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
FER_chr5_108742897_109201841	108992508	A A	ACCCCCCA others(219): Show ACCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCTCAGAC GGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCAGGCAGGGGGCTGACCCCCCCCACCTCCCTCCGGGACG GGGCGGCTGGCCGGGCAGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01358.hp1 others(9): Show HG00735.hp2 HG01099.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG02109.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp1 HG03017.hp2 HG04204.hp1 NA20905.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 others(7): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0010 a0001c0005t0016 a0001c0007t0002 a0001c0007t0004 a0001c0007t0015 a0001c0007t0039 a0001c0007t0050	a0001c0005t0001g0101 a0001c0005t0002g0099 a0001c0005t0004g0038 others(9): Show a0001c0005t0001g0101 a0001c0005t0002g0099 a0001c0005t0004g0038 a0001c0005t0004g0075 a0001c0005t0010g0024 a0001c0005t0016g0039 a0001c0007t0002g0132 a0001c0007t0004g0138 a0001c0007t0015g0123 a0001c0007t0015g0127 a0001c0007t0039g0131 a0001c0007t0050g0129	12	138	0.0870	226	c.165 others(247): Show c.1656+33178_1656+33179insAGACGGGGTGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCTCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCAGGCAGGGGGCTGACCCCCCCCACCTCCCT CCGGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTC CC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FMN1_chr15_32760544_33199714	32949964	T T	TATATACA others(219): Show TATATACACATATATATATATATATATATATACACATATATATATATATA TATATACACATATATATATATATATATATATACACATATATATATATATA TATATACACATATATATATATATATATATATACACATATATATATATATA TATACACATATATATATATATATATACACATATATATATACACATACACA TATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0064 a0005c0013t0064	a0005c0013t0064g0189 a0005c0013t0064g0189	1	196	0.0051	226	c.313 others(247): Show c.3138+14142_3138+14143insGTGTATATATATATGTGTATATAT ATATGTGTATGTGTATATATATATGTGTATATATATATATATATATGTGT ATATATATATATATATATGTGTATATATATATATATATATATATGTGTAT ATATATATATATATATATGTGTATATATATATATATATATATATGTGTAT ATATATATATATATATATGTGTATATATATATATATATATATATGTGTAT AT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FOXP1_chr3_70949708_71588728	71396980	A A	ACACATAT others(219): Show ACACATATATATGTGTATATATATATATACACATATATATGTGTATATAT ATACATATATATATGTGTATATATATATATATACACACATATATATGTGT ATATATATATACATATATATGTGTATATATATATACACATATATATGTGT ATATATATATACACACATATATATATGTGTATATATATACACATATATAT GTGTATATATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0030 a0001c0001t0075g0030	1	96	0.0104	226	c.-16 others(247): Show c.-167-37737_-167-37736insCATATATATGTGTATATATATATA CACATATATATGTGTATATATATACACATATATATATGTGTGTATATATA TATACACATATATATGTGTATATATATATACACATATATATGTATATATA TATACACATATATATGTGTGTATATATATATATATACACATATATATATG TATATATATACACATATATATGTGTATATATATATATACACATATATATG TG	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GABRA3_chrX_152161234_152456315	152275142	A A	ATATATAT others(219): Show ATATATATATTTAATATTATATATATAAAATTTATATATATTTAATATTA TATATATAATTTATATATATTTAATATTATATATATAATTTATATATATT TAATATTATATATATAATTTATATTTAATATTATATATATAATTTATATA TATTTAATATTATATATATAATTTATATTTAATATTATATATATAATTTA TATATATTTAATATTATATATATAATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03540.hp2 NA20129.hp2 HG02109.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0089	3	204	0.0147	226	c.330 others(243): Show c.330+9525_330+9526insAATTATATATATAATATTAAATATATAT AAATTATATATATAATATTAAATATAAATTATATATATAATATTAAATAT ATATAAATTATATATATAATATTAAATATAAATTATATATATAATATTAA ATATATATAAATTATATATATAATATTAAATATATATAAATTATATATAT AATATTAAATATATATAAATTTTATATATATAATATTAAATATATATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241805416	C C	CAGCCCAG others(219): Show CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGA CGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCT CTTAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACTCTCCCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	314	0.0032	226	c.12 others(237): Show c.1250_*1251insAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1130		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132240869	G G	GTCCCTAT others(219): Show GTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCGTCCC TATACCCATTACACACACACCACGCCCCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCAGGGCCCTCCCTATCCCCTTT ACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTTGCAC ACACGCCATGCCCCCTTCCCGGGGCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	183	0.0055	226	c.107 others(245): Show c.1077+7040_1077+7041insGGGCCCCGGGAAGGGGGCATGGCGTG TGTGCAAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTG TAAAGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATG GGTATAGGGAGGGCCCCGGGAAGGGGGCGTGGTGTGTGTGTAATGGGTAT AGGGACGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132240874	T T	TATACCCA others(219): Show TATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCGTCCCTATAC CCATTACACACACACCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACGCCACACCCCCTTCCCAGGGCCCTCCCTATCCCCTTTACACA CAAGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTTGCACACACG CCATGCCCCCTTCCCGGGGCCCTCCCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	183	0.0055	226	c.107 others(245): Show c.1077+7035_1077+7036insTGGGAGGGCCCCGGGAAGGGGGCATG GCGTGTGTGCAAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCTT GTGTGTAAAGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGGGGGCGTGGTGTGTGTGTAATG GGTATAGGGACGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTAT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242186	A A	ATTACACA others(219): Show ATTACACACACACCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTAC ACACACACCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTACACACA CAACACACACCCTTCCCGGGGCCCTCCCTATACACATTACACACACGCCA CACCCCCTTCCCAGGGCCCTCCCTATCCCCATTACACACACACCACACCC CCTTCCCGGGGCCCTCCCTATACCCAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	183	0.0055	226	c.107 others(245): Show c.1077+5723_1077+5724insATGGGTATAGGGAGGGCCCCGGGAAG GGGGTGTGGTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGT GTGGCGTGTGTGTAATGTGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTT GTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGTGTGTG TGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGTGTGTGTGTAA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132243102	A A	ACCCCCTT others(219): Show ACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCC CTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCC CGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGG CCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACGCCACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	183	0.0055	226	c.107 others(245): Show c.1077+4807_1077+4808insGTGTGGCGTGTGTGTAATGGGTATAG GGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPR157_chr1_9095305_9134102	9116180	T T	TTATATAT others(219): Show TTATATATATAATATAATTATATATATTTATATTATATATTATATATAAT ATAATTATATATAATTATATTATATATATATTATATTATATATAATTATA TATAATTATATATATATTATATGTAATATAAATATATATAATTATATTAT ATATATTATATGTAATATAATTATATATATTTATATTATATATTATATAT AATATAATTATATATATAATTATAATA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	404	0.0025	226	c.384 others(243): Show c.384-4692_384-4691insTATTATAATTATATATATAATTATATTA TATATAATATATAATATAAATATATATAATTATATTACATATAATATATA TAATATAATTATATATATTTATATTACATATAATATATATATAATTATAT ATAATTATATATAATATAATATATATATAATATAATTATATATAATTATA TTATATATAATATATAATATAAATATATATAATTATATTATATATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116292	A A	ATTATATT others(219): Show ATTATATTATATATAATTATATATAATTATATTATATATTATATGTAATA TAAATATATATAATTATATTATATATATTATATGTAATATAATTATATAT ATTTATATTATATATTATATATAATATAATTATATATATAATTATAATAT ATATTATATATAATATAATTATATATATAATTTATATATATTATATATAT ATATAATTATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	404	0.0025	226	c.384 others(243): Show c.384-4804_384-4803insATATATATATTATATATATAATTATATA TATATATAATATATATAAATTATATATATAATTATATTATATATAATATA TATTATAATTATATATATAATTATATTATATATAATATATAATATAAATA TATATAATTATATTACATATAATATATATAATATAATTATATATATTTAT ATTACATATAATATATAATATAATTATATATAATTATATATAATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116292	A A	ATTATATT others(219): Show ATTATATTATATATAATTATATATAATTATATTATATATTATATGTAATA TAAATATATATAATTATATTATATATATTATATGTAATATAATTATATAT ATTTATATTATATATTATATATAATATAATTATATATATAATTATAATAT ATATTATATATAATATAATTATATATATAATTTATATATATTATATTATA ATAAAATTATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	404	0.0025	226	c.384 others(243): Show c.384-4804_384-4803insATATATATATTATATATATAATTTTATT ATAATATAATATATATAAATTATATATATAATTATATTATATATAATATA TATTATAATTATATATATAATTATATTATATATAATATATAATATAAATA TATATAATTATATTACATATAATATATATAATATAATTATATATATTTAT ATTACATATAATATATAATATAATTATATATAATTATATATAATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CACATATA others(219): Show CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATGTGTACACATA TATATACACATATATGTGTACACATATATATACACATATATGTACACATA TATATATACACATATATGTACACATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0179	1	418	0.0024	226	c.167 others(243): Show c.1678-387_1678-386insCATATATGTGTACACATATATATACACA TATATGTGTACACATATATATACACATATATGTGTACACATATATATACA CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTACACATATATATATACACATATATGTACACATATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998583	T T	TGTGTACA others(219): Show TGTGTACACATATATATACACATATATGTGTACACATATATATACACATA TATGTGTACACATATATATACACATATATGTGTACACATATATATACACA TATATGTGTACACATATATATACACATATATGTGTACACATATATATACA CATATATGTGTACACATATATATACACATATATATGTACACATATATATA CACATATATGTGTACACATATATATAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	418	0.0024	226	c.167 others(243): Show c.1678-382_1678-381insGTGTACACATATATATACACATATATGT GTACACATATATATACACATATATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATATGTACACATATATATACACATATATGTGTACACATATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAT others(219): Show ACACACATATATATTATATATATATTATATATATATTATATATATATTAT ATATATATATTATATATATATTATATATATATATTATATATATATTATAT ATATATTATATATATATATTATATATATATTATATATATATTATATATAT ATTATATATATATTATATATATATTATATATATATTATATATATATTATA TATATAATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0146	1	184	0.0054	226	c.912 others(245): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATAATATATATATAATATATATATAATATATATATATAATATA TATATAATATATATATAATATATATATATAATATATATATAATATATATA TATAATATATATATAATATATATATAATATATATATAATATATATGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GTPBP6_chrX_299759_323796	323692	G G	GTGTGTGT others(219): Show GTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCC TGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACG TTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTC CTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCG TCCCCAGGTGGTGAGCTCAGGGACGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	155	0.0065	226	c.-49 others(237): Show c.-4906_-4905insAACGTCCCTGAGCTCACCACCTGGGGACGCCCTC ATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTG ACGGCTACACACACACACACACACACACACACACACACACAAACGTCCCT GAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGA CGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4897		chrX	TogoVar
HCN2_chr19_584881_622159	602167	T T	TCTCCTGC others(219): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20300.hp1 HG02258.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0002c0010 a0001c0018 a0002c0010	a0001c0018t0020 a0002c0010t0001 a0001c0018t0020 a0002c0010t0001	a0001c0018t0020g0058 a0002c0010t0001g0363 a0001c0018t0020g0058 a0002c0010t0001g0363	2	408	0.0049	226	c.633 others(243): Show c.633-1257_633-1256insTCCTCCTCTCCTGCGTGGACGCCCCACT TCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602189	C C	CCCTCCTC others(219): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03831.hp2 HG04199.hp2 HG00099.hp2 HG03831.hp2 HG04199.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0004 a0010c0069 a0001c0001 a0002c0004 a0010c0069	a0001c0001t0021 a0002c0004t0001 a0010c0069t0001 a0001c0001t0021 a0002c0004t0001 a0010c0069t0001	a0001c0001t0021g0217 a0002c0004t0001g0299 a0010c0069t0001g0307 a0001c0001t0021g0217 a0002c0004t0001g0299 a0010c0069t0001g0307	3	408	0.0074	226	c.633 others(243): Show c.633-1322_633-1097dupCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33323520	G G	GTGGAATA others(219): Show GTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAAT ATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0106	1	323	0.0031	226	c.-15 others(237): Show c.-1536_-1535insTGGAATATATATATATGGAATATATATGTGGAAT ATATATATATGGAATATATATGTGGAATATATATATATGGAATATATATG TGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAATA TATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATAT GGAATATATATGTGGAATATATATATATGGAATATATGTGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1449		chr21	TogoVar
INPP5F_chr10_119721050_119834147	119722536	G G	GGAGCCCC others(219): Show GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGG TCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCGGCCCCTACTGGGAAGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA19007.hp1 HG04115.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0314 a0001c0003t0003g0315 a0001c0003t0003g0314 a0001c0003t0003g0315	2	328	0.0061	226	c.-37 others(237): Show c.-3727_-3726insGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGCGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGA GGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAA	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding		3513		chr10	TogoVar
IRAG2_chr12_25047706_25113335	25106551	T T	TACAGTAG others(219): Show TACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAAG CAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCTC CCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCACA CACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTAA CTATTAGGATTAAAGAAATGCATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02738.hp1 HG01361.hp2 HG02738.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0190 a0004c0004t0001g0209 a0004c0004t0001g0190 a0004c0004t0001g0209	2	344	0.0058	226	c.114 others(243): Show c.1149-392_1149-391insACAGTAGTGCAACCATAGCTCACTACAG CCTCCAACTCCAGGGCTCAAGCAATCCCTGGAGTCCTGAGATCCTTGGGA GGAATCCCCTTTCTTGGCCTCCCAAAGTGCTGAGATTAAAGTGTTTAATA AAGTATGGTTAAACATGCACACACACACACATATATAGTTTTGGAAACAA TCTGCCTCCCACCCTTTGTAACTATTAGGATTAAAGAAATGCATATAC	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21			chr12	TogoVar
ISYNA1_chr19_18429388_18443133	18442165	A A	ACCACACA others(219): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACCCACCCCAAC ACACACCACACACCCCACACTGCACACACCAACACACACCCTCACACCAC ACACCAACACACACCACACCCACACCACACATAACAAACCACACCCACAC CCAACACACATACCACATCCACACATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03041.hp2 NA18906.hp2 HG02886.hp1 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0012	3	308	0.0097	226	c.-40 others(237): Show c.-4083_-4082insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTGTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGT GAGGGTGTGTGTTGGTGTGTGCAGTGTGGGGTGTGTGGTGTGTGTTGGGG TGGGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGT GGGTGTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4033		chr19	TogoVar
ISYNA1_chr19_18429388_18443133	18442165	A A	ACCACACA others(219): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACCCACCCCAAC ACACACCACACACCCCACACTGCACACCCCAACACACCACACCCTCACAC CACACACCAACACACACCACACCCACACCACACATAAACCACACCCACAC CCAACACACATACCACATCCACACATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01081.hp1 others(42): Show HG00323.hp2 HG00733.hp2 HG01081.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 NA18948.hp1 NA18957.hp2 NA18971.hp2 NA19011.hp1 NA19043.hp1 NA19058.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0003 a0001c0002t0001g0011 a0001c0002t0001g0029 others(1): Show a0001c0002t0001g0003 a0001c0002t0001g0011 a0001c0002t0001g0029 a0001c0002t0004g0006	45	308	0.1461	226	c.-40 others(237): Show c.-4083_-4082insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGAG GGTGTGGTGTGTTGGGGTGTGCAGTGTGGGGTGTGTGGTGTGTGTTGGGG TGGGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGT GGGTGTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4033		chr19	TogoVar
ISYNA1_chr19_18429388_18443133	18442165	A A	ACCACACA others(219): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCCAACACACACCACACCCACCCCAA CACACACCACACACCCCACACTGCACACCCCAACACACCACACCCTCACA CCACACACCAACACACACCACACCCACACCACACATAAACCACACCCACA CCCAACACACATACCACACCACACATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	308	0.0033	226	c.-40 others(237): Show c.-4083_-4082insGATGTGTGGTGTGGTATGTGTGTTGGGTGTGGGT GTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGAGG GTGTGGTGTGTTGGGGTGTGCAGTGTGGGGTGTGTGGTGTGTGTTGGGGT GGGTGTGGTGTGTGTTGGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGT GGGTGTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4033		chr19	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(219): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 NA18947.hp1 HG03225.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0031 a0001c0002t0002g0016 a0001c0001t0002g0031 a0001c0002t0002g0016	2	426	0.0047	226	c.-86 others(235): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(219): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATATGTATGTGTATATATATACACATACATATTATA TATATGTGTGTGTATATATATACACACACATATTATATATATGTGTGTGT ATATATATACACATACATATTATATAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG01258.hp1 others(4): Show HG00741.hp2 HG01243.hp1 HG01258.hp1 HG02056.hp1 NA18971.hp2 NA19080.hp1 NA19081.hp2	a0005 a0009 a0005 a0009	a0005c0006 a0009c0014 a0005c0006 a0009c0014	a0005c0006t0001 a0009c0014t0001 a0005c0006t0001 a0009c0014t0001	a0005c0006t0001g0013 a0005c0006t0001g0058 a0005c0006t0001g0059 others(4): Show a0005c0006t0001g0013 a0005c0006t0001g0058 a0005c0006t0001g0059 a0005c0006t0001g0064 a0005c0006t0001g0085 a0009c0014t0001g0018 a0009c0014t0001g0043	7	152	0.0461	226	c.160 others(245): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATATGTATGTGTATATATATACACATACATATTATAT ATATGTGTGTGTATATATATACACACACATATTATATATATGTGTGTGTA TATATATACACATACATATTATATAATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNH7_chr2_162366407_162843767	162752903	A A	AAAAAAGA others(219): Show AAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	100	0.0100	226	c.307 others(245): Show c.307+83633_307+83634insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(219): Show GATATATATATATCCAAGAGGATATATATATATACACAAGAGGATATATA TATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	232	0.0043	226	c.-67 others(245): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATACACAA GAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(219): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATATCCAAGAGGATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	232	0.0043	226	c.-67 others(245): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(219): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	232	0.0043	226	c.-67 others(245): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(219): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCACTCACCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0107 a0001c0001t0154g0107	1	398	0.0025	226	c.64+ others(243): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112514853	G G	GGGGGGGT others(219): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCC GGCCAGCCCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00735.hp2 others(73): Show HG00323.hp2 HG00639.hp1 HG00735.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03704.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18985.hp1 NA18987.hp2 NA18991.hp2 NA19003.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19081.hp1 NA19087.hp1 NA20905.hp2 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0005c0009 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0061 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0002t0022 a0001c0002t0023 a0001c0002t0054 a0001c0007t0002 a0005c0009t0001 a0006c0011t0003	a0001c0001t0001g0118 a0001c0001t0001g0194 a0001c0001t0001g0195 others(73): Show a0001c0001t0001g0118 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0002g0122 a0001c0001t0002g0200 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0251 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0003g0204 a0001c0001t0003g0233 a0001c0001t0003g0237 a0001c0001t0003g0241 a0001c0001t0003g0246 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0005g0275 a0001c0001t0008g0201 a0001c0001t0008g0203 a0001c0001t0009g0225 a0001c0001t0013g0257 a0001c0001t0013g0260 a0001c0001t0013g0262 a0001c0001t0019g0215 a0001c0001t0029g0253 a0001c0001t0033g0117 a0001c0001t0034g0222 a0001c0001t0035g0224 a0001c0001t0038g0227 a0001c0001t0040g0119 a0001c0001t0042g0239 a0001c0001t0044g0214 a0001c0001t0061g0207 a0001c0001t0065g0277 a0001c0001t0067g0218 a0001c0001t0068g0249 a0001c0002t0022g0008 a0001c0002t0022g0009 a0001c0002t0023g0007 a0001c0002t0054g0248 a0001c0007t0002g0274 a0005c0009t0001g0176 a0006c0011t0003g0268	76	308	0.2468	226	c.-25 others(245): Show c.-25+27741_-25+27742insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCACCCGGCCAGCCCCCCGTCCGGGAGGGAGGTGGGGGG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF17_chr1_20659014_20723007	20712850	A A	ATTTATAT others(219): Show ATTTATATCTATAATATAGATATAGATATTATCTATATCTATAATATAGA TAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATAT TATAGATATTATCTATATATAATATAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0159 a0001c0005t0002g0159	1	414	0.0024	226	c.480 others(241): Show c.480+603_480+604insCTATATTATATATAGATAATATCTATAATA TAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATA GATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATAT TATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCT ATATTATAGATATAGATAATATCTATATCTATATTATAGATATAAA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(219): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGC GGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0035 a0002c0002t0052g0035	1	375	0.0027	226	c.317 others(243): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87739088	C C	CCTCATCC others(219): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCACCACCTC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCC ACACACCAGCACCTCATCCATCCACACACCAGCATTTCATCCACACACCA GCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0309 a0003c0003t0002g0309	1	380	0.0026	226	c.507 others(243): Show c.507-8445_507-8444insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAAATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGGTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739088	C C	CCTCATCC others(219): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCC ACACACCAGCACCTCATCCATCCACACACCAGCATTTCATCCACACACCA GCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(16): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01361.hp2 HG02257.hp1 HG02602.hp1 HG02738.hp2 HG03490.hp1 HG03704.hp1 HG06807.hp1 NA18940.hp1 NA19009.hp1 NA19074.hp2 NA19085.hp1	a0003 a0006 a0024 a0003 a0006 a0024	a0003c0003 a0003c0030 a0006c0006 others(1): Show a0003c0003 a0003c0030 a0006c0006 a0024c0029	a0003c0003t0001 a0003c0003t0002 a0003c0030t0001 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0030t0001 a0006c0006t0001 a0024c0029t0001	a0003c0003t0001g0308 a0003c0003t0001g0310 a0003c0003t0001g0311 others(16): Show a0003c0003t0001g0308 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0320 a0003c0003t0001g0321 a0003c0003t0002g0024 a0003c0003t0002g0305 a0003c0003t0002g0306 a0003c0003t0002g0307 a0003c0003t0002g0313 a0003c0003t0002g0331 a0003c0030t0001g0319 a0006c0006t0001g0005 a0006c0006t0001g0096 a0006c0006t0001g0198 a0024c0029t0001g0025	19	380	0.0500	226	c.507 others(243): Show c.507-8445_507-8444insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAAATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLRB1_chr12_9589551_9612916	9592709	T T	TTATATAT others(219): Show TTATATATATATACATATATATATACATATATATACATATATATACATAT ATATATACATATATATACATATATATACATATATATATACATATATATAC ATATATATACATATATACATATATATATACACATATATACACATATATAT ACATATATATACACATATATATACATATATATACATATATATACACATAT ATATATATACATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0003 a0007c0004t0003	a0007c0004t0003g0062 a0007c0004t0003g0062	1	436	0.0023	226	c.25 others(237): Show c.2564_*2565insTATATATATATATATATGTATATATATATATGTG TATATATATGTATATATATGTATATATATGTGTATATATATGTATATATA TGTGTATATATGTGTATATATATATGTATATATGTATATATATGTATATA TATGTATATATATATGTATATATATGTATATATATGTATATATATATGTA TATATATGTATATATATGTATATATATATGTATATATATATA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding		1841		chr12	TogoVar
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAATG others(219): Show AGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGG GAGAGATGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGG AAACAGGGAGGAGGGAGAGGTGATGAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0111 a0001c0002t0028g0111	1	368	0.0027	226	c.353 others(241): Show c.353-938_353-937insTGGAGGAGGGAGAGGTGATGAAGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGATGATGATGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(219): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0285 a0001c0001t0011g0285	1	296	0.0034	226	c.368 others(243): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC7_chr1_69562922_70149364	69857519	A A	AAGAGAAT others(219): Show AAGAGAATAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG GTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAA AAAAAAAAAAAAAAAAAAGAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0040 a0001c0001t0027g0040	1	108	0.0093	226	c.647 others(245): Show c.647+19247_647+19248insAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAGAGAATAAAA	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
LUC7L_chr16_183990_234449	186884	G G	GGGAACAG others(219): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGA CACGGGGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	350	0.0029	226	c.23 others(237): Show c.2313_*2314insTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2105		chr16	TogoVar
MAGI3_chr1_113385515_113690923	113416138	A A	AATTATGT others(219): Show AATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATT ATTATGTGTAATTAATGACACATATTATTATGTGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18992.hp2 HG02559.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0002g0161 a0001c0001t0001g0143 a0001c0001t0002g0161	2	236	0.0085	226	c.316 others(245): Show c.316+24814_316+24815insATTATGTAATTAATGACACATATTAT TATGTGTAATTAATGACACATATTATTATGTGTAATTAATGACACATATT AATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATT AATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATATT AATTATGTAATTAATGACACATATTATTATGTAATTAATGACACATATTA	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K13_chr3_185358136_185494094	185453828	T T	TATATATG others(219): Show TATATATGATACATATATATGAGATATATATGTGATACATATATATGAGA TATATATGTGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGTGATACATATATATGAGATATATATGTGATACATATATGA GATATATATGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGTGATACATATATATGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0212 a0001c0001t0016g0212	1	278	0.0036	226	c.127 others(245): Show c.1278+2439_1278+2440insGATACATATATATGAGATATATATGT GATACATATATATGAGATATATATGTGATACATATATATGAGATATATAT GTGATACATATATATGAGATATATATGTGATACATATATATGAGATATAT ATGTGATACATATATGAGATATATATGATACATATATATGAGATATATAT GTGATACATATATATGAGATATATATGTGATACATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(219): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG02080.hp1 others(16): Show HG00639.hp1 HG00741.hp2 HG02080.hp1 HG02132.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02723.hp1 HG02735.hp1 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 others(9): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0015 a0002c0003t0001 a0002c0004t0003	a0001c0001t0001g0036 a0001c0001t0001g0078 a0001c0001t0001g0085 others(16): Show a0001c0001t0001g0036 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0013g0018 a0001c0001t0017g0039 a0001c0001t0019g0067 a0001c0001t0022g0040 a0001c0001t0024g0025 a0001c0002t0002g0011 a0001c0002t0002g0054 a0001c0002t0002g0062 a0001c0002t0002g0094 a0001c0002t0003g0004 a0001c0002t0003g0060 a0001c0002t0003g0096 a0001c0002t0011g0013 a0001c0002t0015g0012 a0002c0003t0001g0002 a0002c0004t0003g0086	19	102	0.1863	226	c.111 others(245): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGCGCGATCT CCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MBTPS1_chr16_84048763_84121942	84051504	C C	CCGCATGT others(219): Show CCGCATGTGAGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCT GCAAGGCCCACATGTGGGTAAGGAGAGTGGCAAGGCCCGCATGTGGGTAA GGAGAGCTACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATG TGGGTAAGGAGAGCTGCAAGGCCCCATGTGGGTAAGGAGAGCTGCAAGGC CGTATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0242 a0001c0001t0039g0242	1	424	0.0024	226	c.29 others(237): Show c.2944_*2945insCCTTGCAGCTCTCCTTACCCACATACGGCCTTGC AGCTCTCCTTACCCACATGGGGCCTTGCAGCTCTCCTTACCCACATGCGG CCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTTACCCA CATGCGGGCCTTGCCACTCTCCTTACCCACATGTGGGCCTTGCAGCTCTC CTTACCCACATGCGGCCTTGCAGCTCTCCTTACTCACATGCG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2258		chr16	TogoVar
MCTP2_chr15_94226561_94488952	94243318	T T	TATATGCG others(219): Show TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTA TGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCG TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTATATGCGTATGTACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	276	0.0036	226	c.-66 others(245): Show c.-66+11655_-66+11656insTATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACA CATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCG TATGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
METRNL_chr17_83074609_83100122	83090391	A A	ACACACAC others(219): Show ACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCC CGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCA CACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACAC ACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCC AGGGTGGGAGCCACACACACACCCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0168 a0003c0006t0002g0168	1	399	0.0025	226	c.557 others(243): Show c.557-2769_557-2768insCCCGCCCCACACACACACCCCCCGCCCC ACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACAC ACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACCCC CGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCCACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(219): Show ACCCCCGCCCCACACACACACACCCCCCGCCCCGCCCCAGGGTGGGAGCC ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCA CACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACCCCCCGCCCCACACAC ACACACACCCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	399	0.0025	226	c.557 others(243): Show c.557-2656_557-2655insCGCCCCGCCCCAGGGTGGGAGCCACACA CCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACAC ACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACC CCCCGCCCCAGGGTGGGAGCCACACACACCCCCCGCCCCACACACACACA CACCCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(219): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	181	0.0055	226	c.107 others(245): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(219): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03710.hp1 HG01168.hp2 HG03710.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0007 a0002c0003 a0003c0007	a0002c0003t0002 a0003c0007t0002 a0002c0003t0002 a0003c0007t0002	a0002c0003t0002g0163 a0003c0007t0002g0131 a0002c0003t0002g0163 a0003c0007t0002g0131	2	181	0.0111	226	c.107 others(245): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTCTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar

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