Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC91_chr12_28185456_28555166	28267852	G G	GTAATATA others(40): Show GTAATATATAATTATATATAATTATATAGTAATATATAATTATATTAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03491.hp2 HG02717.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0173 a0001c0001t0001g0113 a0001c0001t0001g0173	2	242	0.0083	47	c.109 others(64): Show c.109+8437_109+8438insGTAATATATAATTATATTATTAATATAT AATTATATATAATTATATA	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCNB1IP1_chr14_20306370_20338279	20332005	C C	CATATATA others(40): Show CATATATATATATATATGATGTGTATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	418	0.0024	47	c.-43 others(66): Show c.-431+1248_-431+1249insATATATATATATATATATATGTATAC ACATCATATATATATATATAT	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding	1/6			chr14	TogoVar
CCNY_chr10_35331509_35577667	35368682	A A	AGCCCGGC others(40): Show AGCCCGGCCCCAGGCGTCAGGGCAGGCCGCTGTGGGGTGGGCGGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp2 HG01891.hp1 others(9): Show HG00738.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp2 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 others(9): Show a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0019g0019	12	296	0.0405	47	c.154 others(66): Show c.154+31478_154+31524dupCCGGCCCCAGGCGTCAGGGCAGGCCG CTGTGGGGTGGGCGGTGTGGC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCR9_chr3_45881543_45908174	45882527	A A	AAGTAGAG others(40): Show AAGTAGAGGACTGAAGTAAAATTAATTTTTTCTGTGCCAGAGACTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	424	0.0024	47	c.-41 others(58): Show c.-4157_-4156insAGTAGAGGACTGAAGTAAAATTAATTTTTTCTGT GCCAGAGACTGTG	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding		4015		chr3	TogoVar
CCSER2_chr10_84323589_84523517	84512395	T T	TGTGTGTG others(40): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0049 a0003c0004t0007g0049	1	370	0.0027	47	c.232 others(66): Show c.2326-1053_2326-1052insTGTGTGTGTGTGAGAGAGAGAGAGAG AGAGAGAGAGAGAGGGGGAGG	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD247_chr1_167425640_167523529	167482993	A A	ATCTTTCT others(40): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	374	0.0027	47	c.58+ others(64): Show c.58+35414_58+35415insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	1/7			chr1	TogoVar
CD247_chr1_167425640_167523529	167483013	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01516.hp2 HG01517.hp2 others(8): Show HG00140.hp2 HG01516.hp2 HG01517.hp2 HG01993.hp1 HG02148.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03704.hp2 NA18940.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 others(8): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0002g0205 a0001c0001t0002g0312 a0001c0001t0002g0350 a0001c0001t0004g0162	11	374	0.0294	47	c.58+ others(64): Show c.58+35394_58+35395insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	1/7			chr1	TogoVar
CD44_chr11_35134171_35237402	35225126	A A	AAGCACTT others(40): Show AAGCACTTGAACTATGGCTAGTTCAAGCACTTGAACTATGGCTAGTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00733.hp1 others(27): Show HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01123.hp2 HG01167.hp2 HG01261.hp1 HG01952.hp2 HG01993.hp1 HG02300.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp1 HG03471.hp2 HG03710.hp2 HG04199.hp1 NA18940.hp1 NA18948.hp1 NA18955.hp1 NA18961.hp1 NA18975.hp1 NA18979.hp2 NA18986.hp1 NA18987.hp2 NA18997.hp1 NA19005.hp2 NA19054.hp2 NA19062.hp2 NA19067.