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
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(381): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03486.hp1 HG02735.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0035 a0001c0007 a0002c0035	a0001c0007t0001 a0002c0035t0006 a0001c0007t0001 a0002c0035t0006	a0001c0007t0001g0048 a0002c0035t0006g0031 a0001c0007t0001g0048 a0002c0035t0006g0031	2	194	0.0103	388	c.165 others(405): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401425	A A	ACCCGCCC others(381): Show ACCCGCCCCGCTCACACCCGGCCCCCGCTCACACCCGACCCGCTCACCCC CGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCAC ACCGGCCCCGCTCACACCCCGCCCCGCTCACACCGGCCCCAGCTCACAAC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCCCGCTCACCCCCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	193	0.0052	388	c.44 others(399): Show c.4470_*4471insGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGA GCGGGGCGGGTGTGAGCGGGGCCGGGGGGTGAGCGGGGGCCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGTTGTGAGCTGGGGCCGGTGTGAGCGGGGCGGGGTGTGAGCGGGG CCGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGG GGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGT GAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCG GGGCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGG CGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4290		chr11	TogoVar
SLC35F1_chr6_117902264_118322671	117923737	A A	ATACATAT others(381): Show ATACATATATGTACATATGTACATATATACATATGTACATATATACATAT GTACATATACATATATGTACATATATACATATGTATATATACATATATGT ACATATGTACATATATACATATGTATATATATACATATGTATATATACAT ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATACATATGTACATATACACATATACATATGTAT ATATACATATATGTACACATACATATGTATATGTACATATGTACATATAT GTATATACACATATGTATATATACATATATGTATATATACATATGTATAT ATACATATATGTACATATGTACATATACATATGTATGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0155 a0001c0001t0025g0155	1	163	0.0061	388	c.173 others(407): Show c.173+15855_173+15856insGTACATATATACATATGTACATATAT ACATATGTACATATACATATATGTACATATATACATATGTATATATACAT ATATGTACATATGTACATATATACATATGTATATATATACATATGTATAT ATACATATATGTACATATGTACATATATACATATGTATATATACATATAT GTACATATGTACATATATACATATACATATGTACATATACACATATACAT ATGTATATATACATATATGTACACATACATATGTATATGTACATATGTAC ATATATGTATATACACATATGTATATATACATATATGTATATATACATAT GTATATATACATATATGTACATATGTACATATACATATGTATGTGTACAT ATATGTACATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	A A	ATATATAC others(381): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACAGGTACACATGCATATGTATATACACACATAGGTACAC ATGCATATGTATATACACACATAGGTACACATGCATATGTATATACACAC ATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGT ATATACACACATAGGTACACATGCATATGTATATACACACATAGGTACAC ATGCATATGTATATACACACATAGGTACACATGCATATG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	81	0.0123	388	c.173 others(407): Show c.173+16406_173+16407insGGTACACATGCATATGTATATACACA CATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATG TATATACACACATAGGTACACATGCATATGTATATACACACATAGGTACA CATGCATATGTATATACACACATAGGTACACATGCATATGTATATACACA CATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATG TATATACACACATAGGTACACATGCATATGTATATACACACATAGGTACA CATGCATATGTATATACACACATAGGTACACATGCATATGTATATACACA CATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATG TATATACACACA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(381): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TTATATATAATATAAATATATTATATATATTATATATAAATATAAATATA TTATATATATTATATATAAATATAAATATATTATATATTATATAAATATA AATATATTATATATTATATAAATATAAATATATTATATATTATATATAAA TATAAATATATTATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTAATATATTATATATAATATAAATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19070.hp2 NA19079.hp1 NA18974.hp1 NA19070.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0256 a0002c0002t0002g0254 a0002c0002t0002g0258 a0002c0002t0001g0256 a0002c0002t0002g0254 a0002c0002t0002g0258	3	134	0.0224	388	c.-70 others(405): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA ATATATTTATATTTATATATAATATATAATATATTTATATTTATATAATA TATAATATATTTATATTTATATAATATATAATATATTTATATTTATATAT AATATATATAATATATTTATATTTATATATAATATATATAATATATTTAT ATTATATATAATATATAATATATTTATATTTATGTATAATATATATAATA TATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(381): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATATATATTATAA AATATAATATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	7	0.1429	388	c.17 others(407): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATATTATATATTAT AATATATAATATATATTATATATTATAAAATATAATATATATTACATATT ATAAAATATAATATATTATATATTATAAAATATAATATATATTACATATT ATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAATATATAATATATTATATATTATAA TATATAATATATATTATATATTATAATATATAATATATATTATATATTAT AATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246009972	G G	GCCCAGCT others(381): Show GCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTGACCTCATGATCTGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCAAGATCATGTTT ATATAAAGTTTGTTATAAAGTTCTCTTGGTATTATCCCCAATAACAAAAA CTTTAAGAAAAAAAAACAGTATTTTTGGCCGGGCACAGTGGCTCATGCCT ATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAACTCAG GAGTTCAAGACCAGCCTAGGCAACATGGTGAAATCCATCTCTACTAAAAA TACAAAAATTAGCCGGGCATGGTGGCACACGGCTGTAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01934.hp2 HG02015.hp1 others(7): Show HG00621.hp1 HG01934.hp2 HG02015.hp1 HG02071.hp2 HG02165.hp1 HG03491.hp1 HG03831.hp2 NA18747.hp1 NA19000.