Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(303): Show TTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTTGGAGCACTGGGGCCTGCCGTCACCTCCCTTCTCCACTTC CGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTT CTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCA CCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCCC GCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAACACTGTGGCCCCGCTG GTCAACTCCCA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	302	0.0033	310	c.321 others(327): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCA GCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXP1_chr3_70949708_71588728	71396963	T T	TACACACA others(303): Show TACACACATATATATGTGTGTATATATATATATACACATATATATGTGTG TGTATATATATATACACATATATATATGTATATATATATACATATATATG TGTATATATATATACATATATATATGTGTATATATATATATACACACATA TATATATGTGTATATATATATACACATATATATGTGTATATATATACATA TATATGTGTATATATATACACATATATATATGTGTATATATATACATATA TATGTGTATATACATATACATATATGTGTATATACATATACATATATATA TGTGTATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20129.hp1 HG02647.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0057 a0001c0001t0021g0042 a0001c0001t0004g0057 a0001c0001t0021g0042	2	93	0.0215	310	c.-16 others(331): Show c.-167-37720_-167-37719insGTATATACACATATATATATGTAT ATGTATATACACATATATGTATATGTATATACACATATATATGTATATAT ATACACATATATATATGTGTATATATATACACATATATATGTATATATAT ACACATATATATGTGTATATATATATACACATATATATATGTGTGTATAT ATATATATACACATATATATATGTATATATATATACACATATATATGTAT ATATATATACATATATATATGTGTATATATATATACACACACATATATAT GTGTATATATATATATACACACATATATATGTGTGT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(303): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTA TTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19043.hp1 HG02647.hp1 NA19043.hp1	a0061 a0095 a0061 a0095	a0061c0079 a0095c0066 a0061c0079 a0095c0066	a0061c0079t0007 a0095c0066t0027 a0061c0079t0007 a0095c0066t0027	a0061c0079t0007g0167 a0095c0066t0027g0153 a0061c0079t0007g0167 a0095c0066t0027g0153	2	134	0.0149	310	c.272 others(329): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCG TGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRA3_chrX_152161234_152456315	152182653	C C	CACTATAT others(303): Show CACTATATATGTATATATAGTGTATATATACATATATAGGTATAGTGTAT ATATACACTATATATACACTATATATGTATAGTATATATACACTATATAT AGTATATATACACTATATATAGTATATATACACTATATATATAGTATATA TACACTATATATATAGTATATATACACTATATATATAGTATATATACACT ATATATACACTATATATGTATATATATACATATATAGTGTATATATAGTG TATATATACACTGTATATGTATATATAGTGTATATATACACTATATATAC ACTGTATATGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 HG02132.hp1 others(10): Show HG02027.hp1 HG02080.hp2 HG02132.hp1 HG02523.hp1 NA18939.hp2 NA18948.hp1 NA18951.hp1 NA18966.hp1 NA18971.hp1 NA18986.hp1 NA18998.hp2 NA19010.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0111 others(10): Show a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0003g0087 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0162	13	64	0.2031	310	c.114 others(329): Show c.1143+7076_1143+7077insACATATACAGTGTATATATAGTGTAT ATATACACTATATATACATATACAGTGTATATATACACTATATATACACT ATATATGTATATATATACATATATAGTGTATATATAGTGTATATATACTA TATATATAGTGTATATATACTATATATATAGTGTATATATACTATATATA TAGTGTATATATACTATATATAGTGTATATATACTATATATAGTGTATAT ATACTATACATATATAGTGTATATATAGTGTATATATACACTATACCTAT ATATGTATATATACACTATATATACATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182653	C C	CACTATAT others(303): Show CACTATATATGTATATATAGTGTATATATACATATATAGGTATAGTGTAT ATATACACTATATATACACTATATATGTATAGTATATATACACTATATAT AGTATATATACACTATATATAGTATATATACACTATATATATAGTATATA TACACTATATATATAGTATATATACACTATATATATAGTATATATACACT GTATATACACTATATATGTATATATATACATATATAGTGTATATATAGTG TATATATACACTGTATATGTATATATAGTGTATATATACACTATATATAC ACTGTATATGT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	52	0.0192	310	c.114 others(329): Show c.1143+7076_1143+7077insACATATACAGTGTATATATAGTGTAT ATATACACTATATATACATATACAGTGTATATATACACTATATATACACT ATATATGTATATATATACATATATAGTGTATATACAGTGTATATATACTA TATATATAGTGTATATATACTATATATATAGTGTATATATACTATATATA TAGTGTATATATACTATATATAGTGTATATATACTATATATAGTGTATAT ATACTATACATATATAGTGTATATATAGTGTATATATACACTATACCTAT ATATGTATATATACACTATATATACATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRB3_chr15_26538552_26778066	26627365	T T	TCAAGTTT others(303): Show TCAAGTTTTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18969.hp1 NA19056.hp1 others(1): Show NA18968.hp2 NA18969.hp1 NA19056.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0107 a0001c0001t0002g0108 others(1): Show a0001c0001t0002g0045 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0153	4	121	0.0331	310	c.241 others(327): Show c.241-5832_241-5831insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAGAAAAAAAAACTTG	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805379	G G	GCCCAGGA others(303): Show GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCTCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	244	0.0041	310	c.12 others(321): Show c.1213_*1214insCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGG CCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCTCCTCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1093		chr2	TogoVar
