011446 (Abnormality of higher mental function) 82.01% \n", - "HP:0001249 (Intellectual disability) 70.92% \n", - "HP:0007018 (Attention deficit hyperactivity dis... 81.40% \n", - "HP:0000325 (Triangular face) 71.43% \n", - "HP:0006482 (Abnormality of dental morphology) 85.62% \n", - "HP:0001155 (Abnormality of the hand) 67.33% \n", - "HP:0012758 (Neurodevelopmental delay) 94.51% \n", - "HP:0000365 (Hearing impairment) 80.00% \n", - "HP:0010938 (Abnormal external nose morphology) 89.87% \n", - "HP:0000729 (Autistic behavior) 56.25% \n", - "HP:0000534 (Abnormal eyebrow morphology) 82.35% \n", - "HP:0000343 (Long philtrum) 78.57% \n", - "HP:0004322 (Short stature) 58.46% \n", - "HP:0000356 (Abnormality of the outer ear) 78.72% \n", - "\n", - " Without frameshift_variant \\\n", - " Count \n", - "HP:0011446 (Abnormality of higher mental function) 106 \n", - "HP:0001249 (Intellectual disability) 94 \n", - "HP:0007018 (Attention deficit hyperactivity dis... 26 \n", - "HP:0000325 (Triangular face) 38 \n", - "HP:0006482 (Abnormality of dental morphology) 99 \n", - "HP:0001155 (Abnormality of the hand) 88 \n", - "HP:0012758 (Neurodevelopmental delay) 90 \n", - "HP:0000365 (Hearing impairment) 45 \n", - "HP:0010938 (Abnormal external nose morphology) 63 \n", - "HP:0000729 (Autistic behavior) 29 \n", - "HP:0000534 (Abnormal eyebrow morphology) 56 \n", - "HP:0000343 (Long philtrum) 55 \n", - "HP:0004322 (Short stature) 74 \n", - "HP:0000356 (Abnormality of the outer ear) 40 \n", - "\n", - " \n", - " Percent p-value \n", - "HP:0011446 (Abnormality of higher mental function) 95.50% 0.001371 \n", - "HP:0001249 (Intellectual disability) 87.04% 0.003175 \n", - "HP:0007018 (Attention deficit hyperactivity dis... 66.67% 0.139030 \n", - "HP:0000325 (Triangular face) 58.46% 0.141518 \n", - "HP:0006482 (Abnormality of dental morphology) 81.82% 0.408845 \n", - "HP:0001155 (Abnormality of the hand) 72.13% 0.428461 \n", - "HP:0012758 (Neurodevelopmental delay) 96.77% 0.494487 \n", - "HP:0000365 (Hearing impairment) 76.27% 0.666875 \n", - "HP:0010938 (Abnormal external nose morphology) 92.65% 0.772039 \n", - "HP:0000729 (Autistic behavior) 60.42% 0.836156 \n", - "HP:0000534 (Abnormal eyebrow morphology) 80.00% 0.836437 \n", - "HP:0000343 (Long philtrum) 80.88% 0.840197 \n", - "HP:0004322 (Short stature) 57.36% 0.900140 \n", - "HP:0000356 (Abnormality of the outer ear) 80.00% 1.000000 " - ] - }, - "execution_count": 23, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "analysis.compare_by_variant_type(VariantEffect.FRAMESHIFT_VARIANT)" - ] - }, - { - "cell_type": "code", - "execution_count": 24, - "id": "1c2c01fd", - "metadata": {}, - "outputs": [ - { - "name": "stdout", - "output_type": "stream", - "text": [ - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89281268_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_88564200_deletion == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89281268_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_88564200_deletion == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274920_C/T == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274920_C/T == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89279135_G/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89282771_-/T == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_88564200_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89282352_AGGAAGTCCTTTTC/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282959_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89266046_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89274920_C/T == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89279135_G/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89282771_-/T == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_88564200_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89282352_AGGAAGTCCTTTTC/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282959_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89266046_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89274920_C/T == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89280357_AG/A == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89279135_G/C == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89285422_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89281397_G/C == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88743576_deletion == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_87150056_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89282771_-/T == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89275110_G/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89395176_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89481148_deletion == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_88555247_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89282766_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_89458996_deletion == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89286064_G/C == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89305204_ACCTGTGTCCGAGTCCTT/A == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89171713_deletion == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_87921246_deletion == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_89281756_C/A == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89283342_TTA/T == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284649_-/T == 16_89284634_GTGTTT/G\n", - "16_89266046_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89274920_C/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89133200_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89280357_AG/A == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89279135_G/C == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89285422_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89281397_G/C == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88743576_deletion == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_87150056_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89282771_-/T == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89275110_G/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89395176_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89481148_deletion == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_88555247_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89282766_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_89458996_deletion == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89286064_G/C == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89305204_ACCTGTGTCCGAGTCCTT/A == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89171713_deletion == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_87921246_deletion == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_89281756_C/A == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89283342_TTA/T == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284649_-/T == 16_89284634_GTGTTT/G\n", - "16_89266046_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89274920_C/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89133200_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89280357_AG/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282959_TC/T == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89285422_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89281397_G/C == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_87921246_deletion == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89281268_-/G == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89275110_G/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89481148_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89249291_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89282352_AGGAAGTCCTTTTC/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89286064_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89133200_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89171713_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89395176_deletion == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89284649_-/T == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89266046_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89282766_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89458996_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89280357_AG/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282959_TC/T == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89285422_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89281397_G/C == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89282255_ATCTT/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_87921246_deletion == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89281268_-/G == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89275110_G/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89481148_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89249291_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89282352_AGGAAGTCCTTTTC/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89286064_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89133200_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89171713_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89395176_deletion == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89284649_-/T == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89266046_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89282766_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89458996_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89279135_G/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89305204_ACCTGTGTCCGAGTCCTT/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89281268_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89282771_-/T == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_88564200_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89282352_AGGAAGTCCTTTTC/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89282959_TC/T == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89279135_G/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89305204_ACCTGTGTCCGAGTCCTT/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89281268_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89282771_-/T == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_88564200_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89279708_AGTGTTCGGGGCGGGGCC/A == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89282352_AGGAAGTCCTTTTC/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89282959_TC/T == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89056332_deletion == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89305204_ACCTGTGTCCGAGTCCTT/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89305204_ACCTGTGTCCGAGTCCTT/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89279135_G/C == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89281397_G/C == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89283082_C/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89281756_C/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89284779_G/T == 16_89284634_GTGTTT/G\n", - "16_89281576_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89279135_G/C == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89281397_G/C == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89286099_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89283082_C/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89281756_C/A == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89284779_G/T == 16_89284634_GTGTTT/G\n", - "16_89281576_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89282371_G/A == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89280357_AG/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89285422_C/A == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89281397_G/C == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_88743576_deletion == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89281756_C/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89284649_-/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89282352_AGGAAGTCCTTTTC/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89133200_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_89282959_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_87892207_deletion == 16_89284634_GTGTTT/G\n", - "16_89281268_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89395176_deletion == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_88555247_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89249291_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89283342_TTA/T == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89282766_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89286064_G/C == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89284030_G/A == 16_89284634_GTGTTT/G\n", - "16_89280357_AG/A == 16_89284634_GTGTTT/G\n", - "16_89280587_CTG/C == 16_89284634_GTGTTT/G\n", - "16_89283891_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89285422_C/A == 16_89284634_GTGTTT/G\n", - "16_89283415_GGATT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89281314_TGCGAGTCGGCGCAGTCGAACACGAGGTCC/T == 16_89284634_GTGTTT/G\n", - "16_89281397_G/C == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89363269_deletion == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89280457_CGGGCAGAGCGTACG/C == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89283676_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_88743576_deletion == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89283320_-/T == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89305431_deletion == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89269019_deletion == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89275191_T/G == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89269021_deletion == 16_89284634_GTGTTT/G\n", - "16_89279542_G/A == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89275127_C/T == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89284236_GA/G == 16_89284634_GTGTTT/G\n", - "16_87306530_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88568593_deletion == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284741_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89293294_deletion == 16_89284634_GTGTTT/G\n", - "16_89280070_C/A == 16_89284634_GTGTTT/G\n", - "16_89280131_GGA/G == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89490211_deletion == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89281756_C/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280652_CG/C == 16_89284634_GTGTTT/G\n", - "16_89283232_-/C == 16_89284634_GTGTTT/G\n", - "16_89282149_GTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283158_GTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282336_G/C == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284696_C/A == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89284649_-/T == 16_89284634_GTGTTT/G\n", - "16_89284524_duplication == 16_89284634_GTGTTT/G\n", - "16_89285078_ACTCT/A == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89280583_ATC/A == 16_89284634_GTGTTT/G\n", - "16_89274958_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89283949_-/A == 16_89284634_GTGTTT/G\n", - "16_89283203_C/T == 16_89284634_GTGTTT/G\n", - "16_89281336_CG/C == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89275181_-/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285224_G/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89282134_T/A == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_89282352_AGGAAGTCCTTTTC/A == 16_89284634_GTGTTT/G\n", - "16_89283319_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89284756_G/AA == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89133200_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89284411_GC/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89228900_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282567_GA/G == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_88197485_deletion == 16_89284634_GTGTTT/G\n", - "16_89282959_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89281111_TGAAGA/T == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89283332_ATG/A == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279326_G/A == 16_89284634_GTGTTT/G\n", - "16_89282433_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89282437_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89280174_GCGTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279178_AG/A == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_87892207_deletion == 16_89284634_GTGTTT/G\n", - "16_89281268_-/G == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89395176_deletion == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_89283791_-/A == 