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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DCLK2_chr4_150073445_150262438	150251145	C C	CCCCACAC others(208): Show CCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCC CCCACACCCCCCACATCTCCCCACACCCCCCACATCTCCCCACACCCCCC ACATCCCCCACACCCCCCACATCCCCCCACATCCCCCACACCCCCACACA TCCCCCACACCCCCACACATCCCCCCACACCCCCACACATCCCCCACACC CCCCAAATCCCCCACA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0107 a0002c0006t0004g0107	1	116	0.0086	215	c.207 others(234): Show c.2073+1464_2073+1465insACACATCCCCCACACCCCCACACATC CCCCACACCCCCACACATCCCCCACACCCCCCACATCTCCCCACACCCCC CACATCTCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCCAC ATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCCACAC CCCCACACATCCCCCACACCCCCCAAATCCCCCACACCC		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
DFFB_chr1_3852476_3890429	3868659	G G	GCCACACC others(208): Show GCCACACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCAC ACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAA GCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCAC ACCACACCAGGCCACA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG04115.hp1 HG03490.hp1 HG03492.hp2 HG04115.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0008 a0002c0004 a0005c0008	a0002c0004t0001 a0005c0008t0006 a0002c0004t0001 a0005c0008t0006	a0002c0004t0001g0108 a0005c0008t0006g0019 a0002c0004t0001g0108 a0005c0008t0006g0019	3	404	0.0074	215	c.510 others(230): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCAGGCCACACCACACCACACCA		DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(208): Show ACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAA GCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCAC ACCACACCAGGCCACACCACGCCACACCACACCAGGCCACACCACACCAG GCCACACCACACCACG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0270 a0001c0001t0004g0270	1	404	0.0025	215	c.510 others(230): Show c.510+619_510+620insAGCCACACCACACCAGGCCACACCACACCA TACCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCA CACCAGGCCACACCACACCAGGCCACACCACGCCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCACGCCACACCA		DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(208): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCG CCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	215	c.27 others(226): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGG CGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG		DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding					795		chr8	TogoVar
DGKB_chr7_14140049_14907751	14211704	T T	TTTTACTC others(208): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGA TTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0012 a0001c0003t0004g0012	1	148	0.0068	215	c.212 others(236): Show c.2123-33554_2123-33553insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACACGAGAGTAAAATCACAAAA CACGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGA GTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DHX40_chr17_59560610_59613345	59569699	A A	AAAATATA others(208): Show AAAATATATATATCTATATATATATTATAGATATATATATTATATATATA TCTATATATATATTATAGATATATATATTATATATATATCTATATATATA TAGATATATATATAATATATATATCTATATATATAGATATATATATAATA TATATATCTATATATATATAGATATATATATAATATATATATCTATATAT ATATAGATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	324	0.0031	215	c.281 others(230): Show c.281-819_281-818insAAATATATATATCTATATATATATTATAGA TATATATATTATATATATATCTATATATATATTATAGATATATATATTAT ATATATATCTATATATATATAGATATATATATAATATATATATCTATATA TATAGATATATATATAATATATATATCTATATATATATAGATATATATAT AATATATATATCTATATATATATAGATATATATAT		DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17						chr17	TogoVar
DHX40_chr17_59560610_59613345	59569699	A A	AATATATA others(208): Show AATATATATATATCTATATATATATTATAGATATATATATTATATATATA TCTATATATATATTATAGATATATATATTATATATATATCTATATATATA TAGATATATATATAATATATATATCTATATATATAGATATATATATAATA TATATATCTATATATATATAGATATATATATAATATATATATCTATATAT ATATAGATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	324	0.0031	215	c.281 others(230): Show c.281-819_281-818insATATATATATATCTATATATATATTATAGA TATATATATTATATATATATCTATATATATATTATAGATATATATATTAT ATATATATCTATATATATATAGATATATATATAATATATATATCTATATA TATAGATATATATATAATATATATATCTATATATATATAGATATATATAT AATATATATATCTATATATATATAGATATATATAT		DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17						chr17	TogoVar
DIAPH3_chr13_59660583_60168928	59858226	T T	TAAAAAAG others(208): Show TAAAAAAGCAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	208	0.0048	215	c.273 others(234): Show c.2737+3180_2737+3181insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTGCTTTTTT		DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	22/27						chr13	TogoVar
DIP2C_chr10_269201_694668	516565	A A	ACGGGGGT others(208): Show ACGGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACG GGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGACACGGGGT AGGGTGGGAGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGT GGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGG GGACACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	215	c.86- others(232): Show c.86-30036_86-30035insACCCTACCCCGTGTCCCCCCCCACCCTA CCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGT GTCCCCCCCCACCCTACCCCGTGTCCCCCTCCCACCCTACCCCGTGTCCC CCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCCTC CCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCCG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLGAP2_chr8_732628_1713476	1508391	C C	CCCCTTAC others(208): Show CCCCTTACCACCCCCCGCAAACCCCCGCAAACCCCCGCCACCCCCTGCAA ACGCCCACCACCCCCCACCCCCCCCACCCCTCACCACCCCCTGCAAACCC CCCCCGCAAACCCCCGCCACCCTCTGCAAACCCTCGCCACCCCCTGCAAA CGCCCACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCCGCCACCCC CTGCAAACGCCCACCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG02976.hp1 HG02258.hp1 HG02922.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0019 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0005g0028 a0002c0001t0019g0030 a0002c0001t0002g0032 a0002c0001t0005g0028 a0002c0001t0019g0030	3	40	0.0750	215	c.172 others(232): Show c.172+6963_172+6964insTTACCACCCCCCGCAAACCCCCGCAAAC CCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCCCCCACCCCTC ACCACCCCCTGCAAACCCCCCCCGCAAACCCCCGCCACCCTCTGCAAACC CTCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCT GCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123911988	G G	GGGGGGGG others(208): Show GGGGGGGGGGTCTGTGTTGGGGTGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGT CTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTC TGTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0042 a0042	a0042c0075 a0042c0075	a0042c0075t0001 a0042c0075t0001	a0042c0075t0001g0124 a0042c0075t0001g0124	1	170	0.0059	215	c.101 others(236): Show c.10135-1102_10135-1101insGTCTGTGTTGGGGTGTCTGTCCTG GGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGG GGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGGT CTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGT CCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGG		DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78					INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGTCT others(208): Show GGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCC TGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCT GGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0001 a0001c0068t0001	a0001c0068t0001g0160 a0001c0068t0001g0160	1	170	0.0059	215	c.101 others(234): Show c.10135-951_10135-950insTCTGTCCCGGGGGGGTCTGTCCTGGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGG TCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGT CCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGG		DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78					INFO_REALIGN_3_PRIME	chr12	TogoVar
DPEP1_chr16_89608642_89643433	89618921	T T	TCCCCTCC others(208): Show TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	250	0.0040	215	c.-10 others(234): Show c.-107+5205_-107+5206insCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(208): Show CTCCCTGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCT GCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0085 a0009c0012t0001g0085	1	250	0.0040	215	c.-10 others(234): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAG		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(208): Show CTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCT GCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	250	0.0040	215	c.-10 others(234): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAG		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10						chr16	TogoVar
DYM_chr18_49031387_49465645	49440616	T T	TATATGAC others(208): Show TATATGACTATATATTATATATTTATATATGACTATATATTATATATATA ATATATGACTATATATTATATATATAACATATGACTATATATTATATATA TAACATATGACTATATATTATATATATATAACATATGACTATATATTATA TATATATAACATATGACTATATATTATATATATATAACATATGACTATAT ATTATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	290	0.0035	215	c.-53 others(234): Show c.-53-10170_-53-10169insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATAAT ATATAGTCATATGTTATATATATAATATATAGTCATATATTATATATATA ATATATAGTCATATATAAATATATAATATATAGTCATAT		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
EIPR1_chr2_3183970_3382818	3316062	C C	CTACCACC others(208): Show CTACCACCATCCTCACCACCATCCCCATACACACCCCCACCACCATCCTC ACCACCATCCCCATACACACCCCCACCACCATCACCACCATCCCCATCCA CAGCCCCTACCACCATCACCACCATCCCCATACACACCCCCTACCACCAC CATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATC CCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0101 a0001c0001t0001g0105	2	250	0.0080	215	c.259 others(234): Show c.259+21954_259+21955insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGTATGGGGATGGTGGTGATGGTGGTAGGGGCTGTGGATGGGGA TGGTGGTGATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTG GTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTA		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
ELL_chr19_18437663_18527070	18442176	C C	CCACACCC others(208): Show CCACACCCTAACACATACCACACCCACACCACACACCCACACACACCACA CCCACCCCAACACACACCACACAACCCACACTGCACACCCCAACACACCA CACCCTCACACCACACACCAACACACACCACACACCAACACACACCACAC CCACACCACACATAAACCACACCCACACCCAACACACATACCACATCCAC ACATCCCAACACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01891.hp2 others(10): Show HG00642.hp2 HG00735.hp2 HG01891.hp2 HG02683.hp2 HG02738.hp2 HG02965.hp1 HG03471.hp2 HG03654.hp1 NA18522.hp2 NA18747.hp1 NA18985.hp1 NA19080.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0015 others(1): Show a0001c0001 a0001c0007 a0001c0015 a0003c0006	a0001c0001t0001 a0001c0001t0012 a0001c0007t0009 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0007t0009 a0001c0015t0001 a0003c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0145 a0001c0001t0001g0180 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0145 a0001c0001t0001g0180 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0012g0228 a0001c0007t0009g0006 a0001c0015t0001g0220 a0003c0006t0001g0226	13	244	0.0533	215	c.25 others(226): Show c.2575_*2576insTGGTGTGTTGGGATGTGTGGATGTGGTATGTGTG TTGGGTGTGGGTGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTG TGTGGTGTGTGTTGGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGC AGTGTGGGTTGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGT GTGGTGTGGGTGTGGTATGTGTTAGGGTGTG		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding					486		chr19	TogoVar
ERICH1_chr8_659200_736224	695609	T T	TCCTCCCT others(208): Show TCCTCCCTCCCCATCAGCCTGCACCTGTGCTCGCTCCTCTCACCCTCCAC TCCTCTCCTTCCTCCCCATCAGCCTGCACTCGCTCCTCTCACCCTCCACT CCTCTCCTTCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTCCACTC TTCTCCTTCTCCACTCCTCTCCTTCCTCCCCATCAACCTGCACCTGTGCT GGCTCCTCTCACCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02970.hp2 others(3): Show HG01891.hp1 HG02451.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 others(3): Show a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	6	378	0.0159	215	c.170 others(232): Show c.170-2998_170-2997insGAGGGTGAGAGGAGCCAGCACAGGTGCA GGTTGATGGGGAGGAAGGAGAGGAGTGGAGAAGGAGAAGAGTGGAGGGTG AGAGGAGCGAGCGCAGGCTGATGGGGAGGAAGGAGAGGAGTGGAGGGTGA GAGGAGCGAGTGCAGGCTGATGGGGAGGAAGGAGAGGAGTGGAGGGTGAG AGGAGCGAGCACAGGTGCAGGCTGATGGGGAGGGAGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	695906	A A	ACTCGCTC others(208): Show ACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCA CTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGC TCGCTCCTCTCACCCTCCACTCTTCTCCTTCTCCACTCCTCTCCTTCCTC CCCATCAACCTGCACCTGTGCTGGCTCCTCTCACCCTCCCTTCCTCTCCA TCAGCCTGCACCTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00639.hp1 others(33): Show HG00323.hp2 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02040.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA18964.hp1 NA18977.hp1 NA19078.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0017 a0001c0001 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0007c0017t0002 a0001c0001t0001 a0001c0001t0002 a0007c0017t0002	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0205 others(32): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0205 a0001c0001t0002g0011 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0297 a0007c0017t0002g0326	36	378	0.0952	215	c.170 others(232): Show c.170-3295_170-3294insCACAGGTGCAGGCTGATGGAGAGGAAGG GAGGGTGAGAGGAGCCAGCACAGGTGCAGGTTGATGGGGAGGAAGGAGAG GAGTGGAGAAGGAGAAGAGTGGAGGGTGAGAGGAGCGAGCGCAGGCTGAT GGGGAGGAAGGAGAGGAGTGGAGGGTGAGAGGAGCGAGTGCAGGCTGATG GGGAGGAAGGAGAGGAGTGGAGGGTGAGAGGAGCGAG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700318	C C	CGCGCACA others(208): Show CGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGGCGCACAGGCCCG CACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGG CCCTCACAGGCCACAGACCCGCACAGGCGCACAGACCCGCACAGGCGCAC AGACCCGCACACGCGCACAGGCCCGCACAGGCGCACAGACCCGCACACGC GCACAGGCCCGCACAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0315 a0001c0001t0002g0316	2	378	0.0053	215	c.170 others(232): Show c.170-7707_170-7706insCTGTGCGGGCCTGTGCGCGTGTGCGGGT CTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGTCTGTGCGCCTGTGC GGGTCTGTGCGCCTGTGCGGGTCTGTGGCCTGTGAGGGCCTGTGCGCGTG TGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCG CCTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700336	C C	CGCGCACA others(208): Show CGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCG CACAGGCGCACAGGCCCGCACACGCGCACAGGCCCTCACAGGCCACAGAC CCGCACAGGCGCACAGACCCGCACAGGCGCACAGACCCGCACACGCGCAC AGGCCCGCACAGGCGCACAGACCCGCACACGCGCACAGGCCCGCACAGGC GCACAGGCCCGCACAG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0343 a0001c0002t0002g0343	1	378	0.0027	215	c.170 others(232): Show c.170-7725_170-7724insCTGTGCGGGCCTGTGCGCCTGTGCGGGC CTGTGCGCGTGTGCGGGTCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGC GGGTCTGTGCGCCTGTGCGGGTCTGTGCGCCTGTGCGGGTCTGTGGCCTG TGAGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCG CGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
FAM13A_chr4_88720960_89062185	89042101	C C	CAAGGTGA others(208): Show CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18982.hp2 HG01069.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0002 a0001c0003t0004 a0002c0002t0002	a0001c0003t0004g0029 a0002c0002t0002g0014 a0001c0003t0004g0029 a0002c0002t0002g0014	2	208	0.0096	215	c.28- others(232): Show c.28-12453_28-12452insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT		FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	1/23						chr4	TogoVar
FGD6_chr12_95071749_95222467	95148809	T T	TATATTAT others(208): Show TATATTATATAATATATAGCATATGTTATATATAATATAAGATATAGCAT ATATTATATATAATATAAGATATAGCATATATTATATATAATATAATATA TAGCATATATTATATATTATATAATATATAGCATATATATAATATTATAT AATATATATGCTATATATTATATAATATATAATATATATGCTATATATTA TATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0162 a0001c0001t0006g0162	1	384	0.0026	215	c.268 others(234): Show c.2685+4001_2685+4002insTATATTATATAATATATAATATATAG CATATATATTATATATTATATAATATATAGCATATATATTATATAATATT ATATATATGCTATATATTATATAATATATAATATATGCTATATATTATAT TATATATAATATATGCTATATCTTATATTATATATAATATATGCTATATC TTATATTATATATAACATATGCTATATATTATATAATAT		FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20						chr12	TogoVar
GABRA3_chrX_152161234_152456315	152182714	A A	ACTATACA others(208): Show ACTATACACTGTATATGTATATATAGTGTATATATACACTATACACTGTA TATGTATATATAGTGTATATATACACTATACACTGTATATGTATATATAG TGTATATATACACTATACACTGTATATGTATATATAGTGTATATATACAC TATACACTGTATATGTATATATAGTGTATATATACACTATATATACACTA TATAGTGTATATATAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 HG02132.hp1 others(6): Show HG02027.hp1 HG02080.hp2 HG02132.hp1 HG02523.hp1 NA18966.hp1 NA18971.hp1 NA18982.hp1 NA18986.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016	a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0004g0008 others(6): Show a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0004g0008 a0001c0001t0004g0028 a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0060 a0001c0001t0016g0173	9	204	0.0441	215	c.114 others(234): Show c.1143+7015_1143+7016insCTATATATACACTATATAGTGTATAT ATAGTGTATATATACACTATATATACATATACAGTGTATAGTGTATATAT ACACTATATATACATATACAGTGTATAGTGTATATATACACTATATATAC ATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTAT AGTGTATATATACACTATATATACATATACAGTGTATAG		GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9						chrX	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(208): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGGGAGGGGATGGG CGGGGGGGGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	364	0.0028	215	c.-20 others(224): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGG GGGAGGGGATGGGCGGGGGGGGAGGGGAG		GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding					124		chr1	TogoVar
GALNT13_chr2_153866922_154458979	154298608	T T	TAATTTAT others(208): Show TAATTTATATATACATTGTATATATAATTTATATATACATTGTATATATA ATTTATATATACAATGTATATATAATTTATATATACATTGTATATATAAA TTATATATACAATGTATATATAATTTATATATAAATTGTATATATAATTT ATATATACAATGTATATATAATTTATATATACATTGTATATATAAATTAT ATATACAATGTATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	214	0.0047	215	c.976 others(232): Show c.976-2801_976-2800insAATTTATATATACATTGTATATATAATT TATATATACATTGTATATATAATTTATATATACAATGTATATATAATTTA TATATACATTGTATATATAAATTATATATACAATGTATATATAATTTATA TATAAATTGTATATATAATTTATATATACAATGTATATATAATTTATATA TACATTGTATATATAAATTATATATACAATGTATATA		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12						chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298608	T T	TAATTTAT others(208): Show TAATTTATATATACATTGTATATATAATTTATATATACATTGTATATATA ATTTATATATACAATGTATATATAATTTATATATACATTGTATATATAAA TTATATATACAATGTATATATAATTTATATATACATTGTATATATAATTT ATATATACAATGTATATATAATTTATATATACATTGTATATATAAATTAT ATATACAATGTATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01257.hp1 HG01346.hp1 others(18): Show HG01169.hp1 HG01257.hp1 HG01346.hp1 HG01516.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02135.hp2 HG02273.hp2 HG03710.hp2 HG03834.hp2 NA18612.hp1 NA18939.hp2 NA18952.hp2 NA18953.hp1 NA18975.hp1 NA18993.hp1 NA19057.hp1 NA19060.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0029 a0001c0001t0040	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0041 others(18): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0004g0002 a0001c0001t0004g0204 a0001c0001t0005g0121 a0001c0001t0007g0190 a0001c0001t0007g0196 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0008g0030 a0001c0001t0009g0089 a0001c0001t0009g0127 a0001c0001t0010g0191 a0001c0001t0010g0201 a0001c0001t0013g0151 a0001c0001t0029g0166 a0001c0001t0040g0082	21	214	0.0981	215	c.976 others(232): Show c.976-2801_976-2800insAATTTATATATACATTGTATATATAATT TATATATACATTGTATATATAATTTATATATACAATGTATATATAATTTA TATATACATTGTATATATAAATTATATATACAATGTATATATAATTTATA TATACATTGTATATATAATTTATATATACAATGTATATATAATTTATATA TACATTGTATATATAAATTATATATACAATGTATATA		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12						chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298608	T T	TAATTTAT others(208): Show TAATTTATATATACATTGTATATATAATTTATATATACATTGTATATATA ATTTATATATACAATGTATATATAATTTATATATACATTGTATATATAAA TTATATATACAATGTATATATAATTTATATATACATTGTATATATAATTT ATATATACAATGTATATATAATTTATATATACATTGTATATATAAATTAT ATATACATTGTATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19004.hp1 NA19011.hp2 others(1): Show HG02040.hp1 NA19004.hp1 NA19011.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0068 a0001c0001t0004 a0001c0001t0005 a0001c0001t0068	a0001c0001t0004g0003 a0001c0001t0004g0189 a0001c0001t0005g0117 others(1): Show a0001c0001t0004g0003 a0001c0001t0004g0189 a0001c0001t0005g0117 a0001c0001t0068g0177	4	214	0.0187	215	c.976 others(232): Show c.976-2801_976-2800insAATTTATATATACATTGTATATATAATT TATATATACATTGTATATATAATTTATATATACAATGTATATATAATTTA TATATACATTGTATATATAAATTATATATACAATGTATATATAATTTATA TATACATTGTATATATAATTTATATATACAATGTATATATAATTTATATA TACATTGTATATATAAATTATATATACATTGTATATA		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12						chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298608	T T	TAATTTAT others(208): Show TAATTTATATATACATTGTATATATAATTTATATATACATTGTATATATA ATTTATATATACAATGTATATATAATTTATATATACATTGTATATATAAA TTATATATACAATGTATATATAATTTATATATACATTGTATATATAATTT ATATATACATTGTATATATAATTTATATATACATTGTATATATAAATTAT ATATACAATGTATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	214	0.0047	215	c.976 others(232): Show c.976-2801_976-2800insAATTTATATATACATTGTATATATAATT TATATATACATTGTATATATAATTTATATATACAATGTATATATAATTTA TATATACATTGTATATATAAATTATATATACAATGTATATATAATTTATA TATACATTGTATATATAATTTATATATACATTGTATATATAATTTATATA TACATTGTATATATAAATTATATATACAATGTATATA		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12						chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298608	T T	TAATTTAT others(208): Show TAATTTATATATACATTGTATATATAATTTATATATACATTGTATATATA ATTTATATATACAATGTATATATAATTTATATATACATTGTATATATAAA TTATATATACAATGTATATATAATTTATATATACATTGTATATATAATTT ATATGTACAATGTATATATAATTTATATATACATTGTATATATAAATTAT ATATACATTGTATATA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18990.hp2 NA18961.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0071 a0001c0001t0046 a0001c0001t0071	a0001c0001t0046g0186 a0001c0001t0071g0175 a0001c0001t0046g0186 a0001c0001t0071g0175	2	214	0.0094	215	c.976 others(232): Show c.976-2801_976-2800insAATTTATATATACATTGTATATATAATT TATATATACATTGTATATATAATTTATATATACAATGTATATATAATTTA TATATACATTGTATATATAAATTATATATACAATGTATATATAATTTATA TATACATTGTATATATAATTTATATGTACAATGTATATATAATTTATATA TACATTGTATATATAAATTATATATACATTGTATATA		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12						chr2	TogoVar
GALNT2_chr1_230062238_230287122	230127537	A A	AGCTAATT others(208): Show AGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0256 a0001c0001t0008g0256	1	324	0.0031	215	c.127 others(234): Show c.127-50663_127-50662insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTGTATTTTT		GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
GALR1_chr18_77244848_77282900	77258845	G G	GTGGTGGT others(208): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGGT GGTCATGGTGGTGATGGTGATGGTGGTGGTGGTCATGTGATGGTGGTGCT GGTGATGGTGGTGATGGTGACGATGGTTATGGTGGTGATGATGGCAATTG TGATAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTCATAGTG GTGGTGGTGCTGGTGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0084 a0001c0001t0085g0084	1	366	0.0027	215	c.732 others(232): Show c.732+2639_732+2640insATGGTGGTGGTGGTCATAGTGGTGGTGG TGGTGGTCATGGTGGTGATGGTGATGGTGGTGGTGGTCATGTGATGGTGG TGCTGGTGATGGTGGTGATGGTGACGATGGTTATGGTGGTGATGATGGCA ATTGTGATAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTCAT AGTGGTGGTGGTGCTGGTGATGGTGGTGATGGTGGTG		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GGTGGCGA others(208): Show GGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTG GTGATGTTGGTGTTGGTGGTGGTCATGGTGGTGATGATGGTGGTGATGAT GGTGGTGATGATGGTGGTGATGATGGTGGTCATGGTGGTCATGGTGGCGA TTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTT GGTGTTGGTGGTGGTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0055 a0001c0001t0150g0055	1	366	0.0027	215	c.732 others(232): Show c.732+2951_732+2952insGTGGCGATTGTGGTGATGGTGGTGGATG GTGGTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGT GGTGATGATGGTGGTGATGATGGTGGTGATGATGGTGGTGATGATGGTGG TCATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGT GGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTC		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2						chr18	TogoVar
GFOD1_chr6_13352830_13492600	13434518	A A	ACACAGAA others(208): Show ACACAGAAGTCAAGTGCAGGGCATTATGGGAACACAGAAGTCAAGTGCAG GGCCTTATGGGAACACAGAAGTCAAGTGCAGGGCTTTATGGGAACACAGA AATCAAGTGCAGGGCATTATGGGAATATAGAGGTCAAGTTCAGGGCATTA TGGGAACACAGGAATCAAGTGCATGGCATTATGAGAACACAAATCAAGTG CAGAGCATTATGGAAG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0111 a0001c0001t0020g0111	1	230	0.0044	215	c.253 others(234): Show c.253+52119_253+52120insCTTCCATAATGCTCTGCACTTGATTT GTGTTCTCATAATGCCATGCACTTGATTCCTGTGTTCCCATAATGCCCTG AACTTGACCTCTATATTCCCATAATGCCCTGCACTTGATTTCTGTGTTCC CATAAAGCCCTGCACTTGACTTCTGTGTTCCCATAAGGCCCTGCACTTGA CTTCTGTGTTCCCATAATGCCCTGCACTTGACTTCTGTG		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GK_chrX_30648423_30736462	30663964	T T	TATATATA others(208): Show TATATATATTTTATATATATCTATATATATTTTATAGATATATATTTTAT ATATATCTATATATATTTTATAGATATATATTTTATATATATCTATATAT ATTTATAGATATATATTTTATATATATCTATATATATTTTATAGATATAT ATTTTATATATATCTATATATATTTTATAGATATATATTTTATATATATC TATATATATTTTATAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	286	0.0035	215	c.79- others(230): Show c.79-1444_79-1443insATAGATATATATTTTATATATATCTATATA TATTTTATAGATATATATTTTATATATATCTATATATATTTTATAGATAT ATATTTTATATATATCTATATATATTTTATAGATATATATTTTATATATA TCTATATATATTTTATAGATATATATTTTATATATATCTATATATATTTT ATAGATATATATTTTATATATATCTATATATATTT		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGG others(208): Show GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAA GGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0098 a0001c0001t0068g0098	1	188	0.0053	215	c.229 others(234): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTT CCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTC CCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCC TCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10						chr9	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(208): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCC CGCCCCGCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	215	c.31 others(226): Show c.3138_*3139insGGGGAGGGGCGGGGCGGGGCGGGGCGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGG		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2460		chr16	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440318	T T	TCCCGCAT others(208): Show TCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACAT CTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTGC TCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCCT GCTCCCATATCTTCTC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(20): Show a0001 a0005 a0006 a0009 a0011 a0017 a0019 a0020 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0036 a0037 a0038 a0039 a0040 a0041 a0042	a0001c0001 a0001c0003 a0001c0005 others(53): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0049 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0005c0006 a0006c0009 a0006c0073 a0009c0020 a0009c0031 a0011c0028 a0017c0026 a0019c0052 a0020c0047 a0022c0074 a0023c0077 a0024c0048 a0025c0050 a0026c0072 a0027c0044 a0028c0030 a0029c0051 a0036c0035 a0037c0071 a0038c0046 a0039c0080 a0040c0081 a0041c0078 a0042c0075	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(66): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0007t0001 a0001c0007t0009 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0049t0001 a0001c0053t0025 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0009 a0001c0065t0001 a0001c0066t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0005c0006t0001 a0005c0006t0003 a0005c0006t0004 a0006c0009t0001 a0006c0073t0001 a0009c0020t0010 a0009c0031t0010 a0011c0028t0015 a0011c0028t0016 a0017c0026t0005 a0019c0052t0001 a0020c0047t0001 a0022c0074t0001 a0023c0077t0001 a0024c0048t0004 a0025c0050t0001 a0026c0072t0001 a0027c0044t0001 a0028c0030t0019 a0029c0051t0001 a0036c0035t0004 a0037c0071t0001 a0038c0046t0004 a0039c0080t0004 a0040c0081t0001 a0041c0078t0001 a0042c0075t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0105 a0001c0001t0012g0038 a0001c0001t0018g0073 a0001c0001t0020g0097 a0001c0001t0023g0106 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0132 a0001c0005t0001g0008 a0001c0005t0001g0086 a0001c0005t0001g0090 a0001c0005t0001g0111 a0001c0005t0004g0091 a0001c0007t0001g0007 a0001c0007t0009g0036 a0001c0013t0001g0021 a0001c0013t0003g0094 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0095 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0049t0001g0064 a0001c0053t0025g0068 a0001c0054t0001g0069 a0001c0055t0001g0070 a0001c0056t0001g0071 a0001c0057t0001g0089 a0001c0058t0001g0096 a0001c0059t0001g0072 a0001c0060t0001g0074 a0001c0061t0001g0075 a0001c0062t0001g0076 a0001c0063t0001g0098 a0001c0064t0009g0077 a0001c0065t0001g0099 a0001c0066t0001g0100 a0001c0067t0001g0078 a0001c0068t0001g0101 a0001c0069t0001g0079 a0001c0070t0001g0080 a0005c0006t0001g0010 a0005c0006t0003g0020 a0005c0006t0004g0067 a0006c0009t0001g0011 a0006c0009t0001g0037 a0006c0073t0001g0054 a0009c0020t0010g0045 a0009c0031t0010g0129 a0011c0028t0015g0046 a0011c0028t0016g0047 a0017c0026t0005g0044 a0019c0052t0001g0066 a0020c0047t0001g0092 a0022c0074t0001g0103 a0023c0077t0001g0109 a0024c0048t0004g0049 a0025c0050t0001g0093 a0026c0072t0001g0102 a0027c0044t0001g0131 a0028c0030t0019g0060 a0029c0051t0001g0065 a0036c0035t0004g0115 a0037c0071t0001g0081 a0038c0046t0004g0062 a0039c0080t0004g0136 a0040c0081t0001g0137 a0041c0078t0001g0110 a0042c0075t0001g0084	287	396	0.7248	215	c.215 others(224): Show c.2156_2157insGAGAAGATATGGGAGCAGGAGAAGATGCGGGACCAG GAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAA GATGTGGGGGCAGGAGGAGAAGATGCGGGAGCAGGAAGATGTGGAGACAG GAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATGTGGGAGCAGGAGGAGAA GATGCGGAAGCAGGAGGAGAAGATGCGGG	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2218/3499	2156/2730	719/909			chr15	TogoVar
GPIHBP1_chr8_143208218_143222170	143218345	C C	CCCAACAC others(208): Show CCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCA ACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACAC CACCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAA CACCACCACCAACACCACCCAACACCATGCCCCACACCACCCCCAACACC ACCCCCAACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	106	0.0094	215	c.28 others(226): Show c.2827_*2828insCCAACACCACCCCCACACTGCCCCCACACCAGCC CCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAA CACCACCCCCAACACCACCCAACACCACCCCCAACACCATCCCCAACACC CCAATAACCCCCCAACACCACCACCAACACCACCCAACACCATGCCCCAC ACCACCCCCAACACCACCCCCAACACCACCT		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					1176		chr8	TogoVar
GPR139_chr16_20023239_20078890	20041128	A A	AAGGAAAG others(208): Show AAGGAAAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0226 a0001c0001t0005g0226	1	364	0.0028	215	c.128 others(232): Show c.128-8460_128-8459insCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTTTCCT		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GRIK4_chr11_120506748_120993906	120794095	G G	GTGTTAGG others(208): Show GTGTTAGGGCTGAGAGCCGGGTGATGGTTACAGGTGAGGGAAGTTGTTAG GGCTGAGAGCCGGGTGATGGTTACAGGTGAGGGAAGTTGTTAGGGCTGAG AGCCGGGTGATGGTTACAGGTGAGGGAAGTTGTTAGGGCTGAGAGCCGGG TGATGGTTACAGGTGAGGGAAGTTGTTAGGGCTGAGAGCCGGGTGATGGT TACAGGTGAGGGAAGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp2 HG02451.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0023 a0001c0003t0001g0005 a0001c0002t0001g0023 a0001c0003t0001g0005	2	128	0.0156	215	c.83- others(230): Show c.83-8461_83-8460insCTGAGAGCCGGGTGATGGTTACAGGTGAGG GAAGTTGTTAGGGCTGAGAGCCGGGTGATGGTTACAGGTGAGGGAAGTTG TTAGGGCTGAGAGCCGGGTGATGGTTACAGGTGAGGGAAGTTGTTAGGGC TGAGAGCCGGGTGATGGTTACAGGTGAGGGAAGTTGTTAGGGCTGAGAGC CGGGTGATGGTTACAGGTGAGGGAAGTTGTTAGGG		GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
GTF2IRD1_chr7_74448906_74607605	74494726	T T	TAAAAAAA others(208): Show TAAAAAAAACAAAAAACCACTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00280.hp2 HG00323.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0225 a0002c0007t0001g0237 a0002c0007t0001g0225 a0002c0007t0001g0237	2	262	0.0076	215	c.-6- others(232): Show c.-6-13331_-6-13330insCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAACAAAAAACCA		GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(208): Show CATATAGTTATATATTATATACATGTATATAACATATAGTTATATATTAT ATACATGTATATAACATATAGTTATATATTATATACATGTATATAACATA TAGTTATATATTATATACATGTATATAACATATAGTTATGTATATTATAT ACATGTATATAACATAGTTATATACATATAACTATATGTATATAATATAT AGTACATGTATATAAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	256	0.0039	215	c.183 others(234): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAATATATA ACTATATGTTATATACATGTATATAATATATAACTATAT		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
HERC4_chr10_67916905_68080283	68059721	T T	TATATTAT others(208): Show TATATTATAATATTATATATCATAATATTATATATTATAATATTATATAT CATAATATTATATATTATAATATTATATATCATAATATTATATATTATAA TATATATCATAATATTATATATTATAATATTATATATCATAATATTATAT ATTATAATATTATATATCATAATATTATATATTATAATATTATATATCAT AATATTATATATTATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	360	0.0028	215	c.226 others(234): Show c.226+13161_226+13162insTATAATATATAATATTATGATATATA ATATTATAATATATAATATTATGATATATAATATTATAATATATAATATT ATGATATATAATATTATAATATATAATATTATGATATATATTATAATATA TAATATTATGATATATAATATTATAATATATAATATTATGATATATAATA TTATAATATATAATATTATGATATATAATATTATAATAT		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24						chr10	TogoVar
HMCN1_chr1_185729391_186195949	186005303	A A	ATAAACGT others(208): Show ATAAACGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAACAA TTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTATAA ATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAACAATTTT TTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTATAAATGT TTATAAACAATTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0004 a0010c0011t0004	a0010c0011t0004g0057 a0010c0011t0004g0057	1	92	0.0109	215	c.447 others(234): Show c.4475+1459_4475+1460insTAAACGTTTATAAACAATTTTTTAAT TGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATA AACAATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTT TATAAATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAACA ATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTT		HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106						chr1	TogoVar
HMCN1_chr1_185729391_186195949	186005303	A A	ATAAATGT others(208): Show ATAAATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAACAA TTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTATAA ATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAACAATTTT TTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTATAAATGT TTATAAACAATTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0004 a0010c0011t0004	a0010c0011t0004g0058 a0010c0011t0004g0058	1	92	0.0109	215	c.447 others(234): Show c.4475+1459_4475+1460insTAAATGTTTATAAACAATTTTTTAAT TGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATA AACAATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTT TATAAATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAACA ATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTT		HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106						chr1	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(208): Show ATATATATAATATATATATATATAATATATATTATATATATTATATATAT ATTAATATAATATATTATATATAAATATATATATAATATATATATTAATA TATATATTATATATAATATATATATTATATATATAATATATATATTAATA TATATAATATATATAAATATATATATATTATATATATAATATATATATTA TATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	414	0.0024	215	c.57 others(226): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATAATATATATATATTTATATATATTATATATATTAATATATATATTAT ATATATAATATATATATTATATATAATATATATATTAATATATATATTAT ATATATATTTATATATAATATATTATATTAATATATATATAATATATATA ATATATATTATATATATATATATTATATATA		HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding					4940		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(208): Show ATATATATAATATATATATATATATAATATATTATATATATTATATATAT ATTAATATAATATATTATATATAAATATATATATAATATATATATTAATA TATATATTATATATAATATATATATTATATATATAATATATATATTAATA TATATAATATATATAAATATATATATATTATATATATAATATATATATTA TATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01256.hp2 HG01928.hp1 others(25): Show HG00408.hp2 HG01256.hp2 HG01928.hp1 HG01981.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18950.hp1 NA18962.hp2 NA18968.hp1 NA18974.hp1 NA18982.hp1 NA18983.hp1 NA18993.hp2 NA19001.hp1 NA19007.hp1 NA19009.hp1 NA19060.hp2 NA19070.hp2 NA19084.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(8): Show a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0024g0115	28	414	0.0676	215	c.57 others(226): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATAATATATATATATTTATATATATTATATATATTAATATATATATTAT ATATATAATATATATATTATATATAATATATATATTAATATATATATTAT ATATATATTTATATATAATATATTATATTAATATATATATAATATATATA ATATATTATATATATATATATATTATATATA		HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding					4940		chr21	TogoVar
HS3ST2_chr16_22809162_22921338	22819161	T T	TTCCTTCC others(208): Show TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18979.hp2 HG02895.hp1 HG02897.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0225 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0001t0001g0225 a0001c0002t0001g0065 a0001c0002t0001g0066	3	350	0.0086	215	c.485 others(232): Show c.485+4077_485+4078insTTCATTCCTTCCTTCCTTCCTTCCTTCC CTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC ATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar

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