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0001t0014 a0001c0001t0025 others(2): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0025 a0001c0004t0004 a0002c0003t0004	a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0004g0035 others(26): Show a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0042 a0001c0001t0004g0050 a0001c0001t0004g0084 a0001c0001t0004g0109 a0001c0001t0004g0118 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0146 a0001c0001t0004g0154 a0001c0001t0004g0157 a0001c0001t0004g0198 a0001c0001t0004g0214 a0001c0001t0004g0222 a0001c0001t0004g0258 a0001c0001t0004g0265 a0001c0001t0004g0314 a0001c0001t0004g0331 a0001c0001t0004g0349 a0001c0001t0014g0259 a0001c0001t0025g0066 a0001c0004t0004g0018 a0001c0004t0004g0058 a0001c0004t0004g0059 a0001c0004t0004g0119 a0002c0003t0004g0057	30	378	0.0794	47	c.202 others(66): Show c.2024+3395_2024+3396insGCACTTGAACTATGGCTAGTTCAAGC ACTTGAACTATGGCTAGTTCA	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDC73_chr1_193117031_193259815	193161954	A A	ATATTATA others(40): Show ATATTATATTGTATATATTATATTATATTGTATATATTATATATTATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18972.hp1 HG01109.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0230 a0001c0001t0001g0187 a0001c0001t0001g0230	2	274	0.0073	47	c.972 others(64): Show c.972+9526_972+9527insTTATATTATATTGTATATATTATATATT ATCTATTATATTGTATATA	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC73_chr1_193117031_193259815	193162006	A A	ATATTATA others(40): Show ATATTATATTGTATATATTATATTATATTGTATATATTATATATTATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG02572.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0203 a0001c0001t0001g0204	2	274	0.0073	47	c.972 others(64): Show c.972+9578_972+9579insTTATATTATATTGTATATATTATATATT ATCTATTATATTGTATATA	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDCA7_chr2_173349872_173373997	173372025	G G	GATTTTTA others(40): Show GATTTTTAAAATGTAAACATTATATATATATATATATATATATAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02622.hp2 HG02717.hp1 others(7): Show HG00733.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0003t0008 a0001c0004t0008	a0001c0001t0001g0045 a0001c0001t0006g0005 a0001c0001t0008g0013 others(3): Show a0001c0001t0001g0045 a0001c0001t0006g0005 a0001c0001t0008g0013 a0001c0001t0008g0102 a0001c0003t0008g0013 a0001c0004t0008g0013	10	460	0.0217	47	c.43 others(58): Show c.4361_*4362insATTTTTAAAATGTAAACATTATATATATATATAT ATATATATAACTT	CDCA7	ENSG00000144354.15	transcript	ENST00000306721.8	protein_coding		3029		chr2	TogoVar
CDH11_chr16_64938753_65127063	65125979	T T	TTTGATGC others(40): Show TTTGATGCGCCTCTCCTCAGACTCTGAAGATAGCCAGACCCTGCTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0007 a0002c0002t0006g0007	1	308	0.0033	47	c.-44 others(58): Show c.-4444_-4398dupCTCAGCAGGGTCTGGCTATCTTCAGAGTCTGAGG AGAGGCGCATCAA	CDH11	ENSG00000140937.14	transcript	ENST00000268603.9	protein_coding		3917		chr16	TogoVar
CDH1_chr16_68732292_68840537	68745557	T T	TATATATA others(40): Show TATATATATGTATATATATATATATATGTATATATATATGTATGTGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	316	0.0032	47	c.163 others(64): Show c.163+7152_163+7153insATGTATATATATATATATATGTATATAT ATATGTATGTGTAATATAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61914519	T T	TGGAATCA others(40): Show TGGAATCAACTGAGATCGGTACAGGCTCAGCCTCAGCAGAATCACCCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG03195.hp2 others(1): Show HG02922.hp2 HG03139.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0052 a0001c0003t0053 others(1): Show a0001c0003t0017 a0001c0003t0052 a0001c0003t0053 a0001c0003t0054	a0001c0003t0017g0067 a0001c0003t0052g0064 a0001c0003t0053g0074 others(1): Show a0001c0003t0017g0067 a0001c0003t0052g0064 a0001c0003t0053g0074 a0001c0003t0054g0086	4	106	0.0377	47	c.137 others(66): Show c.1374+3921_1374+3922insTGAGATCGGTACAGGCTCAGCCTCAG CAGAATCACCCCGGAATCAAC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65782021	T T	TCTCTCCT others(40): Show TCTCTCCTCTTTCTCTCTTTCTCCCTTTCTCCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0043 a0002c0014t0043	a0002c0014t0043g0105 a0002c0014t0043g0105	1	208	0.0048	47	c.210 others(66): Show c.210+18971_210+18972insCTCCTCTTTCTCTCTTTCTCCCTTTC TCCCTTCCTTCCTTCCTTCCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65782028	C C	CTCTTTCT others(40): Show CTCTTTCTCCCTTTCTCCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0026 a0002c0015t0026	a0002c0015t0026g0001 a0002c0015t0026g0001	1	208	0.0048	47	c.210 others(66): Show c.210+18976_210+18977insTCTTTCTCCCTTTCTCCCTTCTTCCT TCCTTCCTTCCTTCCTTCCTT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11			chr18	TogoVar