16_89284634_GTGTTT/G\n", - "16_88555247_deletion == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89249291_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89283342_TTA/T == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89280830_-/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283080_TTCCTCCTTCTCCTGGAGGCCGTCCG/T == 16_89284634_GTGTTT/G\n", - "16_89282766_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_88599770_deletion == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284358_GAT/G == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89286064_G/C == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_87618421_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89285422_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89305204_ACCTGTGTCCGAGTCCTT/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_87892207_deletion == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_87921246_deletion == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89282771_-/T == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89275110_G/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89395176_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89481148_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_88555247_deletion == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89249291_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89281756_C/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89283342_TTA/T == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89282766_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89133200_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n", - "16_89270870_G/A == 16_89284634_GTGTTT/G\n", - "16_89279840_AT/A == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284811_-/A == 16_89284634_GTGTTT/G\n", - "16_88197155_deletion == 16_89284634_GTGTTT/G\n", - "16_89283304_deletion == 16_89284634_GTGTTT/G\n", - "16_89283245_GAA/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_87886395_deletion == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89280484_CGGGAG/C == 16_89284634_GTGTTT/G\n", - "16_89282654_-/G == 16_89284634_GTGTTT/G\n", - "16_89285422_C/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89290674_GATGC/G == 16_89284634_GTGTTT/G\n", - "16_89283895_C/A == 16_89284634_GTGTTT/G\n", - "16_89279186_-/G == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89284818_CTTGTCAGTCTCGT/C == 16_89284634_GTGTTT/G\n", - "16_89282324_G/T == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89206685_deletion == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89441369_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89282166_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89275192_C/G == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89290721_C/A == 16_89284634_GTGTTT/G\n", - "16_89476288_duplication == 16_89284634_GTGTTT/G\n", - "16_89279914_C/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89283388_AT/A == 16_89284634_GTGTTT/G\n", - "16_89305204_ACCTGTGTCCGAGTCCTT/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89285369_G/C == 16_89284634_GTGTTT/G\n", - "16_89282635_CCT/C == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_88575401_deletion == 16_89284634_GTGTTT/G\n", - "16_89284601_GG/A == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279126_G/C == 16_89284634_GTGTTT/G\n", - "16_89279070_A/G == 16_89284634_GTGTTT/G\n", - "16_89282044_G/A == 16_89284634_GTGTTT/G\n", - "16_89283349_T/A == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_89282013_-/G == 16_89284634_GTGTTT/G\n", - "16_89282012_CGG/C == 16_89284634_GTGTTT/G\n", - "16_89283362_-/T == 16_89284634_GTGTTT/G\n", - "16_89279350_G/A == 16_89284634_GTGTTT/G\n", - "16_89283775_GCT/G == 16_89284634_GTGTTT/G\n", - "16_89268821_deletion == 16_89284634_GTGTTT/G\n", - "16_89283094_G/A == 16_89284634_GTGTTT/G\n", - "16_89279776_G/A == 16_89284634_GTGTTT/G\n", - "16_89279353_G/A == 16_89284634_GTGTTT/G\n", - "16_89290706_G/A == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89279566_CCTTCGGGG/C == 16_89284634_GTGTTT/G\n", - "16_87892207_deletion == 16_89284634_GTGTTT/G\n", - "16_89283496_CG/C == 16_89284634_GTGTTT/G\n", - "16_87921246_deletion == 16_89284634_GTGTTT/G\n", - "16_89262070_deletion == 16_89284634_GTGTTT/G\n", - "16_89279119_AGCCCGTGTAGGT/A == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280527_-/T == 16_89284634_GTGTTT/G\n", - "16_89282771_-/T == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_87468556_duplication == 16_89284634_GTGTTT/G\n", - "16_89275110_G/A == 16_89284634_GTGTTT/G\n", - "16_89275128_G/A == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89283850_G/A == 16_89284634_GTGTTT/G\n", - "16_89395176_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89194992_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284565_G/C == 16_89284634_GTGTTT/G\n", - "16_89279859_TC/T == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89481148_deletion == 16_89284634_GTGTTT/G\n", - "16_89284345_G/A == 16_89284634_GTGTTT/G\n", - "16_87766621_deletion == 16_89284634_GTGTTT/G\n", - "16_88555247_deletion == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89283559_deletion == 16_89284634_GTGTTT/G\n", - "16_89279458_TG/T == 16_89284634_GTGTTT/G\n", - "16_89283523_G/A == 16_89284634_GTGTTT/G\n", - "16_89282151_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89249291_deletion == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89368851_deletion == 16_89284634_GTGTTT/G\n", - "16_86647052_deletion == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89281756_C/A == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89284363_CTTTG/C == 16_89284634_GTGTTT/G\n", - "16_89280029_-/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88697053_deletion == 16_89284634_GTGTTT/G\n", - "16_89279750_-/G == 16_89284634_GTGTTT/G\n", - "16_89280752_G/T == 16_89284634_GTGTTT/G\n", - "16_89281054_C/A == 16_89284634_GTGTTT/G\n", - "16_89283712_ACT/A == 16_89284634_GTGTTT/G\n", - "16_89281419_G/T == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89409760_deletion == 16_89284634_GTGTTT/G\n", - "16_88197356_deletion == 16_89284634_GTGTTT/G\n", - "16_89274954_TCTC/T == 16_89284634_GTGTTT/G\n", - "16_89283342_TTA/T == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89285255_CGA/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282611_G/A == 16_89284634_GTGTTT/G\n", - "16_89285626_GT/G == 16_89284634_GTGTTT/G\n", - "16_89283495_TC/T == 16_89284634_GTGTTT/G\n", - "16_89283314_CCTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89280202_G/A == 16_89284634_GTGTTT/G\n", - "16_89282158_-/T == 16_89284634_GTGTTT/G\n", - "16_89279362_G/A == 16_89284634_GTGTTT/G\n", - "16_89282770_CTT/C == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89285153_-/T == 16_89284634_GTGTTT/G\n", - "16_89284174_CT/C == 16_89284634_GTGTTT/G\n", - "16_89195407_duplication == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89285153_TTTTG/T == 16_89284634_GTGTTT/G\n", - "16_89279851_-/C == 16_89284634_GTGTTT/G\n", - "16_89095277_deletion == 16_89284634_GTGTTT/G\n", - "16_89282766_TTC/T == 16_89284634_GTGTTT/G\n", - "16_89269900_deletion == 16_89284634_GTGTTT/G\n", - "16_89280355_C/A == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89286065_-/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89282710_T/A == 16_89284634_GTGTTT/G\n", - "16_87464659_deletion == 16_89284634_GTGTTT/G\n", - "16_89285085_G/C == 16_89284634_GTGTTT/G\n", - "16_89268636_C/A == 16_89284634_GTGTTT/G\n", - "16_88688905_deletion == 16_89284634_GTGTTT/G\n", - "16_88489784_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89282455_G/A == 16_89284634_GTGTTT/G\n", - "16_89182742_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281983_TC/T == 16_89284634_GTGTTT/G\n", - "16_89282834_CTGTT/C == 16_89284634_GTGTTT/G\n", - "16_89284147_T/A == 16_89284634_GTGTTT/G\n", - "16_89133200_deletion == 16_89284634_GTGTTT/G\n", - "16_89284140_TTTTC/T == 16_89284634_GTGTTT/G\n", - "16_89321706_deletion == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89283233_-/T == 16_89284634_GTGTTT/G\n", - "16_89284209_TTCTC/T == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89281396_C/A == 16_89284634_GTGTTT/G\n", - "16_89258980_deletion == 16_89284634_GTGTTT/G\n", - "16_89284241_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89282136_C/T == 16_89284634_GTGTTT/G\n", - "16_89277486_deletion == 16_89284634_GTGTTT/G\n", - "16_89282947_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_88788350_deletion == 16_89284634_GTGTTT/G\n", - "16_89284129_CTTTTT/C == 16_89284634_GTGTTT/G\n", - "16_89285157_GTTTC/G == 16_89284634_GTGTTT/G\n", - "16_89284634_GTGTTT/G == 16_89284634_GTGTTT/G\n", - "16_89217282_deletion == 16_89284634_GTGTTT/G\n", - "16_89283207_CT/C == 16_89284634_GTGTTT/G\n", - "16_89285171_CTTCT/C == 16_89284634_GTGTTT/G\n", - "16_89190071_deletion == 16_89284634_GTGTTT/G\n" - ] - }, - { - "data": { - "text/html": [ - "
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With 16_89284634_GTGTTT/GWithout 16_89284634_GTGTTT/G
CountPercentCountPercentp-value
HP:0001249 (Intellectual disability)1555.56%17980.63%0.005872
HP:0011446 (Abnormality of higher mental function)1970.37%20190.13%0.007468
HP:0010938 (Abnormal external nose morphology)1381.25%12192.37%0.153085
HP:0007018 (Attention deficit hyperactivity disorder)7100.00%5472.00%0.182109
HP:0000534 (Abnormal eyebrow morphology)1071.43%11682.27%0.299278
HP:0001155 (Abnormality of the hand)2278.57%16768.44%0.385988
HP:0000729 (Autistic behavior)342.86%5359.55%0.445576
HP:0000365 (Hearing impairment)770.00%9078.95%0.452661
HP:0012758 (Neurodevelopmental delay)1493.33%16295.86%0.500526
HP:0000343 (Long philtrum)1173.33%11080.29%0.508920
HP:0000356 (Abnormality of the outer ear)675.00%7179.78%0.667201
HP:0004322 (Short stature)1453.85%13658.37%0.679803
HP:0000325 (Triangular face)675.00%7764.17%0.711830
HP:0006482 (Abnormality of dental morphology)2385.19%20183.75%1.000000
\n", - "
" - ], - "text/plain": [ - " With 16_89284634_GTGTTT/G \\\n", - " Count \n", - "HP:0001249 (Intellectual disability) 15 \n", - "HP:0011446 (Abnormality of higher mental function) 19 \n", - "HP:0010938 (Abnormal external nose morphology) 13 \n", - "HP:0007018 (Attention deficit hyperactivity dis... 7 \n", - "HP:0000534 (Abnormal eyebrow morphology) 10 \n", - "HP:0001155 (Abnormality of the hand) 22 \n", - "HP:0000729 (Autistic behavior) 3 \n", - "HP:0000365 (Hearing impairment) 7 \n", - "HP:0012758 (Neurodevelopmental delay) 14 \n", - "HP:0000343 (Long philtrum) 11 \n", - "HP:0000356 (Abnormality of the outer ear) 6 \n", - "HP:0004322 (Short stature) 14 \n", - "HP:0000325 (Triangular face) 6 \n", - "HP:0006482 (Abnormality of dental morphology) 23 \n", - "\n", - " \\\n", - " Percent \n", - "HP:0001249 (Intellectual disability) 55.56% \n", - "HP:0011446 (Abnormality of higher mental function) 70.37% \n", - "HP:0010938 (Abnormal external nose morphology) 81.25% \n", - "HP:0007018 (Attention deficit hyperactivity dis... 100.00% \n", - "HP:0000534 (Abnormal eyebrow morphology) 71.43% \n", - "HP:0001155 (Abnormality of the hand) 78.57% \n", - "HP:0000729 (Autistic behavior) 42.86% \n", - "HP:0000365 (Hearing impairment) 70.00% \n", - "HP:0012758 (Neurodevelopmental delay) 93.33% \n", - "HP:0000343 (Long philtrum) 73.33% \n", - "HP:0000356 (Abnormality of the outer ear) 75.00% \n", - "HP:0004322 (Short stature) 53.85% \n", - "HP:0000325 (Triangular face) 75.00% \n", - "HP:0006482 (Abnormality of dental morphology) 85.19% \n", - "\n", - " Without 16_89284634_GTGTTT/G \\\n", - " Count \n", - "HP:0001249 (Intellectual disability) 179 \n", - "HP:0011446 (Abnormality of higher mental function) 201 \n", - "HP:0010938 (Abnormal external nose morphology) 121 \n", - "HP:0007018 (Attention deficit hyperactivity dis... 54 \n", - "HP:0000534 (Abnormal eyebrow morphology) 116 \n", - "HP:0001155 (Abnormality of the hand) 167 \n", - "HP:0000729 (Autistic behavior) 53 \n", - "HP:0000365 (Hearing impairment) 90 \n", - "HP:0012758 (Neurodevelopmental delay) 162 \n", - "HP:0000343 (Long philtrum) 110 \n", - "HP:0000356 (Abnormality of the outer ear) 71 \n", - "HP:0004322 (Short stature) 136 \n", - "HP:0000325 (Triangular face) 77 \n", - "HP:0006482 (Abnormality of dental morphology) 201 \n", - "\n", - " \n", - " Percent p-value \n", - "HP:0001249 (Intellectual disability) 80.63% 0.005872 \n", - "HP:0011446 (Abnormality of higher mental function) 90.13% 0.007468 \n", - "HP:0010938 (Abnormal external nose morphology) 92.37% 0.153085 \n", - "HP:0007018 (Attention deficit hyperactivity dis... 72.00% 0.182109 \n", - "HP:0000534 (Abnormal eyebrow morphology) 82.27% 0.299278 \n", - "HP:0001155 (Abnormality of the hand) 68.44% 0.385988 \n", - "HP:0000729 (Autistic behavior) 59.55% 0.445576 \n", - "HP:0000365 (Hearing impairment) 78.95% 0.452661 \n", - "HP:0012758 (Neurodevelopmental delay) 95.86% 0.500526 \n", - "HP:0000343 (Long philtrum) 80.29% 0.508920 \n", - "HP:0000356 (Abnormality of the outer ear) 79.78% 0.667201 \n", - "HP:0004322 (Short stature) 58.37% 0.679803 \n", - "HP:0000325 (Triangular face) 64.17% 0.711830 \n", - "HP:0006482 (Abnormality of dental morphology) 83.75% 1.000000 " - ] - }, - "execution_count": 24, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "analysis.compare_by_variant('16_89284634_GTGTTT/G')" - ] - }, - { - "cell_type": "code", - "execution_count": 25, - "id": "f306c5ef", - "metadata": {}, - "outputs": [ - { - "data": { - "text/html": [ - "
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Inside Exon 9Outside Exon 9
CountPercentCountPercentp-value
HP:0004322 (Short stature)10762.94%836.36%0.021011
HP:0011446 (Abnormality of higher mental function)15585.16%23100.00%0.049316
HP:0001155 (Abnormality of the hand)13670.10%1990.48%0.070007
HP:0001249 (Intellectual disability)13774.86%2191.30%0.114119
HP:0007018 (Attention deficit hyperactivity disorder)4381.13%861.54%0.151609
HP:0000365 (Hearing impairment)6578.31%969.23%0.486690
HP:0000534 (Abnormal eyebrow morphology)9482.46%1076.92%0.703322
HP:0000729 (Autistic behavior)3356.90%866.67%0.749049
HP:0000325 (Triangular face)5771.25%1173.33%1.000000
HP:0010938 (Abnormal external nose morphology)9890.74%1392.86%1.000000
HP:0006482 (Abnormality of dental morphology)16184.74%2187.50%1.000000
HP:0000356 (Abnormality of the outer ear)4981.67%990.00%1.000000
HP:0000343 (Long philtrum)9279.31%1083.33%1.000000
HP:0012758 (Neurodevelopmental delay)12096.00%12100.00%1.000000
\n", - "
" - ], - "text/plain": [ - " Inside Exon 9 \\\n", - " Count Percent \n", - "HP:0004322 (Short stature) 107 62.94% \n", - "HP:0011446 (Abnormality of higher mental function) 155 85.16% \n", - "HP:0001155 (Abnormality of the hand) 136 70.10% \n", - "HP:0001249 (Intellectual disability) 137 74.86% \n", - "HP:0007018 (Attention deficit hyperactivity dis... 43 81.13% \n", - "HP:0000365 (Hearing impairment) 65 78.31% \n", - "HP:0000534 (Abnormal eyebrow morphology) 94 82.46% \n", - "HP:0000729 (Autistic behavior) 33 56.90% \n", - "HP:0000325 (Triangular face) 57 71.25% \n", - "HP:0010938 (Abnormal external nose morphology) 98 90.74% \n", - "HP:0006482 (Abnormality of dental morphology) 161 84.74% \n", - "HP:0000356 (Abnormality of the outer ear) 49 81.67% \n", - "HP:0000343 (Long philtrum) 92 79.31% \n", - "HP:0012758 (Neurodevelopmental delay) 120 96.00% \n", - "\n", - " Outside Exon 9 \\\n", - " Count Percent \n", - "HP:0004322 (Short stature) 8 36.36% \n", - "HP:0011446 (Abnormality of higher mental function) 23 100.00% \n", - "HP:0001155 (Abnormality of the hand) 19 90.48% \n", - "HP:0001249 (Intellectual disability) 21 91.30% \n", - "HP:0007018 (Attention deficit hyperactivity dis... 8 61.54% \n", - "HP:0000365 (Hearing impairment) 9 69.23% \n", - "HP:0000534 (Abnormal eyebrow morphology) 10 76.92% \n", - "HP:0000729 (Autistic behavior) 8 66.67% \n", - "HP:0000325 (Triangular face) 11 73.33% \n", - "HP:0010938 (Abnormal external nose morphology) 13 92.86% \n", - "HP:0006482 (Abnormality of dental morphology) 21 87.50% \n", - "HP:0000356 (Abnormality of the outer ear) 9 90.00% \n", - "HP:0000343 (Long philtrum) 10 83.33% \n", - "HP:0012758 (Neurodevelopmental delay) 12 100.00% \n", - "\n", - " \n", - " p-value \n", - "HP:0004322 (Short stature) 0.021011 \n", - "HP:0011446 (Abnormality of higher mental function) 0.049316 \n", - "HP:0001155 (Abnormality of the hand) 0.070007 \n", - "HP:0001249 (Intellectual disability) 0.114119 \n", - "HP:0007018 (Attention deficit hyperactivity dis... 0.151609 \n", - "HP:0000365 (Hearing impairment) 0.486690 \n", - "HP:0000534 (Abnormal eyebrow morphology) 0.703322 \n", - "HP:0000729 (Autistic behavior) 0.749049 \n", - "HP:0000325 (Triangular face) 1.000000 \n", - "HP:0010938 (Abnormal external nose morphology) 1.000000 \n", - "HP:0006482 (Abnormality of dental morphology) 1.000000 \n", - "HP:0000356 (Abnormality of the outer ear) 1.000000 \n", - "HP:0000343 (Long philtrum) 1.000000 \n", - "HP:0012758 (Neurodevelopmental delay) 1.000000 " - ] - }, - "execution_count": 25, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "analysis2 = CohortAnalysis(patientCohort, 'NM_013275.6', hpo, include_unmeasured=False, include_large_SV=False)\n", - "\n", - "analysis2.compare_by_exon(9)" - ] - }, - { - "cell_type": "code", - "execution_count": 26, - "id": "f6861157", - "metadata": {}, - "outputs": [], - "source": [ - "from genophenocorr.protein import FeatureType" - ] - }, - { - "cell_type": "code", - "execution_count": 27, - "id": "d3c6fd9d", - "metadata": {}, - "outputs": [ - { - "data": { - "text/html": [ - "