GANC_chr15_42268201_42358666	42341093	T T	TAAAAAGT others(303): Show TAAAAAGTGTAATTATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02717.hp1 others(6): Show HG02486.hp2 HG02572.hp1 HG02717.hp1 HG03098.hp1 HG03195.hp1 HG03579.hp1 NA18906.hp1 NA20129.hp1 NA21309.hp2	a0003 a0003	a0003c0008 a0003c0013 a0003c0008 a0003c0013	a0003c0008t0006 a0003c0008t0013 a0003c0013t0006 a0003c0008t0006 a0003c0008t0013 a0003c0013t0006	a0003c0008t0006g0133 a0003c0008t0006g0134 a0003c0008t0006g0135 others(6): Show a0003c0008t0006g0133 a0003c0008t0006g0134 a0003c0008t0006g0135 a0003c0008t0013g0132 a0003c0008t0013g0136 a0003c0008t0013g0137 a0003c0013t0006g0015 a0003c0013t0006g0130 a0003c0013t0006g0131	9	231	0.0390	310	c.215 others(327): Show c.2152+353_2152+354insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAGTGTAATTA	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(303): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01070.hp2 others(27): Show HG00558.hp1 HG00558.hp2 HG01070.hp2 HG01175.hp1 HG01258.hp1 HG01361.hp2 HG01943.hp2 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02280.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03669.hp1 HG03834.hp2 NA18969.hp2 NA18977.hp1 NA18984.hp1 NA18999.hp1 NA19000.hp1 NA19011.hp1 NA19057.hp1 NA19065.hp2 NA19081.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0009 a0008c0006 a0001c0001 a0004c0009 a0008c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0004c0009t0001 a0008c0006t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0016 others(4): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0005g0001 a0001c0001t0006g0001 a0004c0009t0001g0026 a0008c0006t0002g0001	30	259	0.1158	310	c.-32 others(321): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GET4_chr7_871554_901436	889893	T T	TAGGACGG others(303): Show TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGT CTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0112 a0001c0019t0001g0112	1	289	0.0035	310	c.467 others(327): Show c.467-1027_467-1026insTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGCCTGGGAG TGGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GJB3_chr1_34776214_34791364	34777656	T T	TCATCACA others(303): Show TCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCC CAGCCACCTCCATCATCACACACATTCACAACCACACATGCACACAGCCT CCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACACA TGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATT CACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACC ATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCA GCCACCTCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	377	0.0027	310	c.-41 others(321): Show c.-4148_-4147insCATCACACACATTCACAACCACACATGCACACAG CCTCCCACACCACCCCAGCCACCTCCATCATCACACACATTCACAACCAC ACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACAC ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCC ACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCACCTCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3557		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777717	A A	ATCATCAC others(303): Show ATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACACAT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGC CATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCC AGCCATCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01361.hp1 HG02083.hp2 others(1): Show HG00323.hp2 HG01361.hp1 HG02083.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	4	399	0.0100	310	c.-40 others(321): Show c.-4087_-4086insTCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACA CATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTC CACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGC CTCCCACACCACCCCAGCCATCTCCG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3496		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777717	A A	ATCATCAC others(303): Show ATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCACCTCCATCATCACACACAT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCAC CATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCC AGCCATCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03579.hp1 HG02055.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	397	0.0050	310	c.-40 others(321): Show c.-4087_-4086insTCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACA CGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTC CATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGC CTCCCACACCACCCCAGCCATCTCCG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3496		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777729	A A	ATTCACAA others(303): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC ACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCACCTCCGCCATCACACACGTTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGCCATCACACACGT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGC CATCACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	347	0.0029	310	c.-40 others(321): Show c.-4075_-4074insTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACA CGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC TGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCTGCCATCACACACG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3484		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777729	A A	ATTCACAA others(303): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCC GCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCACCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCTGCCATCACACACGTTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGCCATCACACACGT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGC CATCACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	347	0.0029	310	c.-40 others(321): Show c.-4075_-4074insTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACGTTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGCCATCACACA CGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC TGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCTGCCATCACACACG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3484		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777774	T T	TCTCCATC others(303): Show TCTCCATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCATCTCCATCATCACACACATTCACAACCACACATGCACA CAGCCTCCCACACCACCCCAGCCACCTCCATCATCACACACATTCACAAC CACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACA CACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATC TCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	374	0.0027	310	c.-40 others(321): Show c.-4030_-4029insCTCCATCATCACACACATTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCATCTCCATCATCACACACATTCAC AACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCATCATC ACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCC ATCTCCACCATCACACACATTCACAACCACACATGCACACAGCCTCCCAC ACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCAC ACAGCCTCCCACACCACCCCAGCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3439		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777774	T T	TCTCCGCC others(303): Show TCTCCGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCACCTCCGCCATCACACACATTCACAACCACACATGCACA CAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACATTCACAAC CACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACA CACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACC TCCACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	374	0.0027	310	c.-40 others(321): Show c.-4030_-4029insCTCCGCCATCACACACATTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACATTCAC AACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATC ACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCC ATCTCCGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCAC ACCACCCCAGCCACCTCCACCATCACACACATTCACAACCACACATGCAC ACAGCCTCCCACACCACCCCAGCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3439		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777774	T T	TCTCCGCC others(303): Show TCTCCGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCACCTCCGCCATCACACACATTCACAACCACACATGCACA CAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACATTCACAAC CACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACA CACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATC TCCACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	374	0.0027	310	c.-40 others(321): Show c.-4030_-4029insCTCCGCCATCACACACATTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACATTCAC AACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATC ACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCC ATCTCCGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCAC ACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACACATGCAC ACAGCCTCCCACACCACCCCAGCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3439		chr1	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(303): Show GGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGG AAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAG GGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0004 a0009c0009t0004	a0009c0009t0004g0028 a0009c0009t0004g0028	1	14	0.0714	310	c.229 others(329): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(303): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAG GGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0034 a0008c0006t0034	a0008c0006t0034g0003 a0008c0006t0034g0003	1	14	0.0714	310	c.229 others(329): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGGAAGG others(303): Show GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGGAGGGAGGGAGGGGGA GGGAGGGAGGGGGAGGGAGGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGG GAGGGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGAAAG GAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGA AGGGAGGGAGGGAGGGGAAGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAG GGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0049 a0003c0025t0049	a0003c0025t0049g0037 a0003c0025t0049g0037	1	14	0.0714	310	c.229 others(329): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCC CTTCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCTTTCCTTCCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCCT CCCCCTCCCTCCCTCCCTCCCTCCCCCTCCCTCCCTCCCCCTCCCTCCCT CCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GMDS_chr6_1618806_2250605	1897977	C C	CCCTGGCC others(303): Show CCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTGCCAT CCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGC CTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGAC ACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTT GCCATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATC CTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCACCCTTGCCATCC TGGACACCTAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	132	0.0076	310	c.771 others(329): Show c.771+32125_771+32126insATAGGTGTCCAGGATGGCAAGGGTGG CCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGA TGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGAT AGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAG GGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTC CAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGAGGCC AGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898101	T T	TCCTGGCC others(303): Show TCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCAT CCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGC CTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGAC ACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTT GCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCTATC CTGGCCACCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCC TGGACACCTAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0110	1	91	0.0110	310	c.771 others(329): Show c.771+32001_771+32002insGTAGGTGTCCAGGATGGCAAGGGAGG CCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGA TGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGT AGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAG GGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTC CAGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCC AGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(303): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCC CCGCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	244	0.0082	310	c.31 others(321): Show c.3138_*3139insGGGAGGGGCGGGGCGGGGCGGGGCGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGC CACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACA CGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GPATCH3_chr1_26885488_26905467	26904035	T T	TAAATTAA others(303): Show TAAATTAAATAAATAAATAGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCG CAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCAC AGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	258	0.0039	310	c.-35 others(321): Show c.-3594_-3593insTTTATTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGC AAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCTATTTATTTATTTAATTT	GPATCH3	ENSG00000198746.13	transcript	ENST00000361720.10	protein_coding		3569		chr1	TogoVar
GPC6_chr13_93221807_94413020	93453550	T T	TGAGTGTT others(303): Show TGAGTGTTACAACTCTTTTTTTTTTTTTTTGAGACAGCGTCTGGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGAC TACAGGAGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CACGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02055.hp2 HG02451.hp2 others(2): Show HG01256.hp2 HG02055.hp2 HG02451.hp2 HG04228.hp1 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0015 a0002c0002t0033 others(1): Show a0001c0001t0001 a0001c0001t0015 a0002c0002t0033 a0003c0004t0003	a0001c0001t0001g0022 a0001c0001t0015g0036 a0002c0002t0033g0041 others(2): Show a0001c0001t0001g0022 a0001c0001t0015g0036 a0002c0002t0033g0041 a0003c0004t0003g0048 a0003c0004t0003g0049	5	62	0.0806	310	c.161 others(329): Show c.161-91697_161-91696insTTTTTTTTTTTTTGAGACAGCGTCTG GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCAAGTAG CTGGGACTACAGGAGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCACGCCCGGCCGAGTGTTACAACTCTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66683367	T T	TATATATA others(303): Show TATATATATATATATATGTTCATATATATATATGTTCATATATATATGTT CATATATATATGTTCATATATATATGTACATATATATGTTCATATATATA TGTTCATATATATATGTACATATATATGTACATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATATGTTCATATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATATGTTCATATATATATGTTCATATATATATATGTTCATA TATATATGTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	121	0.0083	310	c.143 others(327): Show c.143+2194_143+2195insATATGTTCATATATATATATGTTCATAT ATATATGTTCATATATATATGTTCATATATATATGTACATATATATGTTC ATATATATATGTTCATATATATATGTACATATATATGTACATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATATGTTCATATATATATGTTCATATATATAT ATGTTCATATATATATGTTCATATATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683367	T T	TATGTTCA others(303): Show TATGTTCATATATATATATGTTCATATATATATGTTCATATATATATGTT CATATATATATGTACATATATATGTTCATATATATATGTTCATATATATA TGTACATATATATGTACATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATA TATATATGTTCATATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATATGTTCATATATATATGTTCATATATATATATGTTCATA TATATATGTTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	121	0.0083	310	c.143 others(327): Show c.143+2184_143+2185insGTTCATATATATATATGTTCATATATAT ATGTTCATATATATATGTTCATATATATATGTACATATATATGTTCATAT ATATATGTTCATATATATATGTACATATATATGTACATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATATGTTCATATATATATGTTCATATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATATGTTCATATATATATGTTC ATATATATATATGTTCATATATATATGTTCAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR161_chr1_168074542_168141930	168110204	T T	TAATAGAA others(303): Show TAATAGAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0031 a0001c0002t0006g0031	1	320	0.0031	310	c.-44 others(327): Show c.-44-5311_-44-5310insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTATTTTTTCTATT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GPR173_chrX_53043789_53085615	53074404	T T	TTATATTT others(303): Show TTATATTTATTTATAAATAAATATATATTAATATATATTTATATTTATTT ATAAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATATATATAAATATATATAAATATATATATATTTATTTATATTTATTT ATAAATAAATATATAAATATATATATATTTATTTATATATAAATATATAT AAATCTATATTTATAGTTATTTATATATAAATATATAAATATATATATAA ATAACTATAAATATAGATTTATATATATTTATATATAAATAACTATAAAT ATAGATTTATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0025 a0001c0001t0017 a0001c0001t0025	a0001c0001t0017g0199 a0001c0001t0025g0065 a0001c0001t0017g0199 a0001c0001t0025g0065	2	191	0.0105	310	c.-97 others(327): Show c.-97-2112_-97-2111insTTATAAATAAATATATATTAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATATATATAAATATATATAAATATATATATATTTAT TTATATTTATTTATAAATAAATATATAAATATATATATATTTATTTATAT ATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATATAA ATATATATATAAATAACTATAAATATAGATTTATATATATTTATATATAA ATAACTATAAATATAGATTTATATATATTTAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074404	T T	TTATATTT others(303): Show TTATATTTATTTATAAATAAATATATATTAATATATATTTATATTTATTT ATAAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATATATATAAATATATATAAATATATATATATTTATTTATATTTATTT ATAAATAAATATATAAATATATATATATTTATTTATATATAAATATATAT AAATCTATATTTATAGTTATTTATTTATAAATATATAAATATATATATAA ATAACTATAAATATAGATTTATATATATTTATATATAAATAACTATAAAT ATAGATTTATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0192 a0001c0001t0017g0192	1	190	0.0053	310	c.-97 others(327): Show c.-97-2112_-97-2111insTTATAAATAAATATATATTAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATATATATAAATATATATAAATATATATATATTTAT TTATATTTATTTATAAATAAATATATAAATATATATATATTTATTTATAT ATAAATATATATAAATCTATATTTATAGTTATTTATTTATAAATATATAA ATATATATATAAATAACTATAAATATAGATTTATATATATTTATATATAA ATAACTATAAATATAGATTTATATATATTTAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(303): Show TTTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATAT TTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACAC TGTTTTATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp1 HG00408.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0020 a0001c0001t0005g0018 a0001c0001t0003g0020 a0001c0001t0005g0018	2	101	0.0198	310	c.132 others(328): Show c.1328+697_1328+1006dupTATATAAAACAGTGTATTTTATATATT TAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGT ATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATAT ATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTAT ATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAAC AGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTA AATATATAAAACAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRIN2A_chr16_9748408_10187428	9849139	C C	CACTGTTT others(303): Show CACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAA ATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTT TTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATA AAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATA TTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATATA CTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAAT ATATAAAATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0023 a0001c0001t0023g0023	1	97	0.0103	310	c.132 others(327): Show c.1328+616_1328+617insATATTTTATATATTTAAATATATAAAAC AGTGTATTTTATATATTTAAATATATAAAACAGTATATTTTATATATTTA AATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTAT TTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATAT AAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATAT ATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAG TGTATTTTATATATTTAAATATATAAAACAGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRM7_chr3_6856115_7746533	7128490	T T	TAAAAATC others(303): Show TAAAAATCAGACTTCTGGCCGGGGGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02896.hp2 HG03486.hp2 HG02280.hp2 HG02896.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0003 a0001c0003t0005 a0001c0001t0002 a0001c0002t0003 a0001c0003t0005	a0001c0001t0002g0051 a0001c0002t0003g0017 a0001c0003t0005g0015 a0001c0001t0002g0051 a0001c0002t0003g0017 a0001c0003t0005g0015	3	71	0.0423	310	c.520 others(329): Show c.520-17948_520-17947insTGGCCGGGGGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTA CAAAAAATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAATCAGACTTC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM8_chr7_126433598_127257941	127021337	G G	GGGAAATT others(303): Show GGGAAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02486.hp2 HG02965.hp1 others(4): Show HG00544.hp1 HG02486.hp2 HG02965.hp1 HG03195.hp2 NA19074.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0002g0013 a0001c0001t0002g0070	7	100	0.0700	310	c.727 others(329): Show c.727+85158_727+85159insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAATTTCC	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10			chr7	TogoVar
GTPBP6_chrX_299759_323796	321639	C C	CGTGGTGG others(303): Show CGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGA GGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGA CCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGC CTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGT GGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGT AAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAA ATTAGCCTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0015 a0006c0009t0001g0015	1	153	0.0065	310	c.-28 others(321): Show c.-2853_-2852insACCAGGCTAATTTTTCTTTCTTTCTTTTTTTTTT TTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGCGTC AAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGG GACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTTTTTT TTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGG TGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2844		chrX	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(303): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0278 a0001c0001t0005g0222 a0001c0001t0004g0278 a0001c0001t0005g0222	2	97	0.0206	310	c.-43 others(321): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(303): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGA TCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0361 a0003c0003t0001g0361	1	96	0.0104	310	c.-43 others(321): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCCAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597524	C C	CTCATTTC others(303): Show CTCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02559.hp2 others(2): Show HG02257.hp1 HG02258.hp1 HG02559.hp2 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0182 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184	5	423	0.0118	310	c.187 others(327): Show c.187-1101_187-1100insTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCTGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAGAAATGA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HDHD5_chr22_17132520_17164277	17146763	A A	AATCACAC others(303): Show AATCACACGTCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGC TTACCGGCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGC CCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCACACGCCCCA CACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATC GCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCATTCGA TCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTT ACCGGCCTTCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02135.hp1 HG04184.hp1 others(7): Show HG00558.hp2 HG02135.hp1 HG04184.hp1 NA18747.hp2 NA18977.hp2 NA18989.hp2 NA18991.hp1 NA19060.hp2 NA19084.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0068 a0001c0002t0001g0069 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0078	10	115	0.0870	310	c.443 others(327): Show c.443+1375_444-1647dupCGAAGGCCGGTAAGCTCACAGGAGGGCG TCACAGGTGTGGGGCGTGTGCGATGGCGTGTGATCGAATGCCGGTAAGCT CACAGGAGGGCGTCACAGGTGTGGGGCGTGTGCGATGGCGTGTGATCGAA GGCCGGTAAGCTCACAGGAGGGCGTCACAGGTGTGGGGCGTGTGCGATGG CGTGTGATCGAAGGCCGGTAAGCTCACAGGAGGGCGTCACAGGTGTGGGG CGTGTGCGATGGCGTGTGATCGAAGGCCGGTAAGCTCACAGGAGGGCGTC ACAGGTGTGGGGCGTGTGCGATGACGTGTGAT	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
HDHD5_chr22_17132520_17164277	17147082	T T	TCATCGCA others(303): Show TCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCC TTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTG AGCTTACCGGCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGA CGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCACACGCC CCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCATTCGATCACACGCC ATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTT CGATCACACGC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18999.hp1 NA19074.hp2 NA18953.hp2 NA18999.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	3	213	0.0141	310	c.443 others(327): Show c.443+1365_443+1366insGCGTGTGATCGAAGGCCGGTAAGCTCAC AGGAGGGCGTCACAGGTGTGGGGCGTGTGCGATGGCGTGTGATCGAATGC CGGTAAGCTCACAGGAGGGCGTCACAGGTGTGGGGCGTGTGCGATGGCGT GTGATCGAAGGCCGGTAAGCTCACAGGAGGGCGTCACAGGTGTGGGGCGT GTGCGATGGCGTGTGATCGAAGGCCGGTAAGCTCACAGGAGGGCGTCACA GGTGTGGGGCGTGTGCGATGGCGTGTGATCGAAGGCCGGTAAGCTCACAG GAGGGCGTCACAGGTGTGGGGCGTGTGCGATG	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
HSD17B11_chr4_87331515_87396188	87333147	T T	TGAGTCTT others(303): Show TGAGTCTTGCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0339 a0001c0008t0009g0339	1	360	0.0028	310	c.41 others(321): Show c.4128_*4129insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAGCAAGACTC	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding		3367		chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87333147	T T	TGAGTCTT others(303): Show TGAGTCTTGCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGA CTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02622.hp1 others(9): Show HG02145.hp1 HG02258.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0007 a0001c0002t0008 a0001c0002t0009 others(2): Show a0001c0001t0007 a0001c0002t0008 a0001c0002t0009 a0001c0003t0008 a0001c0006t0005	a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0136 others(9): Show a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0002t0008g0276 a0001c0002t0009g0342 a0001c0003t0008g0279 a0001c0003t0008g0280 a0001c0003t0008g0281 a0001c0003t0008g0282 a0001c0003t0008g0283 a0001c0006t0005g0156	12	371	0.0323	310	c.41 others(321): Show c.4128_*4129insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAGCAAGACTC	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding		3367		chr4	TogoVar
HSD17B7_chr1_162785702_162817823	162791518	G G	GCATTTGG others(303): Show GCATTTGGCATTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCACC GCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(146): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0002 a0001c0002t0002 a0001c0006t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0006t0002 a0002c0003t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 others(48): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0002t0002g0011 a0001c0002t0002g0072 a0001c0002t0002g0086 a0001c0006t0002g0100 a0002c0003t0002g0002 a0002c0003t0002g0018 a0002c0003t0002g0087 a0002c0003t0002g0088 a0002c0003t0002g0095 a0002c0003t0002g0096	149	167	0.8922	310	c.35+ others(323): Show c.35+697_35+698insTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCACATTTGGCATTTTT	HSD17B7	ENSG00000132196.16	transcript	ENST00000254521.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
HTR7_chr10_90735823_90863039	90772213	A A	ATTATTTT others(303): Show ATTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0192 a0001c0001t0021g0192	1	402	0.0025	310	c.540 others(329): Show c.540-22620_540-22619insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAATAA	HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding	1/3			chr10	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(303): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp2 others(17): Show HG00099.hp2 HG00639.hp2 HG00642.hp2 HG01074.hp1 HG01167.hp1 HG01433.hp2 HG01496.hp2 HG02080.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 NA18953.hp2 NA18962.hp2 NA18978.hp1 NA19000.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0002 a0001c0015 a0001c0051 others(9): Show a0001c0002 a0001c0015 a0001c0051 a0001c0052 a0002c0003 a0002c0043 a0002c0054 a0003c0014 a0003c0047 a0005c0012 a0007c0007 a0008c0081	a0001c0002t0002 a0001c0015t0002 a0001c0051t0002 others(11): Show a0001c0002t0002 a0001c0015t0002 a0001c0051t0002 a0001c0052t0002 a0002c0003t0002 a0002c0003t0003 a0002c0003t0015 a0002c0043t0002 a0002c0054t0003 a0003c0014t0016 a0003c0047t0002 a0005c0012t0021 a0007c0007t0007 a0008c0081t0001	a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0015t0002g0004 others(17): Show a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0015t0002g0004 a0001c0051t0002g0001 a0001c0052t0002g0020 a0002c0003t0002g0010 a0002c0003t0003g0163 a0002c0003t0015g0006 a0002c0003t0015g0008 a0002c0043t0002g0012 a0002c0054t0003g0140 a0003c0014t0016g0169 a0003c0047t0002g0005 a0005c0012t0021g0101 a0007c0007t0007g0167 a0007c0007t0007g0168 a0007c0007t0007g0170 a0007c0007t0007g0171 a0007c0007t0007g0172 a0008c0081t0001g0110	20	93	0.2151	310	c.132 others(329): Show c.1328-3513_1328-3512insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
ICAM3_chr19_10328776_10344624	10337272	C C	CTGGGTGT others(303): Show CTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAGAAGAAGAAGAAGAAAAGGCCAGGTGCAGTGGCTCACGCCTG TAATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAAG TTCGAGACCAGCTTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAATTAGT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0094 a0002c0004t0001g0094	1	379	0.0026	310	c.344 others(327): Show c.344-1297_344-1296insACTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATC TGCCTGCCTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGC ACCTGGCCTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTGGAGATGGAGTC TCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGCA ACCTCCACCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGTA GCTGGGACTACAGGTGTGTACTACCACACCCA	ICAM3	ENSG00000076662.11	transcript	ENST00000160262.10	protein_coding	2/6			chr19	TogoVar
ICAM3_chr19_10328776_10344624	10337272	C C	CTGGGTGT others(303): Show CTGGGTGTGGTAGTGCACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAGAAGAAGAAGAAGAAAAGGCCAGGTGCAGTGGCTCACGCCTG TAATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAAG TTCGAGACCAGCTTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAATTAGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG00741.hp1 others(54): Show HG00408.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01123.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01978.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02738.hp2 HG03098.hp2 HG03239.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18957.hp1 NA18964.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp2 NA18982.hp2 NA18987.hp2 NA19002.hp2 NA19055.hp1 NA19059.hp2 NA19064.hp2 NA19076.hp1 NA19082.hp2 NA19086.hp1 NA19089.hp2 NA20752.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0004 a0002c0017 a0004c0006 others(1): Show a0002c0004 a0002c0017 a0004c0006 a0005c0008	a0002c0004t0001 a0002c0017t0001 a0004c0006t0001 others(1): Show a0002c0004t0001 a0002c0017t0001 a0004c0006t0001 a0005c0008t0001	a0002c0004t0001g0005 a0002c0004t0001g0015 a0002c0004t0001g0038 others(16): Show a0002c0004t0001g0005 a0002c0004t0001g0015 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0044 a0002c0004t0001g0087 a0002c0004t0001g0088 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0096 a0002c0017t0001g0090 a0004c0006t0001g0011 a0004c0006t0001g0097 a0004c0006t0001g0098 a0004c0006t0001g0099 a0005c0008t0001g0041 a0005c0008t0001g0089	57	435	0.1310	310	c.344 others(327): Show c.344-1297_344-1296insACTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATC TGCCTGCCTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGC ACCTGGCCTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTGGAGATGGAGTC TCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGCA ACCTCCACCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGTA GCTGGGACTACAGGTGTGCACTACCACACCCA	ICAM3	ENSG00000076662.11	transcript	ENST00000160262.10	protein_coding	2/6			chr19	TogoVar
IFITM10_chr11_1727406_1755595	1754525	G G	GGGGATGT others(303): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGA GGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCAT GAAGAGTCACAGAGGGATGAGGGGATGGAGGGGATGGAGGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCACAG AGGGATGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCA CAGAGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGTGGGGAT GGAGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	214	0.0047	310	c.-40 others(321): Show c.-4084_-4083insTCCATCCCTCCATCCCCACATCCCCTCCATCCCT CCATCCCTCCATCCCCACATCCCTCTGTGACTCTTCATGACCCTCCATCT CCTCCATCCCTCCATCCCCTCATCCCTCTGTGACTCTTCATGACCCTCCA TCTCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCCTC CATCCCCTCATCCCTCTGTGACTCTTCATGACCCTCCATCTCCTCCATCC CTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATC CCTCCATCCCTCCATCCCCACATCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3931		chr11	TogoVar
IFITM5_chr11_293200_304526	302085	C C	CAAAAAAA others(303): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCCAGGCGAGGTGGCTCACG CCTGTAGTCTCAGCACTTTGGGAGGCCGAGGCGGGTGAATCATGAGGTCA GGAGTTCGTGACCACCCTGACCAACATGGTGAAACCCCATCTCTACTAAA AATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGAAATTCCAGCTAC TCAGGAGGCTGAGGCATGAGAATCACTTGAACCCAGGAGGCGGAGGTTGC GGTGAACCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAA ACTCCATCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	137	0.0073	310	c.-25 others(321): Show c.-2596_-2595insTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGG AGTGCAATGGCGCGATCTCGGTTCACCGCAACCTCCGCCTCCTGGGTTCA AGTGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGAATTTCAGGCACCCA CCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACC ATGTTGGTCAGGGTGGTCACGAACTCCTGACCTCATGATTCACCCGCCTC GGCCTCCCAAAGTGCTGAGACTACAGGCGTGAGCCACCTCGCCTGGCCCT TTTTTTTTTTTTTTTTTTTTTTTTTT	IFITM5	ENSG00000206013.2	transcript	ENST00000382614.2	protein_coding		2560		chr11	TogoVar

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