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
ABCC2_chr10_99777640_99857594	99814525	A A	ATATACAC others(99): Show ATATACACATATACACACACATATGTGTATATACACATATACACACACAT ATGTGTATATACACATATACACACATATGTGTATATACACATATACACAC ATATGTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp2 HG02109.hp2 others(8): Show HG01358.hp2 HG01496.hp2 HG02109.hp2 HG02809.hp1 HG02895.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 NA18974.hp1 NA19079.hp2 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0005 a0003c0004 a0004c0006 a0001c0005 a0003c0004 a0004c0006	a0001c0005t0001 a0003c0004t0001 a0004c0006t0001 a0001c0005t0001 a0003c0004t0001 a0004c0006t0001	a0001c0005t0001g0153 a0001c0005t0001g0154 a0003c0004t0001g0001 others(6): Show a0001c0005t0001g0153 a0001c0005t0001g0154 a0003c0004t0001g0001 a0003c0004t0001g0163 a0003c0004t0001g0164 a0003c0004t0001g0171 a0003c0004t0001g0182 a0003c0004t0001g0183 a0004c0006t0001g0138	11	336	0.0327	106	c.209 others(125): Show c.2094+1385_2094+1386insCACATATACACACACATATGTGTATA TACACATATACACACACATATGTGTATATACACATATACACACATATGTG TATATACACATATACACACATATGTGTATA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABI2_chr2_203323394_203437169	203338983	A A	AATATATA others(99): Show AATATATATATATATATATAAATATATATATATATATAAATATATATATA TATATATAAATATATATATATATATAAATATATATATATATATATAAATA TATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	320	0.0031	106	c.117 others(125): Show c.117+10371_117+10372insAATATATATATATATATAAATATATA TATATATATATAAATATATATATATATATAAATATATATATATATATATA AATATATATATATATATATATATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACACB_chr12_109111587_109273226	109210036	T T	TATACACA others(99): Show TATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTATA TACACACGTGTGTATATACACGTACATATGTGTATATATGTGTATATACA CACGTAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19060.hp1 NA18966.hp2 NA19060.hp1	a0003 a0011 a0003 a0011	a0003c0001 a0011c0026 a0003c0001 a0011c0026	a0003c0001t0001 a0011c0026t0004 a0003c0001t0001 a0011c0026t0004	a0003c0001t0001g0087 a0011c0026t0004g0249 a0003c0001t0001g0087 a0011c0026t0004g0249	2	308	0.0065	106	c.324 others(123): Show c.3249+686_3249+687insCACACGTGTGTATATACGTATATACACA CGTGTGTATATACGTATATACACACGTGTGTATATACACGTACATATGTG TATATATGTGTATATACACACGTACATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289073	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTC CATCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	295	0.0034	106	c.44 others(117): Show c.4490_*4491insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGATGGAGCAGGGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3317		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289073	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	106	c.44 others(117): Show c.4490_*4491insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3317		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	295	0.0034	106	c.43 others(117): Show c.4300_*4301insACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289641	C C	CTGCTCCG others(99): Show CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0022 a0001c0005t0002g0022	1	295	0.0034	106	c.39 others(117): Show c.3922_*3923insCACGGGGGACGGAGCAGAGACACGGGACGGAGCA GACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGG AGCAGAGACACGGGACGGAGCA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2749		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	295	0.0034	106	c.38 others(117): Show c.3892_*3893insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCGTGTCT others(99): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	295	0.0034	106	c.36 others(117): Show c.3635_*3636insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACA CGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2462		chr1	TogoVar