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0035 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0002g0004 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0002t0001g0034	10	78	0.1282	388	c.532 others(407): Show c.532-80036_532-80035insATTACAGCCGTGTGCCACCATGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGATTTCACCATGTTGCCTAGGC TGGTCTTGAACTCCTGAGTTCAAATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCAAAAATACTGTTT TTTTTTCTTAAAGTTTTTGTTATTGGGGATAATACCAAGAGAACTTTATA ACAAACTTTATATAAACATGATCTTGGCCGGGCACAGTGGTTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGTTC AAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAA AAATTAGCTGGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246232860	C C	CTCAATTC others(381): Show CTCAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCT CAATTCACACTGTGATGAACATATACCACACAGGGGAGAAGCGCTCCTCA ATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAAT TCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAATTC ACACTGTGATGAACATATACCACGCAGAGGAGAAGCGCTCCTTCAATTCA CACTGTGATGAACATATACCACACAGGGGAGAAGCACTCCTTCAATTCAC ACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATCCACA CTGTGATGAACATATTCCACACAGAGGAGAAGCACTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	83	0.0120	388	c.531 others(407): Show c.531+94340_531+94341insAGGAGTGCTTCTCCTCTGTGTGGAAT ATGTTCATCACAGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATA TGTTCATCACAGTGTGAATTGAAGGAGTGCTTCTCCCCTGTGTGGTATAT GTTCATCACAGTGTGAATTGAAGGAGCGCTTCTCCTCTGCGTGGTATATG TTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTT CATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCA TCACAGTGTGAATTGAGGAGCGCTTCTCCCCTGTGTGGTATATGTTCATC ACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCAC AGTGTGAATTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965130	A A	ACCCCAAT others(381): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGACCCCAATCCTC CTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCC CAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTC CTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02683.hp1 HG02738.hp1 others(1): Show HG01361.hp2 HG02683.hp1 HG02738.hp1 NA18990.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0008 a0008c0011 a0001c0001 a0003c0008 a0008c0011	a0001c0001t0001 a0003c0008t0001 a0008c0011t0001 a0001c0001t0001 a0003c0008t0001 a0008c0011t0001	a0001c0001t0001g0012 a0001c0001t0001g0035 a0003c0008t0001g0011 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0035 a0003c0008t0001g0011 a0008c0011t0001g0004	4	179	0.0223	388	c.72+ others(405): Show c.72+14097_72+14098insGGACCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATC CTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(381): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAA TCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTG GCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCC TCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCTGGACTC CAGTTCTCCTCCTTGGACCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0146 a0009c0012t0001g0146	1	60	0.0167	388	c.72+ others(405): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAATC CTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTC CCCAGTCCTCCTCTGGACTCCAGTTCTCCTCCTTGGACCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCAGT CCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965324	A A	ACCCCAAT others(381): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	185	0.0054	388	c.72+ others(405): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPNS3_chr17_4428940_4493204	4462558	C C	CACCCATC others(381): Show CACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAATCCATCCA CCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACCCACC AATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCACCAG TCTATCAATCCATCTATCCATCCATCCACCAATCCATCCATCCATCCATC CATCCATCCATCCACCAGTCTATCAATCCATCTATCCATCCATCCACCAA TCCATCCATCCATCCATCCATCCACCCATCCACCAATCCATCCATCCACC AATCCATCCATCTACCCACCCACCAATCCATCCATCCATCCATCCATCCA CCCACCCACCCACCCACCCACCCATTCATCCACCAATCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0287 a0002c0011t0003g0287	1	177	0.0056	388	c.111 others(407): Show c.1113+9354_1113+9355insCCCATCCGCCAATCCATCCATCCATC CATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCATCCATCCA CCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCACCCACC CACCCACCCATCCATCCACCAGTCTATCAATCCATCTATCCATCCATCCA CCAATCCATCCATCCATCCATCCATCCATCCATCCACCAGTCTATCAATC CATCTATCCATCCATCCACCAATCCATCCATCCATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCATCTACCCACCCACCAATC CATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATTCA TCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SRXN1_chr20_641615_658200	641971	G G	GGGGGGGG others(381): Show GGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGG TTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	400	0.0025	388	c.67 others(399): Show c.6742_*6743insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4643		chr20	TogoVar
SRXN1_chr20_641615_658200	641971	G G	GGGGGGGG others(381): Show GGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGG TTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0038 a0001c0001t0013g0038	1	400	0.0025	388	c.67 others(399): Show c.6742_*6743insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4643		chr20	TogoVar
SRXN1_chr20_641615_658200	642199	G G	GGGGGGGC others(381): Show GGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	411	0.0024	388	c.65 others(399): Show c.6514_*6515insACAGGCAACTCCACCCCCGCTGGGCCCCCCACCA CAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCC AGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTG GGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4415		chr20	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(381): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03710.hp2 HG01884.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0119 a0001c0001t0019g0144 a0001c0001t0001g0119 a0001c0001t0019g0144	2	72	0.0278	388	c.262 others(407): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(381): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT GTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCT CCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01981.hp2 HG02004.hp2 HG01123.hp1 HG01981.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0133	3	73	0.0411	388	c.262 others(407): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTGTCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(381): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0129 a0001c0001t0022g0129	1	2	0.5000	388	c.262 others(407): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(381): Show TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATATTATATATTATATAACATATATTATATA TATATATTATATATTATATAACTATATATTATATATATATATTATATATT ATATAACTATATATTATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACATATA TTATATATAATATATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0226	1	149	0.0067	388	c.73 others(399): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACATATATTATATATATATATTATATATTATATAACTATATATTATATA TATATATTATATATTATATAACTATATATTATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACATATATTATATATAATATATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(381): Show GATTATAAAATATAATCATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATAAGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTTATATATTATATATGATATAAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	9	0.1111	388	c.75 others(399): Show c.7501_*7502insATTATAAAATATAATCATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATAAGATTATAAAATAT AATTATATATTATATATGATTATAAAATATAATTTATATATTATATATGA TATAAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAAATATAATTATATATGATTATAAAATATAATT ATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(381): Show GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 NA18522.hp1 HG01081.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0081 a0001c0001t0005g0073 a0001c0001t0005g0081	2	10	0.2000	388	c.75 others(399): Show c.7501_*7502insATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(381): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG03654.hp1 others(2): Show HG02615.hp1 HG02895.hp1 HG03654.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0020 others(1): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0020 a0001c0001t0024	a0001c0001t0010g0137 a0001c0001t0013g0249 a0001c0001t0013g0250 others(2): Show a0001c0001t0010g0137 a0001c0001t0013g0249 a0001c0001t0013g0250 a0001c0001t0020g0122 a0001c0001t0024g0252	5	13	0.3846	388	c.75 others(399): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(381): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGAGGGGGGAGAGAGGGGGAGGGG GGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGG GAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGGAG AGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0216 a0001c0003t0003g0216	1	108	0.0093	388	c.-18 others(407): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC TCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCTCCCTCCCCCTCT CTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAFA5_chr22_48484553_48756932	48640940	T T	TCTGAAGC others(381): Show TCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGA ACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCT GAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACA GTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAA GCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTG GGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCT GAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGG GGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp1 HG02965.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0046 a0001c0001t0014g0145 a0001c0001t0002g0046 a0001c0001t0014g0145	2	235	0.0085	388	c.113 others(405): Show c.113-5575_113-5574insTGGGACAACTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGGGGC ACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGG GTCTGCCCTA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48641023	C C	CGGGACAG others(381): Show CGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCATGGCCCTTG TTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGG GACAACTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTG GGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGAC AGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGG CAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGC TTCTGCCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAG TGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0070 a0001c0001t0011g0070	1	181	0.0055	388	c.113 others(405): Show c.113-5561_113-5560insTCTGAAGCTGAGACCGTGGGGGCACCAT GGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTG CCCTATGGGACAACTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGC CCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCC TATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCT TGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTAT GGGACAGCTTCTGCCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGT TGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGG ACAGCTTCTG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48641037	C C	CCTGAAGC others(381): Show CCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGA ACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTACGGGACAGCTTCTGTCT GAAGCTGAGACCGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACA GTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAA GCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTG GGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCT GAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGG GGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	70	0.0143	388	c.113 others(405): Show c.113-5478_113-5477insCGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGC ACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGG GTCTGCCCTA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412135	C C	CATCCCTT others(381): Show CATCCCTTTCCCTTCCCATCCCTTTCCCTTCTCCTCCCCTTCCCCTCCCC TCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCTCCCCTCCC CTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTC CCCCTCCTCTCCCCTCCCCCTTCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCCCTCCCCCCCGTCCCCTCCTCTCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0239 a0001c0001t0015g0239	1	245	0.0041	388	c.186 others(405): Show c.186-2298_186-2297insATCCCTTTCCCTTCCCATCCCTTTCCCT TCTCCTCCCCTTCCCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTC CCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCC TCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTTCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCCCCGTCCCCTCCTCTC CCTCCCCCCT	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16			chr1	TogoVar
TERT_chr5_1248167_1300068	1272907	G G	GACCGCCA others(381): Show GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCAC ACATCAGACCCCCATGACCAACCACCATCTAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACATCAGACCCCACA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	365	0.0027	388	c.228 others(405): Show c.2287-628_2287-627insTGTGGGGTCTGATGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTAGATGGTGGTTGGTCATGG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377417	C C	CCTGTGCC others(381): Show CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0231 a0003c0003t0001g0231	1	139	0.0072	388	c.-14 others(399): Show c.-1448_-1447insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1392		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129088800	G G	GTGTCCTC others(381): Show GTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGCGTCCTCCATGACC GGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGTGTCCTCCCTG ACCGGGGTGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGGTGTCCTC TATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCC TCCCTGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTG TCCTCCATGACCGGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGG GTGTCCTCCCTGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACC GGGTGTCCTCCCTGACCGGGGTGTCCTCCCTGACCGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20752.hp2 HG02922.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0078 a0001c0001t0002g0027 a0001c0001t0002g0078	2	84	0.0238	388	c.144 others(407): Show c.1444-4099_1444-4098insTCCCGGTCAGGGAGGACACCCCGGTC AGGGAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCGG TCAGGGAGGACACCCCGGTCAGGGAGGACACCCGGTCAGGGAGGACACCC CGGTCATGGAGGACACCCCGGTCAGGGAGGACACCCGGTCATGGAGGACA CCCCGGTCAGGGAGGACACCCCGGTCAGGGAGGACACCCGGTCATGGAGG ACACCCGGTCATAGAGGACACCCCGGTCATGGAGGACGCCCCGGTCATGG AGGACACCCCGGTCAGGGAGGACACCCGGTCATGGAGGACGCCCCGGTCA TGGAGGACGCCCCGGTCATGGAGGACGCCCGGTCATGGAGGACACCCCGG TCATGGAGGACA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM65_chr8_124301189_124377701	124302609	T T	TCTTTTAT others(381): Show TCTTTTATTTATATATAAATATATATTCTTTTATATATTTATATATAAAT ATATATTCTTTTATTTATATATAAATATATATTCTTTTATATATTTATAT ATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTAT ATATTTATATATAAATATATATTCTTTTATATATTTATATATAAATATAT ATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTATAT ATAAATATATATTTTTATATATTTATATATAAATATATATTCTTTTATAT ATTTATATATATATTTATATATAAATATATATTCTTTTATATATTTATAT ATAAATATATATTCTTTTATATATTTATATATAAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	346	0.0029	388	c.11 others(401): Show c.11350_*11351insTATATTTATATATAAATATATAAAAGAATATA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATAAAAGAATATATATTTATATA TAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATATA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATAAAAG AATATATATTTATATATAAATATATAAAAGAATATATATTTATATATAAA TAAAAG	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3579		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(381): Show TTATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTA TTTTATATATTTATATATAAATATATTTTATATATTTATATATAAATATA TATTTTTATATATTTATATATAAATATATTTTATATATTTATATATAAAT ATATATTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATATATATTTATATATAAATATATATTCTTTTATATATTTATATATAAAT ATATATTCTTTTATATATTTATATATAAATATACTTTTATATATTTATAT ATAAATATACTTTTATATATTTATATATAAATATATATTCTTTTATATAT TTATATATAAATATATATTCTTTTATATATTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0178 a0001c0001t0056g0178	1	2	0.5000	388	c.11 others(401): Show c.11218_*11219insTATATATAAATATATAAAAGAATATATATTTA TATATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGTA TATTTATATATAAATATATAAAAGTATATTTATATATAAATATATAAAAG AATATATATTTATATATAAATATATAAAAGAATATATATTTATATATAAA TATATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AATATATATTTATATATAAATATATAAAATATATTTATATATAAATATAT AAAAATATATATTTATATATAAATATATAAAATATATTTATATATAAATA TATAAAATAATATATATTTATATATAAATATATAAAAGAATATATATTTA TATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMPRSS9_chr19_2355265_2431261	2377590	T T	TCCTCTCC others(381): Show TCCTCTCCCCTCCCCCCTCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT TCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTC CTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCC CCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCC TCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCC TCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCT CCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	77	0.0130	388	c.-25 others(407): Show c.-25-12167_-25-12166insTCCCCTCCCCCCTCTCCCCTCCCCTC TCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTC TCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCT CTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCC TCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCC TCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCC CTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCC TCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377590	T T	TCCTCTCC others(381): Show TCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTC TCTCTCCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCC TCCCCTCTCCTCCCCTCTCCCCTCTCCCTCTCTCCTCCCCTCTCCCTCCC CTCGCCCTTCCCCTCCCCTCGCCCTTCCCTCTTCCCTCCCCTCTCCCCTC TCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTC CTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCCCTCCCCTCT CCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	77	0.0130	388	c.-25 others(407): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTTCTCTCTCCCTCCCCTCCTCTCTCTTCCCCTCT CCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCCTCT CTCCTCCCCTCTCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCTC TTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTC TCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCT TCCCTCCCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCC TCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRIM28_chr19_58539064_58555715	58540882	G G	GACCCTGC others(381): Show GACCCTGCTTCCCTCCTCAGACAGGATTCTCACCCCACACACCCTGCTTC CCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGAC AGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATGCTCCC CACACACACCCTGCTTCCTTCCTCAGACAGGATTCTCCCCCCACACACCC TGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCC TCAGACAGGAAGCTCCCCCCACACACCCTGCTTCCCTCCTCATACAGGAT TCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAC AGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 NA19030.hp1 HG01109.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	2	389	0.0051	388	c.-38 others(399): Show c.-3876_-3875insACCCTGCTTCCCTCCTCAGACAGGATTCTCACCC CACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTG CTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCCTC AGACAGGATGCTCCCCACACACACCCTGCTTCCTTCCTCAGACAGGATTC TCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACAC ACCCTGCTTCCCTCCTCAGACAGGAAGCTCCCCCCACACACCCTGCTTCC CTCCTCATACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACA GGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACAGGATTCTCCCC CCAC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		3181		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58541458	C C	CCCACACA others(381): Show CCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCC TACTTCCCTCCTCAGACAGGATGCTCCCCCCACACACCCTGCTTCCCTCC TCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGAT TCTCCCCCCACACACCCTGCTTCCCTCCTCATACAGGATTCTCCCCACAC ACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACATCCTGCTT CCCTCCTCAGACAGGATTCTCCCTACACAGAACCTGCTTCCCTCCTCAGA CAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACATGATTCTTC TCACACACACCCTGCTTCCCTCAGACAGGATTCTCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	393	0.0025	388	c.-33 others(399): Show c.-3300_-3299insCCACACACCCTGCTTCCCTCCTCAGACAGGATTC TCCCCACACAGACCCTACTTCCCTCCTCAGACAGGATGCTCCCCCCACAC ACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCC CTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCATACA GGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCC CCACACATCCTGCTTCCCTCCTCAGACAGGATTCTCCCTACACAGAACCT GCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCT CAGACATGATTCTTCTCACACACACCCTGCTTCCCTCAGACAGGATTCTC CCCA	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		2605		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58541463	C C	CACCCTGC others(381): Show CACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTACTTC CCTCCTCAGACAGGATGCTCCCCCCACACACCCTGCTTCCCTCCTCAGAC AGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCC CCCACACACCCTGCTTCCCTCCTCATACAGGATTCTCCCCACACACACCC TGCTTCCCTCCTCAGACAGGATTCTCCCCCCCACACATCCTGCTTCCCTC CTCAGACAGGATTCTCCCTACACAGAACCTGCTTCCCTCCTCAGACAGGA TTCTCCCCACACACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACA CACACCCTGCTTCCCTCAGACAGGATTCTCCCCACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	17	0.0588	388	c.-32 others(399): Show c.-3295_-3294insACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCA CACAGACCCTACTTCCCTCCTCAGACAGGATGCTCCCCCCACACACCCTG CTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCCTC AGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCATACAGGATTC TCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCCACA CATCCTGCTTCCCTCCTCAGACAGGATTCTCCCTACACAGAACCTGCTTC CCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGAC ATGATTCTTCTCACACACACCCTGCTTCCCTCAGACAGGATTCTCCCCAC ACAG	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		2600		chr19	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(381): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0174	1	8	0.1250	388	c.657 others(403): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCC TTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(381): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCC CCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCC CCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0002 a0018c0022t0002	a0018c0022t0002g0236 a0018c0022t0002g0236	1	8	0.1250	388	c.657 others(403): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCC TTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(381): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATATATTATTATATATAATATAATATATATTA TTATATATTATTATATATAATATAATATATATTATTATATATTATTATAT ATAATAATATATAATATATATTATTATATATTATTATATATAATAATATA ATATATATTATTATATATAATAATATAATATATATTATTATATATTATTA TATATAATATAATATATATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	11	0.0909	388	c.392 others(405): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATTATATATA ATAATATATAATAATATATATTATATTATATATAATAATATATAATATAT ATTATATTATATATAATAATATATAATAATATATATTATATTATATATAA TAATATATAATAATATATATTATATTATATATAATAATATATAATAATAT ATATTATATTATTATATATAATAATATATAATAATATATATTATATTATT ATATATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGAGGCT others(381): Show CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTG TGGGACGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAG GCTGTGGGACGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGCTCGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGCTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0027 a0002c0011t0004g0027	1	74	0.0135	388	c.218 others(405): Show c.2182+158_2182+159insGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGATGGGGCTCGAGGCTGTGGGACGGGGGTTGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTTGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTTG GAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7678849	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03516.hp2 HG01168.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0009 a0001c0001t0014	a0001c0001t0009g0194 a0001c0001t0014g0017 a0001c0001t0009g0194 a0001c0001t0014g0017	2	245	0.0082	388	c.82+ others(403): Show c.82+5401_82+5402insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678876	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01928.hp2 HG02630.hp1 others(4): Show HG01496.hp2 HG01928.hp2 HG02630.hp1 HG02809.hp1 HG02965.hp1 HG03225.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0068 a0001c0001t0075	a0001c0001t0001g0053 a0001c0001t0007g0222 a0001c0001t0014g0009 others(4): Show a0001c0001t0001g0053 a0001c0001t0007g0222 a0001c0001t0014g0009 a0001c0001t0019g0081 a0001c0001t0021g0042 a0001c0001t0068g0139 a0001c0001t0075g0016	7	231	0.0303	388	c.82+ others(403): Show c.82+5428_82+5429insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678876	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	225	0.0044	388	c.82+ others(403): Show c.82+5428_82+5429insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAGTTTA TAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678880	A A	AATATATA others(381): Show AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	238	0.0042	388	c.82+ others(403): Show c.82+5428_82+5429insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678984	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02004.hp1 others(8): Show HG01167.hp2 HG01169.hp1 HG02004.hp1 HG02451.hp1 HG02602.hp2 HG02698.hp2 HG03041.hp2 HG03098.hp1 HG03486.hp2 HG03669.hp2 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 others(7): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0037 a0001c0001t0043 a0001c0002t0002 a0002c0003t0081	a0001c0001t0002g0032 a0001c0001t0002g0060 a0001c0001t0009g0022 others(8): Show a0001c0001t0002g0032 a0001c0001t0002g0060 a0001c0001t0009g0022 a0001c0001t0012g0108 a0001c0001t0020g0030 a0001c0001t0021g0006 a0001c0001t0027g0221 a0001c0001t0037g0220 a0001c0001t0043g0144 a0001c0002t0002g0007 a0002c0003t0081g0072	11	208	0.0529	388	c.82+ others(403): Show c.82+5536_82+5537insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679011	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01496.hp1 others(3): Show HG00438.hp1 HG00558.hp1 HG01496.hp1 HG02148.hp1 HG02148.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0056	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0005g0035 others(3): Show a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0005g0035 a0001c0001t0005g0052 a0001c0001t0008g0063 a0001c0001t0056g0064	6	188	0.0319	388	c.82+ others(403): Show c.82+5563_82+5564insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679038	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18975.hp1 HG01261.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0034 a0001c0001t0008g0069 a0001c0001t0007g0034 a0001c0001t0008g0069	2	160	0.0125	388	c.82+ others(403): Show c.82+5590_82+5591insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679065	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA20129.hp2 HG02622.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0062 a0001c0001t0040 a0001c0001t0062	a0001c0001t0040g0224 a0001c0001t0062g0223 a0001c0001t0040g0224 a0001c0001t0062g0223	2	142	0.0141	388	c.82+ others(403): Show c.82+5617_82+5618insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679065	T T	TATAAATA others(381): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	141	0.0071	388	c.82+ others(403): Show c.82+5617_82+5618insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTA TAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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