CDK20_chr9_87961441_87979533	87970319	C C	CCATCTAA others(40): Show CCATCTAACGCTCAGGCTGCACTATCGCCATCAGTACCTCAGCACTAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0075 a0005c0009t0002g0075	1	440	0.0023	47	c.563 others(62): Show c.563+248_563+249insATAGTGCTGAGGTACTGATGGCGATAGTGC AGCCTGAGCGTTAGATG	CDK20	ENSG00000156345.18	transcript	ENST00000325303.9	protein_coding	5/7			chr9	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0155 a0001c0003t0023g0155	1	194	0.0052	47	c.272 others(66): Show c.272-20398_272-20397insGAAAGAAAGAAAGAAAGAAAGAAAGA AGGAAAGAAGGAAAGAAAGAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAGAAGG others(40): Show AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0084 a0001c0002t0018g0084	1	194	0.0052	47	c.272 others(66): Show c.272-20398_272-20397insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAAGAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp2 others(19): Show HG00099.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG01109.hp1 HG01258.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02273.hp2 HG02896.hp1 HG02897.hp2 HG03239.hp1 NA18522.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0003t0002 a0001c0004t0001 a0001c0004t0010 a0001c0006t0042	a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0168 others(19): Show a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0003g0169 a0001c0001t0004g0138 a0001c0001t0004g0179 a0001c0001t0008g0186 a0001c0001t0012g0079 a0001c0001t0012g0188 a0001c0001t0050g0173 a0001c0002t0001g0107 a0001c0002t0001g0112 a0001c0002t0001g0184 a0001c0002t0004g0120 a0001c0002t0008g0028 a0001c0003t0002g0082 a0001c0004t0001g0091 a0001c0004t0010g0018 a0001c0004t0010g0019 a0001c0006t0042g0190	22	194	0.1134	47	c.272 others(66): Show c.272-20399_272-20398insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAAGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03139.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0022 a0001c0004t0007 a0001c0001t0022 a0001c0004t0007	a0001c0001t0022g0017 a0001c0004t0007g0045 a0001c0004t0007g0059 a0001c0001t0022g0017 a0001c0004t0007g0045 a0001c0004t0007g0059	3	194	0.0155	47	c.272 others(66): Show c.272-20399_272-20398insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3299550	C C	CTTCTTCT others(40): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0144 a0001c0007t0002g0144	1	262	0.0038	47	c.28 others(58): Show c.2833_*2834insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2475		chr19	TogoVar
CENPW_chr6_126335115_126353875	126347322	T T	TTAGAGTT others(40): Show TTAGAGTTCCCATGTACCCTGTATCCAGTTTCTCATAATCCTAATGTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	292	0.0034	47	c.240 others(64): Show c.240+1006_240+1052dupAGAGTTCCCATGTACCCTGTATCCAGTT TCTCATAATCCTAATGTCT	CENPW	ENSG00000203760.9	transcript	ENST00000368328.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CERS3_chr15_100395395_100533950	100466831	C C	CTTTCTCT others(40): Show CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19060.hp2 HG01891.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0238 a0001c0001t0002g0017 a0001c0001t0002g0238	2	362	0.0055	47	c.845 others(64): Show c.845+2546_845+2547insAGAGAGAGAGAGAGAGAGAGAAAGAGAG AAAGAGAGAAAGAGAGAAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466839	C C	CTTTCTCT others(40): Show CTTTCTCTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19086.hp2 NA18969.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0269 a0001c0001t0002g0022 a0001c0001t0002g0269	2	362	0.0055	47	c.845 others(64): Show c.845+2538_845+2539insAGAGAGAAAGAGAGAGAGAGAGAGAGAG AAAGAGAGAAAGAGAGAAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466848	T T	TTTCTCTC others(40): Show TTTCTCTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18939.hp2 HG01515.