ACSM2B_chr16_20531226_20581367	20566682	G G	GTATATAT others(99): Show GTATATATAGTATATATAGTATATATATACTATATATACTATATATAATA TATACTATATATACTATATATAGTATATACTATATATACTATATATAGTA TATACTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0229 a0003c0007t0007g0229	1	388	0.0026	106	c.-8- others(121): Show c.-8-1830_-8-1829insTAGTATATACTATATATAGTATATATAGTA TATACTATATATAGTATATATAGTATATATTATATATAGTATATATAGTA TATATATACTATATATACTATATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ADAM10_chr15_58583809_58754707	58655674	A A	ATATATAT others(99): Show ATATATATACTATATATAGTATATATATATACTATATATAGTATATATAT ATACTATATATAGTATATATATATACTATATATAGTATATATATATACTA TATATAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0277 a0001c0001t0096g0277	1	342	0.0029	106	c.585 others(123): Show c.585+9422_585+9423insCTATATATAGTATATATATATACTATAT ATAGTATATATATATACTATATATAGTATATATATATACTATATATAGTA TATATATATACTATATATAGTATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAMTS15_chr11_130443645_130481645	130470148	A A	ACACACAT others(99): Show ACACACATGTATATATATATATATATACACACATGTATATATATATATAT ACACACATGTATATATATATATATACACACATGTATATATATATATATAT ATACATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0340 a0001c0001t0005g0340	1	398	0.0025	106	c.172 others(123): Show c.1720+709_1720+710insCACACATGTATATATATATATATATACA CACATGTATATATATATATATACACACATGTATATATATATATATACACA CATGTATATATATATATATATATACATG	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7			chr11	TogoVar
ADAMTS18_chr16_77277128_77440034	77334067	C C	CTATATAT others(99): Show CTATATATAATATACAGTGCTATATATGCTATATATAATATACAGTGTTA TATATTATATATAATATACAGTGTTATATATTATATATAATATACAGTGT TATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0012 a0002c0007t0012	a0002c0007t0012g0135 a0002c0007t0012g0135	1	326	0.0031	106	c.185 others(125): Show c.1859+1688_1859+1689insATATATAACACTGTATATTATATATA ATATATAACACTGTATATTATATATAATATATAACACTGTATATTATATA TAGCATATATAGCACTGTATATTATATATA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77334067	C C	CTATATAT others(99): Show CTATATATAATATACAGTGTTATATATGCTATATATAATATACAGTGTTA TATATTATATATAATATACAGTGTTATATATTATATATAATATACAGTGT TATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0117 a0004c0003t0005g0118 a0004c0003t0005g0117 a0004c0003t0005g0118	2	326	0.0061	106	c.185 others(125): Show c.1859+1688_1859+1689insATATATAACACTGTATATTATATATA ATATATAACACTGTATATTATATATAATATATAACACTGTATATTATATA TAGCATATATAACACTGTATATTATATATA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77334081	C C	CAGTGCTA others(99): Show CAGTGCTATATATGCTATATATAATATACAGTGTTATATATTATATATAA TATACAGTGTTATATATTATATATAATATACAGTGTTATATATTATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02647.hp2 HG02895.hp1 HG02897.hp2 HG03209.hp2	a0002 a0011 a0023 a0002 a0011 a0023	a0002c0007 a0011c0011 a0023c0032 a0002c0007 a0011c0011 a0023c0032	a0002c0007t0005 a0011c0011t0005 a0023c0032t0018 a0002c0007t0005 a0011c0011t0005 a0023c0032t0018	a0002c0007t0005g0177 a0011c0011t0005g0004 a0023c0032t0018g0175 others(1): Show a0002c0007t0005g0177 a0011c0011t0005g0004 a0023c0032t0018g0175 a0023c0032t0018g0176	4	326	0.0123	106	c.185 others(125): Show c.1859+1674_1859+1675insATATATTATATATAATATATAACACT GTATATTATATATAATATATAACACTGTATATTATATATAATATATAACA CTGTATATTATATATAGCATATATAGCACT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	C C	CATATGCA others(99): Show CATATGCATGTATATGTACGTATACGTACATATACATATGCATGTATATG TACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACA TATACCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0095 a0002c0011t0001g0095	1	226	0.0044	106	c.137 others(127): Show c.1373-18422_1373-18421insATATGCATGTATATGTACGTATAC GTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATAC	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72529978	A A	ATATATAA others(99): Show ATATATAATATATTATATTTATATATATATAATATATTATATTTATATAT ATATATATAATATATTATATTTATATATAATATATAATATATTATATATA TATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0151 a0003c0005t0006g0151	1	182	0.0055	106	c.504 others(125): Show c.504+18499_504+18500insATATATATATATATAATATATTATAT ATTATATATAAATATAATATATTATATATATATATATAAATATAATATAT TATATATATATAAATATAATATATTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903924	A A	AGGAAGGA others(99): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0115 a0002c0008t0001g0115	1	274	0.0037	106	c.170 others(125): Show c.1700+4193_1700+4194insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903924	A A	AGGAAGGA others(99): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0239 a0002c0008t0001g0239	1	274	0.0037	106	c.170 others(125): Show c.1700+4193_1700+4194insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903948	A A	AGGAAGGA others(99): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA AGGAAGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0001 a0002c0054t0001	a0002c0054t0001g0024 a0002c0054t0001g0024	1	274	0.0037	106	c.170 others(125): Show c.1700+4217_1700+4218insGGAAGGAAGGAAGGAAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903948	A A	AGGAAGGG others(99): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA AGGAAGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0027 a0006c0005t0002g0027	1	274	0.0037	106	c.170 others(125): Show c.1700+4217_1700+4218insGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1409775	A A	AGTGTGCC others(99): Show AGTGTGCCGAGGCCTGGCTGTGGTCATAGGGAATGATTGTCAGTGGTGCC GAGGCCTGGCTGTGGTCATGGTGCCGAGGCCTGGCCACGGTCATGGGGAA GGATTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG02083.hp1 others(12): Show HG00438.hp1 HG01243.hp2 HG02083.hp1 HG02145.hp1 HG02683.hp1 HG02735.hp2 HG02965.hp1 HG03098.hp1 HG03669.hp2 HG04184.hp1 NA18522.hp2 NA18945.hp1 NA18983.hp2 NA18989.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0017	a0001c0001t0009 a0001c0001t0031 a0001c0001t0050 others(11): Show a0001c0001t0009 a0001c0001t0031 a0001c0001t0050 a0001c0003t0009 a0001c0003t0040 a0001c0003t0045 a0001c0003t0060 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0062 a0002c0004t0028 a0002c0004t0047 a0002c0017t0006	a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0031g0059 others(12): Show a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0031g0059 a0001c0001t0050g0077 a0001c0003t0009g0046 a0001c0003t0040g0073 a0001c0003t0045g0057 a0001c0003t0060g0104 a0002c0002t0002g0066 a0002c0002t0007g0002 a0002c0002t0008g0058 a0002c0002t0062g0093 a0002c0004t0028g0020 a0002c0004t0047g0063 a0002c0017t0006g0010	15	106	0.1415	106	c.101 others(125): Show c.101-30616_101-30615insAGAATCCTTCCCCATGACCGTGGCCA GGCCTCGGCACCATGACCACAGCCAGGCCTCGGCACCACTGACAATCATT CCCTATGACCACAGCCAGGCCTCGGCACAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131036436	G G	GGTCTCAC others(99): Show GGTCTCACTCACTGCCCCAGGCCTTACTCACTGCATGGGGCCTCACTCAC TGCACTGGGTCTTACTCACTGCACCAGGGTCTTATTGCATCAGGTCTTAC TGCTCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01069.hp2 others(30): Show HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01258.hp1 HG01515.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03710.hp1 NA19043.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0019 a0001c0020 a0001c0022 a0001c0025 a0002c0012 a0002c0032 a0003c0018 a0003c0046 a0005c0011 a0005c0021 a0007c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0018 a0001c0003t0029 a0001c0004t0002 a0001c0005t0003 a0001c0005t0008 a0001c0007t0004 a0001c0019t0004 a0001c0020t0002 a0001c0022t0016 a0001c0025t0021 a0002c0012t0017 a0002c0032t0003 a0003c0018t0020 a0003c0046t0007 a0005c0011t0002 a0005c0021t0021 a0007c0039t0042	a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0208 others(30): Show a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0208 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0015g0097 a0001c0001t0016g0182 a0001c0003t0001g0152 a0001c0003t0006g0019 a0001c0003t0013g0129 a0001c0003t0013g0224 a0001c0003t0013g0225 a0001c0003t0018g0232 a0001c0003t0029g0214 a0001c0004t0002g0164 a0001c0005t0003g0056 a0001c0005t0008g0226 a0001c0007t0004g0102 a0001c0019t0004g0230 a0001c0020t0002g0180 a0001c0022t0016g0109 a0001c0025t0021g0119 a0002c0012t0017g0017 a0002c0012t0017g0158 a0002c0032t0003g0089 a0003c0018t0020g0123 a0003c0018t0020g0124 a0003c0046t0007g0126 a0005c0011t0002g0110 a0005c0021t0021g0048 a0007c0039t0042g0046	33	242	0.1364	106	c.147 others(127): Show c.1473+22146_1473+22147insGCACTGGGTCTTACTCACTGCACC AGGGTCTTATTGCATCAGGTCTTACTGCTCCAGTCTCACTCACTGCCCCA GGCCTTACTCACTGCATGGGGCCTCACTCACT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADPRHL1_chr13_113394611_113458488	113412888	A A	AGCTCGGT others(99): Show AGCTCGGTTCACCCACCGCCAACAGTACCCCACAGAACTCGGTTCACCCA CCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGTACCC TGCGGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02622.hp2 others(3): Show HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0065 a0001c0002t0066 others(2): Show a0001c0002t0020 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068	a0001c0002t0020g0065 a0001c0002t0020g0220 a0001c0002t0065g0219 others(3): Show a0001c0002t0020g0065 a0001c0002t0020g0220 a0001c0002t0065g0219 a0001c0002t0066g0190 a0001c0002t0067g0068 a0001c0002t0068g0064	6	262	0.0229	106	c.106 others(125): Show c.1062-4669_1062-4668insCTCCGCAGGGTACTGTTGGCGGTGGG TGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGT GGGGTACTGTTGGCGGTGGGTGAACCGAGC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113412958	A A	AACTCGGT others(99): Show AACTCGGTTCACCCACCGCCAACAGTACCCCGCAGAACTCGGTTCACCCA CCGCCAACAGTGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGCGCCC CACGGAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0161 a0001c0003t0009g0161	1	262	0.0038	106	c.106 others(125): Show c.1062-4739_1062-4738insCTCCGTGGGGCGCTGTTGGCGGTGGG TGAACCGAGTTCTGCGGGGCACTGTTGGCGGTGGGTGAACCGAGTTCTGC GGGGTACTGTTGGCGGTGGGTGAACCGAGT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113412993	A A	AACTCGGT others(99): Show AACTCGGTTCACCCACCGCCAACAGTGCCCCGCAGAGCTCGGTTCACCCA CCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGCGCCC CACGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02572.hp1 others(3): Show HG01891.hp2 HG02451.hp1 HG02572.hp1 HG03516.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0023 a0001c0003t0089 others(1): Show a0001c0003t0008 a0001c0003t0023 a0001c0003t0089 a0001c0003t0093	a0001c0003t0008g0251 a0001c0003t0008g0252 a0001c0003t0023g0247 others(3): Show a0001c0003t0008g0251 a0001c0003t0008g0252 a0001c0003t0023g0247 a0001c0003t0023g0250 a0001c0003t0089g0249 a0001c0003t0093g0248	6	262	0.0229	106	c.106 others(125): Show c.1062-4774_1062-4773insCTCCGTGGGGCGCTGTTGGCGGTGGG TGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGC GGGGCACTGTTGGCGGTGGGTGAACCGAGT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADSS1_chr14_104719229_104752310	104720719	T T	TCCTCGTG others(99): Show TCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGC TGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACATCTG CGTCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	106	c.-35 others(117): Show c.-3552_-3551insCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCG TCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGC TGCTGTGGACATCTGCGTCGTC	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3509		chr14	TogoVar
ADSS1_chr14_104719229_104752310	104720719	T T	TCCTCGTG others(99): Show TCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGC TGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTG CGTCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG00099.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	402	0.0050	106	c.-35 others(117): Show c.-3552_-3551insCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCG TCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGC TGCTGTGGACGTCTGCGTCGTC	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3509		chr14	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(99): Show ATATATATATAAATATATATATTTATAAATATATATTTATATATAAATAT ATATATTTATAAATATATATTTATATATATAAATATATATATTTATAAAT ATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp2 HG01243.hp2 others(16): Show HG00609.hp1 HG01167.hp2 HG01243.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp2 HG02451.hp2 HG02559.hp2 HG02717.hp2 HG02896.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG04204.hp1 NA18946.hp1 NA18970.hp1 NA18983.hp2 NA19002.hp1 NA19068.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 a0001c0001 a0001c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0004t0003 a0001c0004t0010 a0004c0005t0008	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0040 others(16): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0002g0007 a0001c0001t0002g0044 a0001c0001t0003g0100 a0001c0001t0004g0081 a0001c0001t0006g0045 a0001c0001t0008g0047 a0001c0001t0009g0039 a0001c0001t0013g0006 a0001c0001t0016g0001 a0001c0004t0003g0051 a0001c0004t0003g0052 a0001c0004t0010g0048 a0004c0005t0008g0046	19	104	0.1827	106	c.34+ others(123): Show c.34+75810_34+75811insAATATATATTTATAAATATATATATTTA TATATATAAATATATATTTATAAATATATATATTTATATATAAATATATA TTTATAAATATATATATTTATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(99): Show ATATATATATAAATATATATATTTATAAATATATATTTATATATAAATAT ATATTTATAAATATATATATTTATATATATAAATATATATATTTATAAAT ATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01167.hp1 others(8): Show HG00639.hp2 HG01071.hp2 HG01167.hp1 HG01943.hp2 HG02004.hp2 HG02698.hp2 HG03471.hp2 HG03831.hp1 NA18906.hp2 NA18977.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0002t0004 a0002c0003t0001 a0002c0003t0008 a0006c0010t0004	a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0002g0075 others(8): Show a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0002g0075 a0001c0001t0004g0078 a0001c0001t0005g0091 a0001c0001t0011g0010 a0001c0001t0013g0090 a0001c0002t0004g0076 a0002c0003t0001g0009 a0002c0003t0008g0088 a0006c0010t0004g0095	11	104	0.1058	106	c.34+ others(123): Show c.34+75810_34+75811insAATATATATTTATAAATATATATATTTA TATATATAAATATATATATTTATAAATATATATTTATATATAAATATATA TTTATAAATATATATATTTATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(99): Show ATATATATATAAATATATATATTTATAAATATATATTTATATATATATAT ATATATTTATAAATATATATTTATATATATAAATATATATATTTATAAAT ATATATT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	104	0.0096	106	c.34+ others(123): Show c.34+75810_34+75811insAATATATATTTATAAATATATATATTTA TATATATAAATATATATTTATAAATATATATATATATATATAAATATATA TTTATAAATATATATATTTATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AHRR_chr5_316714_443285	391341	G G	GGGCGCAG others(99): Show GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGG CGAGGCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0104 a0001c0009t0055g0104	1	268	0.0037	106	c.351 others(125): Show c.351+14656_351+14657insCGGGGGCAGGGCGAGGCGGGCGCAGG GCGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391694	T T	TGAGGCAG others(99): Show TGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGC GCAGGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02071.hp1 HG02074.hp1 others(4): Show HG01109.hp2 HG02071.hp1 HG02074.hp1 HG03831.hp2 NA18947.hp2 NA18975.hp1 NA19012.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0015 a0001c0001 a0002c0002 a0007c0015	a0001c0001t0003 a0001c0001t0057 a0002c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0057 a0002c0002t0001 a0007c0015t0003	a0001c0001t0003g0087 a0001c0001t0003g0129 a0001c0001t0057g0251 others(4): Show a0001c0001t0003g0087 a0001c0001t0003g0129 a0001c0001t0057g0251 a0002c0002t0001g0048 a0002c0002t0001g0091 a0002c0002t0001g0135 a0007c0015t0003g0070	7	268	0.0261	106	c.351 others(125): Show c.351+14999_351+15000insCGAACACACGGGTGCAGGGCGAGGCA GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4735256	T T	TACATATA others(99): Show TACATATATAAATATATATATACATATATAAATATATATATACATATATA AATATATATATACATATATAAATATATATACATATATAAATATATATACA TATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19060.hp2 HG01891.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0064 a0001c0001t0002 a0001c0001t0064	a0001c0001t0002g0316 a0001c0001t0064g0017 a0001c0001t0002g0316 a0001c0001t0064g0017	2	462	0.0043	106	c.151 others(123): Show c.151+5680_151+5681insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATATTTATATATGTATATATATATTT ATATATGTATATATATATTTATATATGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735334	T T	TATATATA others(99): Show TATATATACATATATAAATATATATACATATATAAATATATATACATATA TAAATATATATACATATATAAATATATATACATATATAAATATATATACA TATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG00099.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0058 a0001c0001t0015 a0001c0001t0058	a0001c0001t0015g0183 a0001c0001t0058g0414 a0001c0001t0015g0183 a0001c0001t0058g0414	2	462	0.0043	106	c.151 others(123): Show c.151+5602_151+5603insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATTTATAT ATGTATATATATTTATATATGTATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK5_chr1_77277019_77564966	77367838	T T	TATATATT others(99): Show TATATATTATATATAATATATGTTATATATTATATATAATATATGTTATA TATTATATATAATATATGTTATATATTATATATAATATATGTTATATATT ATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18953.hp2 NA18947.hp1 NA18953.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0027 a0001c0001t0003 a0002c0002t0027	a0001c0001t0003g0166 a0002c0002t0027g0175 a0001c0001t0003g0166 a0002c0002t0027g0175	2	284	0.0070	106	c.891 others(125): Show c.891+27276_891+27277insTATATATAATATATGTTATATATTAT ATATAATATATGTTATATATTATATATAATATATGTTATATATTATATAT AATATATGTTATATATTATATATAATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALDH16A1_chr19_49448225_49476050	49461541	G G	GAGTCTGG others(99): Show GAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCCGGATTCCT GGGTCTGAGGGAGGAGGGGCTGGGGCCTGGATTCCTGGGTCTGAGGGAGG AGGGGCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0055 a0002c0003t0001g0055	1	342	0.0029	106	c.578 others(119): Show c.578-78_578-77insAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGATT CCTGGGTCTGAGGGAGGAGGGGCT	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16			chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49463237	G G	GGAGTCTG others(99): Show GGAGTCTGGACTCCTGGGTCTGAAGGAGGAGGGGCTGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGTGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGTGCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0169	1	342	0.0029	106	c.109 others(123): Show c.1098+483_1098+484insAGTCTGGACTCCTGGGTCTGAAGGAGGA GGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGTGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH3B2_chr11_67657155_67679623	67668755	G G	GCTGTGTG others(99): Show GCTGTGTGTCTTTGTGTGTATGGGTGTCTGTGTGTGTCTGTGTATGTATG GGTGCTGTGTGTCTTTGTGTGTATGGGTGTCTGTGTGTGTCTGTGTATGT ATGGGTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	390	0.0026	106	c.-24 others(125): Show c.-244-1121_-244-1120insTACCCATACATACACAGACACACACA GACACCCATACACACAAAGACACACAGCACCCATACATACACAGACACAC ACAGACACCCATACACACAAAGACACACAG	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALK_chr2_29187774_29926586	29200760	T T	TGTATATA others(99): Show TGTATATATATACGTATATATATACGTATATATGTATATATATACGTATA TATATACGTATATATGTATATATATACGTATATATATACGTATATATGTA TATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0013 a0001c0039t0013	a0001c0039t0013g0079 a0001c0039t0013g0079	1	80	0.0125	106	c.393 others(125): Show c.3939-3085_3939-3084insGTATATATACATATATACGTATATAT ATACGTATATATATACATATATACGTATATATATACGTATATATATACAT ATATACGTATATATATACGTATATATATAC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALPG_chr2_232401844_232415714	232414710	C C	CAAACCCC others(99): Show CAAACCCCCCCCCACATACAGCCAGGTTTATACACGGATGCTCCAGCGCA CCGATAGACTGAGCCAGGCAGAATGACATGAGGGAGCTTGAGTGGGAAGC ACATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0001 a0003c0002t0001g0001	1	434	0.0023	106	c.48 others(117): Show c.4838_*4839insAAACCCCCCCCCACATACAGCCAGGTTTATACAC GGATGCTCCAGCGCACCGATAGACTGAGCCAGGCAGAATGACATGAGGGA GCTTGAGTGGGAAGCACATGCA	ALPG	ENSG00000163286.9	transcript	ENST00000295453.8	protein_coding		3997		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764800	T T	TTTTATAT others(99): Show TTTTATATATATATATATATATATATATATATATATATATATATATATGT ATATATATATATATGTATATGTATATATATATATATGTATATATATATAT ATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0036 a0004c0036	a0004c0036t0007 a0004c0036t0007	a0004c0036t0007g0253 a0004c0036t0007g0253	1	370	0.0027	106	c.44 others(117): Show c.4490_*4491insCATATATATATATATATATACATATATATATATA TACATATACATATATATATATATACATATATATATATATATATATATATA TATATATATATATATATATAAA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2839		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764849	T T	TACACATA others(99): Show TACACATATATATATACACGTATATATATACGTATATATATATACGTGTA TATATATGTGTATATATATATACGTATATATATACGTATATATATACATA TATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0192 a0001c0002t0002g0192	1	370	0.0027	106	c.44 others(117): Show c.4441_*4442insGTATATATATGTATATATATACGTATATATATAC GTATATATATATACACATATATATACACGTATATATATATACGTATATAT ATACGTGTATATATATATGTGT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2790		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764865	C C	CACGTATA others(99): Show CACGTATATATATACGTATATATATATACGTATATATATACGTATATATA TACGTATATATATATATATATATACGTGTATATATACGTATATATATACG TGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0144 a0001c0007t0002g0144	1	370	0.0027	106	c.44 others(117): Show c.4425_*4426insATATACACGTATATATATACGTATATATACACGT ATATATATATATATATATACGTATATATATACGTATATATATACGTATAT ATATATACGTATATATATACGT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2774		chr2	TogoVar
ANK3_chr10_60021298_60394875	60226524	T T	TATAGTAT others(99): Show TATAGTATATATACATAGTATATATACATAGTATATATACATAGTATATA TACTATAGTATATATACATAGTATATATACTATAGTATATATACATAGTA TATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0053 a0001c0001t0007g0054	2	192	0.0104	106	c.897 others(123): Show c.897+8163_897+8164insGTATATATACTATGTATATATACTATAG TATATATACTATGTATATATACTATAGTATATATACTATGTATATATACT ATGTATATATACTATGTATATATACTAT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	8/43			chr10	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGTAT others(99): Show ATATGTATACTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATATC AGTATTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0146 a0003c0003t0001g0146	1	350	0.0029	106	c.181 others(123): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATATG TTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGT ATATCATATAGCACATATAGTATACATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGTAT others(99): Show ATATGTATACTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAGCATATTTTTATATAAAATATC AGTATTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02451.hp2 HG02615.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0049 a0003c0003t0001g0187 a0001c0001t0001g0049 a0003c0003t0001g0187	2	350	0.0057	106	c.181 others(123): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATATG CTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGT ATATCATATAGCACATATAGTATACATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGTAT others(99): Show ATATGTATACTATATGTGCTATGTGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAGCATATTTTTATATAAAATATC AGTATTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	350	0.0029	106	c.181 others(123): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATATG CTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGT ATATCACATAGCACATATAGTATACATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759595	A A	ACATATTT others(99): Show ACATATTTTTATATAAAATATCAGTATTTTATGTATACTATATGTGCTAT ATGATATACACGTATCATATGCCATGATATACGTATATTATACATCATAT ATAAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0130 a0001c0010t0002g0130	1	350	0.0029	106	c.181 others(123): Show c.181+2022_181+2023insCTTTTATATATGATGTATAATATACGTA TATCATGGCATATGATACGTGTATATCATATAGCACATATAGTATACATA AAATACTGATATTTTATATAAAAATATG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANXA6_chr5_151095706_151162779	151140577	A A	AATATATA others(99): Show AATATATATATAAATATATATATAAATATATATATATATATATATATATT TATATATATATATATATTTATATATATATATATATATATTTATATATATA TATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	408	0.0025	106	c.19- others(119): Show c.19-335_19-334insATATATATATATATATAAATATATATATATAT ATATATAAATATATATATATATATAAATATATATATATATATATATATAT TTATATATATATTTATATATATAT	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	2/25			chr5	TogoVar

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