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Inside REGIONOutside REGION
CountPercentCountPercentp-value
HP:0000325 (Triangular face)5471.05%2955.77%0.091036
HP:0000365 (Hearing impairment)5775.00%4083.33%0.372195
HP:0001249 (Intellectual disability)12276.25%7280.90%0.429425
HP:0000356 (Abnormality of the outer ear)4882.76%2974.36%0.443133
HP:0000534 (Abnormal eyebrow morphology)7979.80%4783.93%0.668860
HP:0000343 (Long philtrum)7980.61%4277.78%0.679394
HP:0001155 (Abnormality of the hand)11970.41%7067.96%0.685622
HP:0012758 (Neurodevelopmental delay)10896.43%6894.44%0.713501
HP:0000729 (Autistic behavior)3356.90%2360.53%0.833053
HP:0004322 (Short stature)9358.49%5757.00%0.897211
HP:0010938 (Abnormal external nose morphology)8790.62%4792.16%1.000000
HP:0006482 (Abnormality of dental morphology)13983.73%8584.16%1.000000
HP:0011446 (Abnormality of higher mental function)13987.97%8188.04%1.000000
HP:0007018 (Attention deficit hyperactivity disorder)4275.00%1973.08%1.000000
\n", - "
" - ], - "text/plain": [ - " Inside REGION \\\n", - " Count Percent \n", - "HP:0000325 (Triangular face) 54 71.05% \n", - "HP:0000365 (Hearing impairment) 57 75.00% \n", - "HP:0001249 (Intellectual disability) 122 76.25% \n", - "HP:0000356 (Abnormality of the outer ear) 48 82.76% \n", - "HP:0000534 (Abnormal eyebrow morphology) 79 79.80% \n", - "HP:0000343 (Long philtrum) 79 80.61% \n", - "HP:0001155 (Abnormality of the hand) 119 70.41% \n", - "HP:0012758 (Neurodevelopmental delay) 108 96.43% \n", - "HP:0000729 (Autistic behavior) 33 56.90% \n", - "HP:0004322 (Short stature) 93 58.49% \n", - "HP:0010938 (Abnormal external nose morphology) 87 90.62% \n", - "HP:0006482 (Abnormality of dental morphology) 139 83.73% \n", - "HP:0011446 (Abnormality of higher mental function) 139 87.97% \n", - "HP:0007018 (Attention deficit hyperactivity dis... 42 75.00% \n", - "\n", - " Outside REGION \\\n", - " Count Percent \n", - "HP:0000325 (Triangular face) 29 55.77% \n", - "HP:0000365 (Hearing impairment) 40 83.33% \n", - "HP:0001249 (Intellectual disability) 72 80.90% \n", - "HP:0000356 (Abnormality of the outer ear) 29 74.36% \n", - "HP:0000534 (Abnormal eyebrow morphology) 47 83.93% \n", - "HP:0000343 (Long philtrum) 42 77.78% \n", - "HP:0001155 (Abnormality of the hand) 70 67.96% \n", - "HP:0012758 (Neurodevelopmental delay) 68 94.44% \n", - "HP:0000729 (Autistic behavior) 23 60.53% \n", - "HP:0004322 (Short stature) 57 57.00% \n", - "HP:0010938 (Abnormal external nose morphology) 47 92.16% \n", - "HP:0006482 (Abnormality of dental morphology) 85 84.16% \n", - "HP:0011446 (Abnormality of higher mental function) 81 88.04% \n", - "HP:0007018 (Attention deficit hyperactivity dis... 19 73.08% \n", - "\n", - " \n", - " p-value \n", - "HP:0000325 (Triangular face) 0.091036 \n", - "HP:0000365 (Hearing impairment) 0.372195 \n", - "HP:0001249 (Intellectual disability) 0.429425 \n", - "HP:0000356 (Abnormality of the outer ear) 0.443133 \n", - "HP:0000534 (Abnormal eyebrow morphology) 0.668860 \n", - "HP:0000343 (Long philtrum) 0.679394 \n", - "HP:0001155 (Abnormality of the hand) 0.685622 \n", - "HP:0012758 (Neurodevelopmental delay) 0.713501 \n", - "HP:0000729 (Autistic behavior) 0.833053 \n", - "HP:0004322 (Short stature) 0.897211 \n", - "HP:0010938 (Abnormal external nose morphology) 1.000000 \n", - "HP:0006482 (Abnormality of dental morphology) 1.000000 \n", - "HP:0011446 (Abnormality of higher mental function) 1.000000 \n", - "HP:0007018 (Attention deficit hyperactivity dis... 1.000000 " - ] - }, - "execution_count": 27, - "metadata": {}, - "output_type": "execute_result" - } - ], - "source": [ - "analysis.compare_by_protein_feature_type(FeatureType.REGION)" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "id": "693aeb10", - "metadata": {}, - "outputs": [], - "source": [] - } - ], - "metadata": { - "kernelspec": { - "display_name": "enviro", - "language": "python", - "name": "enviro" - }, - "language_info": { - "codemirror_mode": { - "name": "ipython", - "version": 3 - }, - "file_extension": ".py", - "mimetype": "text/x-python", - 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"created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P12.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P12.json index 3a5a962e..7f9291dc 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P12.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P12.json @@ -58,7 +58,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P13.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P13.json index de8a2db6..1b21b172 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P13.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P13.json @@ -58,7 +58,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P2.json index 07614bda..b65c277e 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P2.json @@ -58,7 +58,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P3.json index 48b40456..1fdcd348 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P3.json @@ -71,7 +71,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P4.