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0094 a0001c0001t0002g0030 a0001c0001t0002g0094	2	362	0.0055	47	c.845 others(64): Show c.845+2529_845+2530insGAGAGAGAAAGAGAGAAAGAGAGAGAGA GAGAGAGAGAAAGAGAGAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466849	T T	TTCTCTCT others(40): Show TTCTCTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	362	0.0028	47	c.845 others(64): Show c.845+2528_845+2529insGAAGAGAGAAAGAGAGAAAGAGAGAGAG AGAGAGAGAGAAAGAGAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(40): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0022 a0022	a0022c0054 a0022c0054	a0022c0054t0003 a0022c0054t0003	a0022c0054t0003g0087 a0022c0054t0003g0087	1	449	0.0022	47	c.112 others(66): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAAAAAAAGAAAAAA AAAAAAGAAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP52_chr17_9571642_9648447	9622549	A A	AAGAAGAA others(40): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0215 a0001c0005t0004g0215	1	316	0.0032	47	c.102 others(66): Show c.1026-6122_1026-6121insGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP74_chr1_1916957_2008786	1948919	T T	TCCTTCCT others(40): Show TCCTTCCTTCCTCTTTCCCTCCCTTCTTTCCTTCCCTTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0059 a0059	a0059c0093 a0059c0093	a0059c0093t0001 a0059c0093t0001	a0059c0093t0001g0072 a0059c0093t0001g0072	1	278	0.0036	47	c.217 others(66): Show c.2177-1866_2177-1865insGAGGGAGGGAAAGGGAAGGAAAGAAG GGAGGGAAAGAGGAAGGAAGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFI_chr4_109735695_109806999	109753580	T T	TATATAAT others(40): Show TATATAATGTATAATTTTATATTATATATTATCTAATGTATAATTTTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	354	0.0028	47	c.905 others(64): Show c.905-1078_905-1077insTAAAATTATACATTAGATAATATATAAT ATAAAATTATACATTATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CGGBP1_chr3_88046950_88064005	88050344	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	47	c.51 others(58): Show c.5128_*5129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding		1605		chr3	TogoVar
CHI3L1_chr1_203173931_203191704	203188788	G G	GTCGAGAG others(40): Show GTCGAGAGTTTAGATGAACTCATATCTTCATGATGATCTAAAAATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	468	0.0021	47	c.-21 others(58): Show c.-2166_-2165insACTATTTTTAGATCATCATGAAGATATGAGTTCA TCTAAACTCTCGA	CHI3L1	ENSG00000133048.13	transcript	ENST00000255409.8	protein_coding		2085		chr1	TogoVar
CHODL_chr21_18239833_18272370	18248554	T T	TTACATTA others(40): Show TTACATTACCTTTATAAAAGGTAATGTATTTTATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0248 a0001c0001t0012g0248	1	402	0.0025	47	c.79+ others(62): Show c.79+3255_79+3301dupCATTACCTTTATAAAAGGTAATGTATTTTA TATATATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRM3_chr1_239381568_239920450	239662911	T T	TTCTTCTT others(40): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0086 a0001c0001t0032g0086	1	116	0.0086	47	c.-24 others(68): Show c.-249-15254_-249-15253insTCTTCTTCTTCTTCTTCTTCTTCT TCTCTTCTTCTTCTTCTTCTTCT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	282	0.0036	47	c.53- others(62): Show c.53-5281_53-5280insAAAAAAATATATATATATATATATATATAT ATATATATATATATATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST8_chr19_33616953_33778506	33757387	G G	GAAGAAAA others(40): Show GAAGAAAAGAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	254	0.0039	47	c.131 others(66): Show c.131-14020_131-14019insAGAAGAAAGAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(40): Show TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0340 a0001c0001t0004g0340	1	372	0.0027	47	c.232 others(64): Show c.2325-165_2325-164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CLDN8_chr21_30209006_30221097	30210292	T T	TATATATA others(40): Show TATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	47	c.49 others(58): Show c.4955_*4956insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3713		chr21	TogoVar
CLEC2B_chr12_9847369_9874354	9850145	T T	TCAAATGA others(40): Show TCAAATGATCCTCCTGCCTCAGCTTCCCAAGTAGCTGGAATTGCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0141 a0001c0001t0006g0141	1	454	0.0022	47	c.31 others(58): Show c.3154_*3155insGCCTGCAATTCCAGCTACTTGGGAAGCTGAGGCA GGAGGATCATTTG	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding		2223		chr12	TogoVar
CMC2_chr16_80961448_81011885	80965200	A A	ATATGCAT others(40): Show ATATGCATATATATATATGTATATATATATATATACGTATATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0054 a0002c0002t0054	a0002c0002t0054g0052 a0002c0002t0054g0052	1	408	0.0025	47	c.10 others(60): Show c.10892_*10893insACATATATATACGTATATATATATATATACAT ATATATATATGCATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1247		chr16	TogoVar
CNGA1_chr4_47930977_48021681	47944187	A A	AAGTATCA others(40): Show AAGTATCACTAAGGCCTCAAAGATCACAAAGATACTAAGTGATCACTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	366	0.0027	47	c.288 others(62): Show c.288-776_288-775insAAGTGATCACTTAGTATCTTTGTGATCTTT GAGGCCTTAGTGATACT	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	6/10			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77715792	T T	TAAAGGTG others(40): Show TAAAGGTGAGCATATCATTCTATAAAATGAAAGATGCTCTTGGCATCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0182 a0001c0001t0050g0182	1	328	0.0031	47	c.45 others(58): Show c.4592_*4638dupGGATGCCAAGAGCATCTTTCATTTTATAGAATGA TATGCTCACCTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	12/12	4638		chr4	TogoVar
CNTLN_chr9_17130040_17508923	17393705	T T	TTACAAAC others(40): Show TTACAAACAATAACACTTATTATTAATAAGATCTAAATGTAAGTCAAC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	218	0.0046	47	c.208 others(64): Show c.2080-827_2080-781dupACAAACAATAACACTTATTATTAATAAG ATCTAAATGTAAGTCAACT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	14/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTNAP2_chr7_146111801_148425998	147586523	G G	GAAGAGGG others(40): Show GAAGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03239.hp1 HG02976.hp1 HG03239.hp1	a0001 a0003 a0001 a0003	a0001c0015 a0003c0007 a0001c0015 a0003c0007	a0001c0015t0001 a0003c0007t0017 a0001c0015t0001 a0003c0007t0017	a0001c0015t0001g0011 a0003c0007t0017g0031 a0001c0015t0001g0011 a0003c0007t0017g0031	2	40	0.0500	47	c.189 others(68): Show c.1897+24267_1897+24268insAGAGGGAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76373247	G G	GAATATAT others(40): Show GAATATATTCCACATAAATAGGTGAATATATTCCACATATATATGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp1 HG03098.hp1 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0028 a0003c0003t0007 a0002c0002t0028 a0003c0003t0007	a0002c0002t0028g0239 a0003c0003t0007g0260 a0002c0002t0028g0239 a0003c0003t0007g0260	2	274	0.0073	47	c.390 others(66): Show c.390+17751_390+17752insAATAGGTGAATATATTCCACATATAT ATGTGAAATATATTCCACATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0018 a0002c0002t0005g0018	1	274	0.0037	47	c.133 others(66): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COG6_chr13_39650662_39757628	39757120	T T	TTTCCCCT others(40): Show TTTCCCCTCAATGACATTGTAATAAAAGGAATTTTTTAATATACTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0292 a0002c0002t0006g0292	1	370	0.0027	47	c.60 others(58): Show c.6027_*6028insTTCCCCTCAATGACATTGTAATAAAAGGAATTTT TTAATATACTTAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		4493		chr13	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(40): Show GCTGCGGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0215 a0001c0006t0003g0215	1	292	0.0034	47	c.11+ others(58): Show c.11+55_11+56insGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCG GGTCCTGCGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(40): Show GCTGCGGGGGTCGCGGGGCTGCGGGGGGTCGCGGGGCTCGGCCGGGTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0001 a0001c0093t0001	a0001c0093t0001g0251 a0001c0093t0001g0251	1	292	0.0034	47	c.11+ others(58): Show c.11+63_11+64insCTGCGGGGGGTCGCGGGGCTCGGCCGGGTCCTGC GGGGGTCGCGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar

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