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
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(353): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCC ACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC CCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCC ACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	320	0.0031	360	c.39 others(371): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGG TGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DLGAP2_chr8_732628_1713476	802020	C C	CCCTCCTG others(353): Show CCCTCCTGGGTCCTCCGTCCTCACAGCCTGAGGAGCAGTCCGCACCCCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCCGCACCCCTCCTGGG CCCTCCGTCCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTC CATCCTCATGGCCTGGGGAATGGTCTGCACTCCTCCTGGGCCCTCCGTCC TCACGGCCTGGGGAACGATCTGCACCCCTCCTGGGCCCTCCATCCTCACG GCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTG GGGAACGGTCCGCACCCCTCCTGGGCCCTCCATCCTCATGGCCTGGGGAA TGGTCTGCACT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	40	0.0250	360	c.18+ others(377): Show c.18+64204_18+64205insTCCTCCGTCCTCACAGCCTGAGGAGCAG TCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCCGC ACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCTGCACCCC TCCTGGGCCCTCCATCCTCATGGCCTGGGGAATGGTCTGCACTCCTCCTG GGCCCTCCGTCCTCACGGCCTGGGGAACGATCTGCACCCCTCCTGGGCCC TCCATCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGT CCTCACGGCCTGGGGAACGGTCCGCACCCCTCCTGGGCCCTCCATCCTCA TGGCCTGGGGAATGGTCTGCACTCCTCCTGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1215405	A A	AGGGTGCA others(353): Show AGGGTGCATCACCTGGAGACGTCCAGGTACCTGGATGGGTTCATTTGGGT GCATCACCTGGAGACGTCCAGGTACCTGGATGGGTTCATTTGGGTGCATC ACCTGGAGACGTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTG GAGACGTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGAC GTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCA GGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCAGGTAC CTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCAGGTACCTGGA TGGGTTCATTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	360	c.74- others(377): Show c.74-43414_74-43055dupGGATGGGTTCATTTGGGTGCATCACCTG GAGACGTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGAC GTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCA GGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCAGGTAC CTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCAGGTACCTGGA TGGGTTCATTTGGGTGCATCACCTGGAGACGTCCAGGTACCTGGATGGGT TCATTTGGGTGCATCACCTGGAGACGTCCAGGTACCTGGATGGGTTCATT TGGGTGCATCACCTGGAGACGTCCAGGTACCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNM2_chr19_10713079_10836903	10758371	C C	CTCCTTCC others(353): Show CTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCT CCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCC TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG03041.hp1 HG02559.hp2 HG02630.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0191 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0191	3	278	0.0108	360	c.162 others(377): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(353): Show TTATTGTTACCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	212	0.0047	360	c.162 others(373): Show c.162+29_162+30insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOT1L_chr19_2158933_2237578	2201141	A A	ATTCCTCG others(353): Show ATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCTGCATTCCTCGTCCTCC CCTCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTC CTCCCCTCATTCCTCATCTTCCCTGTATTCCTCTTCCTCCCCGCATTCTT CATCCTCCCCTCATTCCTCGTCCTCCCCGTATTCCTCATCCTCCCCGCAT TCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCC TCATTCCTCGTCGTCCCCTCATTCCTCGTCCTCCCCGCATTCCTCGTCCT CCCCGCATTCCTCGTCCTCCCTGCATTCCTCGTCCTCCCTGCATTCCTCG TCGTCCCCTCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0024 a0013c0022t0024	a0013c0022t0024g0311 a0013c0022t0024g0311	1	378	0.0027	360	c.707 others(377): Show c.707+1217_707+1218insGCATTCCTCGTCCTCCCTGCATTCCTCG TCCTCCCCTCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCGCATTC CTCGTCCTCCCCTCATTCCTCATCTTCCCTGTATTCCTCTTCCTCCCCGC ATTCTTCATCCTCCCCTCATTCCTCGTCCTCCCCGTATTCCTCATCCTCC CCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTC CTCCCCTCATTCCTCGTCGTCCCCTCATTCCTCGTCCTCCCCGCATTCCT CGTCCTCCCCGCATTCCTCGTCCTCCCTGCATTCCTCGTCCTCCCTGCAT TCCTCGTCGTCCCCTCGTTCCTCGTCCTCCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPP8_chr15_65437467_65522689	65494012	C C	CCTAACAA others(353): Show CCTAACAACCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGG GGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAA ACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCT TCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGAC TCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTG CACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGA GAGCACAGGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18906.hp2 NA19030.hp1 HG02630.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0021 a0001c0003t0005g0024 a0001c0003t0005g0028 a0001c0003t0005g0021 a0001c0003t0005g0024 a0001c0003t0005g0028	3	336	0.0089	360	c.716 others(377): Show c.716-3714_716-3713insACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAACATAGGGTTGTTAG	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(353): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATACTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGTAT ATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTAT ATATATATAGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02735.hp2 HG01257.hp1 HG01258.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0130 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0003g0130 a0001c0001t0005g0135 a0001c0001t0005g0136	3	316	0.0095	360	c.355 others(379): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATATA TATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATATA TAGTATATATAGTATATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(353): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGTAT ATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTAT ATATATATAGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	316	0.0032	360	c.355 others(379): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATATA TATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATATA TAGTATATATAGTATATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAG others(353): Show ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATACTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGTAT ATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTAT ATATATATAGT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0096 a0001c0002t0004g0096	1	316	0.0032	360	c.355 others(379): Show c.355-25704_355-25703insTATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATATA TATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATATA TAGTATATATAGTATATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(353): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGA GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGAGGTGGT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18994.hp2 NA18998.hp2 others(1): Show NA18984.hp2 NA18994.hp2 NA18998.hp2 NA19010.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0002 a0001c0004 a0003c0002	a0001c0004t0003 a0003c0002t0003 a0001c0004t0003 a0003c0002t0003	a0001c0004t0003g0049 a0003c0002t0003g0159 a0003c0002t0003g0169 others(1): Show a0001c0004t0003g0049 a0003c0002t0003g0159 a0003c0002t0003g0169 a0003c0002t0003g0208	4	288	0.0139	360	c.190 others(379): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109689	C C	CCTCCCTC others(353): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCC GTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCGTGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCA CCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGTCCCCGTGT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0315 a0001c0003t0002g0315	1	404	0.0025	360	c.197 others(377): Show c.1977-322_1977-321insCCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCGTGTCTCCCTCC TCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCC ACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTC CCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACC CTGTCCCCGTGTCTCCCTCCCTCTCCACCCTG	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EYA4_chr6_133236357_133537128	133486332	A A	ATAAGGCC others(353): Show ATAAGGCCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCTGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0130 a0002c0002t0014g0130	1	264	0.0038	360	c.119 others(379): Show c.1191+3230_1191+3231insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCTAAGGCCCATCTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
FCN1_chr9_134898232_134922912	134920327	C C	CAAAACTA others(353): Show CAAAACTATCAAATAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0274 a0001c0003t0274	a0001c0003t0274g0327 a0001c0003t0274g0327	1	434	0.0023	360	c.-24 others(371): Show c.-2457_-2456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTCCTATTTGATAGTTTT	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding		2416		chr9	TogoVar
FLACC1_chr2_201283271_201362345	201284702	G G	GGGAGAGG others(353): Show GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGAGACGGGGAGAGGGAGAGGG AGAGGGAGACGGGAGACGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGG GGAGAGGAGCGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGGAGACGAGAGGGAGAG GGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	370	0.0027	360	c.39 others(371): Show c.3952_*3953insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCCTCTC CCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCG CCTCCCTCTCCCTCTCCGCTCCTCTCCCCGTCTCCCTCTCCCTCTCCCTC TCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTC CCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTC TCCCTCTCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3568		chr2	TogoVar
FLT3_chr13_27998274_28105576	27998762	T T	TTATATGT others(353): Show TTATATGTATATAAATATATATATTTATATGTATATAAATATATATATTT ATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATAT GTATATAAATATATATATTTATATGTATATAAATATATATATTTATATGT ATATAAATATATATATTTATATATAAATATATATATTTGTATATAAATAT ATATATTTATATATAAATATATGTTATATATATTTATATATAAATATGTT ATATATATTTATATATAAATATATGTTATATATATTTATATATAAATATA TGTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0261 a0003c0010t0001g0261	1	292	0.0034	360	c.52 others(371): Show c.5289_*5290insTATATATAACATATATTTATATATAAATATATAT AACATATATTTATATATAAATATATATAACATATTTATATATAAATATAT ATAACATATATTTATATATAAATATATATATTTATATACAAATATATATA TTTATATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATATTTATATACATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4511		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(353): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATTTACATACATATAAATATATATTTACATA CATATAAATATATATATTTATATACATATAATACATATACATATATACAT ATAAATATATATTTATATACATATAAATATATATATATTTATATACATAT AAATATATATATATTTATATACATATAAATATATATATATTTATATATAT ATATTTATATACATATAAATATATAATTATATACATATAAATATATATAA TTATATACATATAAATATATATTTATATACATATAAATATATATTTATAT ACATATAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 NA18906.hp1 HG02109.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0185 a0003c0003t0001g0188 a0003c0003t0001g0185 a0003c0003t0001g0188	2	292	0.0069	360	c.49 others(371): Show c.4960_*4961insAATTTATATGTATATAAATATATATTTATATGTA TATAAATATATATTTATATGTATATAATTATATATATTTATATGTATATA ATTATATATTTATATGTATATAAATATATATATATAAATATATATATATT TATATGTATATAAATATATATATATTTATATGTATATAAATATATATATA TTTATATGTATATAAATATATATTTATATGTATATATGTATATGTATTAT ATGTATATAAATATATATATTTATATGTATGTAAATATATATTTATATGT ATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATAT AATATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71435561	A A	AGGGACGG others(353): Show AGGGACGGAGGGAGGGCGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAG GGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGAC GGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0092	1	96	0.0104	360	c.-16 others(381): Show c.-168+57864_-168+57865insCCCTCCCCTCCGTCCCTTCTTCCC TCCCTCCGTCCCTTCTTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTC CGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCC TCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTC CGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCT TCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTC CGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCT TCCCTCCCTCCGTCCCTCCCGCCCTCCCTCCGTCCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FTCD_chr21_46131779_46160579	46134509	G G	GAGGGTCA others(353): Show GAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGTTTAGG GTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGT GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGG GTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGAGGGT GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTCA GGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	230	0.0044	360	c.24 others(371): Show c.2477_*2478insGACCCTAAACCTGACCCTCACCCTCACCCTAAAC CTGACCCTCACCCTCACCCTCACCCTCACCCTCACCCTGACCCTGACCCT GACCCTCACCCTAAACCTGACCCTCACCCTGACCCTGACCCTGACCCTAA ACCTGACCCTGACCCTGACCCTAAACCTGACCCTGACCCTGACCCTGACC CTAAACCTGACCCTCACCCTCACCCTCACCCTCACCCTCACCCTCACCCT GACCCTAAACCTGACCCTCACCCTGACCCTAAACCTGACCCTGACCCTGA CCCTCACCCTAAACCTGACCCTCACCCTAAACCTGACCCTCACCCTAAAC CTGACCCTCACCCTAAACCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2269		chr21	TogoVar
GALNS_chr16_88808734_88861947	88831495	A A	AGGAGAGC others(353): Show AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGA GCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAG CACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGG GGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTG AGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGG GTGCGTGGGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0041 a0001c0018t0002g0041	1	404	0.0025	360	c.100 others(377): Show c.1002+502_1002+503insCCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCA CGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTC GGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCT CCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831547	C C	CGAGCACG others(353): Show CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGA GCGGTGAGGCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18966.hp1 NA19081.hp2 HG00423.hp2 NA18966.hp1 NA19081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0046 a0001c0004t0001g0241 a0001c0004t0001g0034 a0001c0004t0001g0046 a0001c0004t0001g0241	3	404	0.0074	360	c.100 others(377): Show c.1002+450_1002+451insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTGTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGC TCCGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCT GTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCA CCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831558	T T	TGCGTGGG others(353): Show TGCGTGGGGAGGACAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGT GAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGG GGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGG AGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCC GAGCACGGGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0366 a0002c0003t0001g0366	1	404	0.0025	360	c.100 others(377): Show c.1002+439_1002+440insTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACGCACCCCG TGCTCGGCCTCACCGCTCTCCTCCCCACGCTCCCCGTGCTCGGCCTCACC GCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCAC GCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCC GCCTCACCGCTGTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTC CTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCC CGTGCTCCGCCTCACCGCTGTCCTCCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831691	C C	CGAGCACG others(353): Show CGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGA GCGGTGAGGCG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	404	0.0025	360	c.100 others(377): Show c.1002+306_1002+307insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGC TCGGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCT CTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCA CCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCCCCCCACGCACCCCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(353): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACG GGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAG GAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGC GGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	404	0.0025	360	c.100 others(377): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACG CACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGG CCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCC TCCCCACGCACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(353): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACG GGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGG GAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGC CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	404	0.0025	360	c.100 others(377): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACG CACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGG CCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCC TCCCCACGCACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNT9_chr12_132191372_132334589	132241105	C C	CATTACAC others(353): Show CATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATCCCCATTA CACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACAC ACGCCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTACACACACGCC ACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACC CCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTT CCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGG GGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGACCC TCCCTATACCA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	183	0.0055	360	c.107 others(379): Show c.1077+6804_1077+6805insTGGTATAGGGAGGGTCCCGGGAAGGG TGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGT GTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATG GGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGA GGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAAT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241132	A A	AGGGGCCC others(353): Show AGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGG CCTTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTC CCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCA TTACACACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTACA CACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACAC ACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCAC ACCCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0173 a0001c0008t0002g0173	1	183	0.0055	360	c.107 others(379): Show c.1077+6777_1077+6778insGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGG GAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGTGTGTGTTGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGTGT GTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241372	A A	ACCCATTA others(353): Show ACCCATTACACACACGCCACACACCCTTCCCGGGACCCTCCCTATACCAA TTACACACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTACA CACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACAC AACACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCAC ACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACC CTTCCCGGGACCCTCCCTATACCAATTACACACACAACACACACCCTTCC AGGGGCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCCAGGG CCCTCCCTATC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	183	0.0055	360	c.107 others(379): Show c.1077+6537_1077+6538insGATAGGGAGGGCCCTGGGAAGGGGGT GTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGTT GTGTGTGTAATTGGTATAGGGAGGGTCCCGGGAAGGGTGTGTGGCGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGGG TCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241402	C C	CGGGACCC others(353): Show CGGGACCCTCCCTATACCAATTACACACACAACACACACCCTTCCAGGGG CCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCCAGGGCCCTC CCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCA TTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACA CACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACACACAC GCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCAC ACACCCTTACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp2 HG06807.hp1 others(1): Show HG02895.hp1 HG03041.hp2 HG06807.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0035 a0001c0001 a0001c0002 a0001c0035	a0001c0001t0001 a0001c0002t0001 a0001c0035t0009 a0001c0001t0001 a0001c0002t0001 a0001c0035t0009	a0001c0001t0001g0033 a0001c0001t0001g0136 a0001c0002t0001g0079 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0136 a0001c0002t0001g0079 a0001c0035t0009g0140	4	183	0.0219	360	c.107 others(379): Show c.1077+6507_1077+6508insTGTAAGGGTGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGT ATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCT GGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAG GGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGT GTGTTGTGTGTGTAATTGGTATAGGGAGGGTCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241589	C C	CTCCCTAT others(353): Show CTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCC TATACCCATTACACACACGCCACACACCCTTCCCGGGACCCTCCCTATAC CAATTACACACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATT ACACACATGCCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTACACA CACAACACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGC CACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACAC ACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCT TCCCTTGGCCG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	183	0.0055	360	c.107 others(379): Show c.1077+6320_1077+6321insCGGCCAAGGGAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATA GGGAGGGCCCTGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAG GGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGGGTCC CGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241838	A A	ACACACAC others(353): Show ACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACACCC TTCCCGGGGCCCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGC CCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCC CTATACCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATC CCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATCCCCAT TACACACACGC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	183	0.0055	360	c.107 others(379): Show c.1077+6071_1077+6072insGCGTGTGTGTAATGGGGATAGGGAGG GCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCC GGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTG TGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGG CGTGTGTGTAATGGGGATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGT GTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242107	G G	GCCACACC others(353): Show GCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACAC ACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACC CTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCC CGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGG CCTTCCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTC CCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCCGGAGCCCTCCCTATACCCA TTACACACACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0154 a0001c0004t0001g0154	1	183	0.0055	360	c.107 others(379): Show c.1077+5802_1077+5803insTGTGTGTGTAATGGGTATAGGGAGGG CTCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAG GGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGT GTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGT GTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAA TGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242513	C C	CCACACCC others(353): Show CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACA CCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACACCC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCC GGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGC CCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCTTCCCTATA CCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCAT TACACACACAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02040.hp2 HG02080.hp2 others(11): Show HG01978.hp1 HG02040.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG03492.hp1 NA18964.hp1 NA18966.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19063.hp2 NA19091.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0004c0024 a0006c0037	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0004c0024t0001 a0006c0037t0001	a0001c0001t0001g0111 a0001c0002t0001g0135 a0001c0002t0001g0141 others(11): Show a0001c0001t0001g0111 a0001c0002t0001g0135 a0001c0002t0001g0141 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0128 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0109 a0001c0005t0001g0018 a0001c0007t0001g0015 a0004c0024t0001g0160 a0006c0037t0001g0010	14	183	0.0765	360	c.107 others(379): Show c.1077+5396_1077+5397insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCC GGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTG TGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGT GTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGTGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242783	C C	CCACACCC others(353): Show CCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACA CCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACCCCC TTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCC GGGGCCTTCCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACAACACACACACTTCCCGGAGCCCTCCCTATA CCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCCTATACCCAT TACACACACAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0154 a0001c0004t0001g0154	1	183	0.0055	360	c.107 others(379): Show c.1077+5126_1077+5127insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCTCC GGGAAGTGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTGT TGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGT GTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTA ATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242804	T T	TTCCCTAT others(353): Show TTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCTC TATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACA CACGCCGCACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGC CACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACAC CCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCT TCCCGGGGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0104 a0001c0007t0001g0104	1	183	0.0055	360	c.107 others(379): Show c.1077+5105_1077+5106insGGGCCCCGGGAAGGGGGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGG GTATAGGGAAGGCCCCGGGAAGGGGGTGCGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGAGAGGGCCCCGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132243241	C C	CCTTCCCG others(353): Show CCTTCCCGGGGCCTTCCCTATACCCATTACACACACAACACACACCCTTC CCGGGGCCTTCCCTATACCCATTACACACACAACACACACCCTTCCCGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCTT CCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTA TACCCATTACACACACACCATACCCCCTTCCCGGGGCCCTCCCTATACCC ATTACACACACGCCACACCCCCTTCCCGGGGCCTTCCCTATACCCATTAC ACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACA CGCCACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0093	1	183	0.0055	360	c.107 others(379): Show c.1077+4668_1077+4669insTGTGTGTGGCGTGTGTGTAATGGGTA TAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGG AAGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGC CCCGGGAAGGGGGTATGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGG GAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGG GGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTG TGTTGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGTGTGTGTTG TGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GET4_chr7_871554_901436	889922	A A	AGAGCGGG others(353): Show AGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCG CGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0260 a0001c0004t0004g0260	1	384	0.0026	360	c.467 others(375): Show c.467-996_467-995insTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLB1L2_chr11_134326988_134381324	134369530	C C	CAGGTGTG others(353): Show CAGGTGTGAGCCACCGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGT GCTGGGATTATAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACAAGCGATCCTC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACA AGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGT GCTGGGATTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp1 NA19057.hp1 HG00408.hp1 HG02040.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0134 a0001c0001t0001g0179 a0001c0004t0001g0038 a0001c0001t0001g0134 a0001c0001t0001g0179 a0001c0004t0001g0038	3	414	0.0073	360	c.102 others(377): Show c.1028-262_1028-261insCGCACAAGCGATCCTCCTGCCTTGGCCT CCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACAAGCGATCCTCCT GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACAAG CGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCC ACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACA GGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGC TGGGATTACAGGTGTGAGCCACTGCACAAGCGATCCTCCTGCCTTGGCCT CCCAAAGTGCTGGGATTATAGGTGTGAGCCAC	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(353): Show CATATGTATATGTATATATATAGACATACATATGTATATGTATATATATA GACATACATATGTATATGTCTATATAGACATACATATACATATGTCTATA TAGACATACATATATGTATGTCTATATAGACATATATATCTATATATACA CATATACGTATATATAGACATATACGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATACGTATATGTGTATATACGTATATG TGTATATATAGACATATACGTATATGTGTATATATAGACATATACGTATA TGTGTATATATAGACATATACGTATATGTGTATATATAGACATATATATG TATATGTGTAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00639.hp1 others(24): Show HG00558.hp2 HG00609.hp1 HG00639.hp1 HG01081.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp2 HG02293.hp1 HG02630.hp2 HG03017.hp1 HG03041.hp2 HG04184.hp1 NA18945.hp1 NA18950.hp2 NA18979.hp1 NA19006.hp1 NA19012.hp1 NA19062.hp1 NA19091.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0031 a0001c0002t0003 a0001c0004t0007	a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0038 others(24): Show a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0206 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0005g0057 a0001c0001t0011g0188 a0001c0001t0015g0068 a0001c0001t0020g0048 a0001c0001t0031g0060 a0001c0002t0003g0145 a0001c0004t0007g0094	27	232	0.1164	360	c.930 others(379): Show c.930+22728_930+22729insATAGACATACATATGTATATGTATAT ATATAGACATACATATGTATATGTCTATATAGACATACATATACATATGT CTATATAGACATACATATATGTATGTCTATATAGACATATATATCTATAT ATACACATATACGTATATATAGACATATACGTATATGTGTATATATAGAC ATATACGTATATGTGTATATATAGACATATACGTATATGTGTATATACGT ATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATATAC GTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATAT ATATGTATATGTGTATATATGTATATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(353): Show CATATGTATATGTATATATATAGACATACATATGTATATGTCTATATATA GACATACATATGTATATGTCTATATAGACATACATATACATATGTCTATA TAGACATACATATATGTATGTCTATATAGACATATATATCTATATATACA CATATACGTATATATAGACATATACGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATACGTATATGTGTATATACGTATATG TGTATATATAGACATATACGTATATGTGTATATATACACATATACGTATA TGTGTATATATAGACATATACGTATATGTGTATATATAGACATATATATG TATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0056 a0001c0002t0005g0056	1	232	0.0043	360	c.930 others(379): Show c.930+22728_930+22729insATAGACATACATATGTATATGTCTAT ATATAGACATACATATGTATATGTCTATATAGACATACATATACATATGT CTATATAGACATACATATATGTATGTCTATATAGACATATATATCTATAT ATACACATATACGTATATATAGACATATACGTATATGTGTATATATAGAC ATATACGTATATGTGTATATATAGACATATACGTATATGTGTATATACGT ATATGTGTATATATAGACATATACGTATATGTGTATATATACACATATAC GTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATAT ATATGTATATGTGTATATATGTATATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GOLGA3_chr12_132763914_132833869	132792624	C C	CGAGGGCT others(353): Show CGAGGGCTCCACACAGACCGACCGCACGGGACCTGCACTCGGAGGGCTCC ACACAGACCCACCACACGGGATCTGCACTCGGAGGGCTCCACACGGACCG ACCGCACGGGACCTGCACTCGGAGGGCTCCACACGGACCGACCGCACGGG ACCTGCACTCGGAGGGCTCCACACGGACCCACCCCACGGGATCTCCACTC GGAGGGCTCCACACAGACCGACCACACGGGACCTGCACTCGGAGGGCTCC ACACAGACCCACCACACGGGATCTGCACTCGGAGGGCCCCACACAGACCC ACCCCACGGGACCTGCACTCGGAGGGCTCCACACAGACCCACCACACGGG ATCTGAACTCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0041 a0001c0001t0073g0041	1	308	0.0033	360	c.247 others(379): Show c.2470-1332_2470-1331insCGAGTTCAGATCCCGTGTGGTGGGTC TGTGTGGAGCCCTCCGAGTGCAGGTCCCGTGGGGTGGGTCTGTGTGGGGC CCTCCGAGTGCAGATCCCGTGTGGTGGGTCTGTGTGGAGCCCTCCGAGTG CAGGTCCCGTGTGGTCGGTCTGTGTGGAGCCCTCCGAGTGGAGATCCCGT GGGGTGGGTCCGTGTGGAGCCCTCCGAGTGCAGGTCCCGTGCGGTCGGTC CGTGTGGAGCCCTCCGAGTGCAGGTCCCGTGCGGTCGGTCCGTGTGGAGC CCTCCGAGTGCAGATCCCGTGTGGTGGGTCTGTGTGGAGCCCTCCGAGTG CAGGTCCCGTGCGGTCGGTCTGTGTGGAGCCCTC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GP6_chr19_55008705_55043264	55032891	A A	ACTCGTTC others(353): Show ACTCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGC TCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTC GTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGT TCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTC GTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTCGT GTTAGACACGGTGGGCTCGTTCGTGTGAGACACGGTGGGCTCGTTCGTGT TAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTA GACACGGTGGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0003 a0003c0016t0003	a0003c0016t0003g0386 a0003c0016t0003g0386	1	441	0.0023	360	c.35- others(373): Show c.35-354_35-353insCCCACCGTGTCTAACACGAACGAGCCCACCGT GTCTAACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGT CTCACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCT AACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAA CACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAACA CGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAACACG AACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAACACGAA CGAGCCCACCGTGTCTAACACGAACGAG	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55032891	A A	ACTCGTTC others(353): Show ACTCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGC TCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTC GTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGT TCGTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTC GTGTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTCGT GTTAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGT TAGACACGGTGGGCTCGTTCGTGTTAGACACGGTGGGCTCGTTCGTGTTA GACACGGTGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02486.hp2 HG02922.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0003 a0003c0016t0003	a0003c0016t0003g0313 a0003c0016t0003g0360 a0003c0016t0003g0313 a0003c0016t0003g0360	2	441	0.0045	360	c.35- others(373): Show c.35-354_35-353insCCCACCGTGTCTAACACGAACGAGCCCACCGT GTCTAACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGT CTAACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCT AACACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAA CACGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAACA CGAACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAACACG AACGAGCCCACCGTGTCTAACACGAACGAGCCCACCGTGTCTAACACGAA CGAGCCCACCGTGTCTAACACGAACGAG	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GRM1_chr6_146024062_146442601	146180181	T T	TAAAAGAT others(353): Show TAAAAGATTATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCAAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	158	0.0063	360	c.950 others(379): Show c.950+20597_950+20598insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAGATTATCTG	GRM1	ENSG00000152822.15	transcript	ENST00000282753.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRTP1_chr13_113319163_113369130	113346466	A A	AGACCCGG others(353): Show AGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGT GCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGA GGATCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGT GGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGT GGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGA GGATCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGACAAGAGC AGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGT GCCTGACAGTG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	288	0.0035	360	c.466 others(377): Show c.466-1508_466-1507insCACTGTCAGGCACAGAGGTCCTCCCGGG TCCACTGTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTTGTCCACAGAGG TCCTCCCGGGTCTGTTCTCAGCCACAGAGATCCTCCTGGGTCTGCTCTCA GCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGG TCTGCTCTTTGCCACAGAGGTCCTCCCAGGTCCACTCTCAGCCACAGAGG TCCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTCTCA GCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGG TCTGCTCTCAGCCACAGAGGTCCTCCCGGGTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346616	G G	GGACCCGG others(353): Show GGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GGCTGAGAACAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGA GGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGT GGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGT GGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGA GGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGT GGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGT GGACAAGAGCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	288	0.0035	360	c.466 others(377): Show c.466-1658_466-1657insTGCTCTTGTCCACAGAGGTCCTCCCGGG TCTGTTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGG TCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCA GGCACAGAGGTCCTCCCGGGTCTGCTCTTGTCCACAGAGGTCCTCCCGGG TCTGTTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGG TCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCTGCTCTTG TCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCGGG TCCACTGTCAGGCACAGAGGTCCTCCCGGGTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653213	C C	CCCCCCTC others(353): Show CCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCC CCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCC CCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCC CCTCCCCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTC CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	290	0.0035	360	c.427 others(377): Show c.427-1065_427-1064insCCCCCTCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCCTC CTCCCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCCCTCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
HBQ1_chr16_175459_186179	186085	G G	GGGAACAG others(353): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGAGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	360	c.49 others(371): Show c.4977_*4978insGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4907		chr16	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(353): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAG AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02717.hp2 HG02922.hp1 others(2): Show HG01167.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0030t0007	a0001c0001t0003g0030 a0001c0001t0005g0049 a0001c0001t0007g0024 others(2): Show a0001c0001t0003g0030 a0001c0001t0005g0049 a0001c0001t0007g0024 a0001c0001t0012g0151 a0001c0030t0007g0035	5	270	0.0185	360	c.178 others(379): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HIVEP3_chr1_41501365_41923922	41544944	A A	ACCATCAC others(353): Show ACCATCACCACCTCTACCACCACCATCACCACCACCACCACCATCACCAC CTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCA TCACCACCACCACCACCATCACCACCTCTACCACCACCATCACCACCACC ACTATCACCACCTCTACCACCACCATCACCACCACCACCACCTCTACCAC CACCATCACTACTACCACCACCACCACCTCTACCACCATCGCTACCATCA CCACCACCACTACCACCTCTACCACCACCACCACCACCACCACCACCACT ACCACCTCTACCACCTCTACCACCTCTACCACCACCATCACTACTACCAC CATCACCACCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0047 a0008c0010t0047	a0008c0010t0047g0027 a0008c0010t0047g0027	1	134	0.0075	360	c.520 others(381): Show c.5208-20035_5208-20034insAGGTGGTGATGGTGGTAGTAGTGA TGGTGGTGGTAGAGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTG GTGGTGGTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGGTAGCGAT GGTGGTAGAGGTGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGG TGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGATG GTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar

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