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P4.json index c450dc19..c21b6f7e 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P4.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P4.json @@ -58,7 +58,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P5.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P5.json index 39d5fc2a..19c26ee6 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P5.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P5.json @@ -65,7 +65,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P6.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P6.json index b30f6087..f22ab84b 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P6.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P6.json @@ -71,7 +71,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P7.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P7.json index abb758e1..3b4dcdeb 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P7.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P7.json @@ -65,7 +65,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P8.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P8.json index c39736ac..389b1338 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P8.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P8.json @@ -58,7 +58,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P9.json b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P9.json index a699420e..9a22ad25 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P9.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_VanDongen2019_P9.json @@ -58,7 +58,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PA.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PA.json index 9a08653a..b6649b12 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PA.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PA.json @@ -137,7 +137,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PB.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PB.json index 6361a48b..d7fc8088 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PB.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PB.json @@ -137,7 +137,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PC.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PC.json index 064ad7f9..b93f0db2 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PC.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PC.json @@ -138,7 +138,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PD.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PD.json index 9dc37083..10df0e80 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PD.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PD.json @@ -116,7 +116,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PE.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PE.json index 940fab32..e7840404 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PE.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_PE.json @@ -126,7 +126,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_Pf.json b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_Pf.json index 329d8af6..1a045249 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_Pf.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Walz2015_Pf.json @@ -138,7 +138,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P1.json b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P1.json index a37b2489..b7b0a6d6 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P1.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P1.json @@ -134,7 +134,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P2.json b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P2.json index 2cab3c27..1b14fdad 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P2.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P2.json @@ -124,7 +124,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P3.json b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P3.json index 50bde0c6..3305c18a 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P3.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P3.json @@ -146,7 +146,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P4.json b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P4.json index 4aaace1f..7533183d 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P4.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Willemsen2010_P4.json @@ -124,7 +124,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/notebooks/KBG/phenopackets/PMID_36446582_Youngs2011.json b/notebooks/KBG/phenopackets/PMID_36446582_Youngs2011.json index f8891c77..ba7925fd 100644 --- a/notebooks/KBG/phenopackets/PMID_36446582_Youngs2011.json +++ b/notebooks/KBG/phenopackets/PMID_36446582_Youngs2011.json @@ -177,7 +177,7 @@ } ], "metaData": { - "created": "2023-04-24T19:37:25.478348970Z", + "created": "2023-09-15T19:23:49.837050914Z", "createdBy": "ORCID:0000-0003-2598-6622", "resources": [ { diff --git a/src/genophenocorr/analysis/predicate/_all_predicates.py b/src/genophenocorr/analysis/predicate/_all_predicates.py index 4f330999..9c7c3d76 100644 --- a/src/genophenocorr/analysis/predicate/_all_predicates.py +++ b/src/genophenocorr/analysis/predicate/_all_predicates.py @@ -135,7 +135,7 @@ def test(self, patient: Patient, query: str) -> typing.Optional[PatientCategory] raise ValueError(f"query must be type string but was type {type(query)}") vars = set() for var in patient.variants: - print(f"{var.variant_string} == {query}") + #print(f"{var.variant_string} == {query}") if var.variant_string == query: vars.add(var) if len(vars) == 1: