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
GOLGA3_chr12_132763914_132833869	132776188	C C	CTCCTTCC others(472): Show CTCCTTCCTGCCCTGCTGCTCCCGCCTGTGTCCAGTGCCTCATACACAGG TACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTCCCTGCTGCTC CCGCCTGTGTCCAGCACCTCATACACAGGTACCTGCAGCAGCTGCTGTAG CCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTGTCCAGCACCTC ATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTGC CCTGCTGCTCCCGCCTGTACCCAGCGCCTCATACACAGGTACCTGCAGCA GCTGCTGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTGC CCAGCGCCTCAGATACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGC TCCTTCCTGCCCTGCTGCTCCCGCCTGTGCCCAGCGCCTCATACACAGGT ACCTGCAGCAGCTGCTGTAGCCCCTCCAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0182 a0001c0001t0029g0182	1	306	0.0033	479	c.397 others(496): Show c.3978+445_3978+446insACTGGAGGGGCTACAGCAGCTGCTGCAG GTACCTGTGTATGAGGCGCTGGGCACAGGCGGGAGCAGCAGGGCAGGAAG GAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGTATCTGAGGCGCT GGGCACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGGGGCTACAGCA GCTGCTGCAGGTACCTGTGTATGAGGCGCTGGGTACAGGCGGGAGCAGCA GGGCAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGTGT ATGAGGTGCTGGACACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGG GGCTACAGCAGCTGCTGCAGGTACCTGTGTATGAGGTGCTGGACACAGGC GGGAGCAGCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGG TACCTGTGTATGAGGCACTGGACACAGGCGGGAGCAGCAGGGCAGGAAGG A	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	21/23			chr12	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(472): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0042 a0001c0001t0029g0042	1	128	0.0078	479	c.109 others(498): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(472): Show TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTATTAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATGTAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGT TAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0165 a0002c0002t0009g0165	1	134	0.0075	479	c.-28 others(490): Show c.-2852_-2851insAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTATTAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATGTAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATATAGTTAGTATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GSE1_chr16_85608322_85681200	85653187	G G	GCCCCCCT others(472): Show GCCCCCCTCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCCTCCCCCCCCCCTCCCCCC TCCCCCCCCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCCCTCCCCCCCC CTCCCCCCCTCCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCC TCCCCCCCCTCCCCCCCTCCCCCTCCTCCCCCCTCCTGCCCCCTCCTCCC CCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCT CCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	270	0.0037	479	c.427 others(496): Show c.427-1079_427-1078insTCCCCCCCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCCTCCCCCCCC CCTCCCCCCTCCCCCCCCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCCC TCCCCCCCCCTCCCCCCCTCCCCCCCCCTCCCCCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCCCTCCT CCCCCCTCCTCCCCCCCCTCCCCCCCTCCCCCTCCTCCCCCCTCCTGCCC CCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCC TCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC C	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ICA1_chr7_8108184_8267167	8152561	C C	CACCACCA others(472): Show CACCACCACCACATCTCCTTCACCACCACTACCCCCAGCACTACCACCAT CACCTCTTCCACCACTACCATCATCTCCTCCACCACCACTACCACCACCA CCACCATCTCCTTCACCACCACTACCCCCACCACTATCACCATCACCATC ACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTAC CACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCA CCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACC ATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCAT CACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCA CCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCTTCC ACCACTACCACCATCTCCTCCACCACCACT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	255	0.0039	479	c.804 others(496): Show c.804+4554_804+4555insAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTG ATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGT GGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAG GTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGT GGTGGTGGTGGTAGTGGTGGTGGAGGAGATGATGGTAGTGGTGGAAGAGG TGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGTGGTGGTGG T	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IRAG2_chr12_25047706_25113335	25077275	G G	GATATATA others(472): Show GATATATATGAAATATATATATGATATATATGATATATATATGATATATA TGAAATATATATATGATATATATGATATATATATGATATATATGAAATAT ATATATGATATATATGTGAAATATATATATGATATATATGTGAAATATAT ATATGATATATATGTGAAATATATATATGATATATATGTGAAATATATAT ATGATATATATGTGAAATATATATATGATATATATGTGAAATATATATAT GATATATATGTGAAATATATATATGATATATATGTGAAATATATATATGA TATATATGTGAAATATATATATGATATATATGTGAAATATATATATGATA TATATGTGAAATATATATATGATATATATGTGAAATATATATATGATATA TATGTGAAATATATATATGATATATATGTGAAATATATATATGATATATA TGTGAAATATATATATGATATATATGTGAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	342	0.0029	479	c.25- others(494): Show c.25-1968_25-1967insTATATATGAAATATATATATGATATATATG ATATATATATGATATATATGAAATATATATATGATATATATGATATATAT ATGATATATATGAAATATATATATGATATATATGTGAAATATATATATGA TATATATGTGAAATATATATATGATATATATGTGAAATATATATATGATA TATATGTGAAATATATATATGATATATATGTGAAATATATATATGATATA TATGTGAAATATATATATGATATATATGTGAAATATATATATGATATATA TGTGAAATATATATATGATATATATGTGAAATATATATATGATATATATG TGAAATATATATATGATATATATGTGAAATATATATATGATATATATGTG AAATATATATATGATATATATGTGAAATATATATATGATATATATGTGAA ATATATATATGATATATATGTGAAATATATATATGATATATATGTGAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(472): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCCTCCCC CTCTCTCCCCCTCCCCCTCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTC TCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCC CCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTT CCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCCC CCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0119 a0004c0011t0001g0119	1	56	0.0179	479	c.11 others(500): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCTCCCCCATCCCCTCC CCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCC CCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCC TCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCT CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCC CCCCCCCCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCC CCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(472): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCC TCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTC TCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCC CCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTT CCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTC CCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02015.hp2 HG02165.hp1 others(7): Show HG00099.hp2 HG02015.hp2 HG02165.hp1 HG03017.hp2 HG03834.hp2 NA18954.hp1 NA18960.hp1 NA18966.hp2 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0013 a0002c0026 a0003c0002 others(4): Show a0001c0013 a0002c0026 a0003c0002 a0003c0003 a0003c0038 a0004c0007 a0004c0027	a0001c0013t0015 a0002c0026t0001 a0003c0002t0001 others(4): Show a0001c0013t0015 a0002c0026t0001 a0003c0002t0001 a0003c0003t0001 a0003c0038t0001 a0004c0007t0001 a0004c0027t0001	a0001c0013t0015g0148 a0002c0026t0001g0106 a0003c0002t0001g0110 others(7): Show a0001c0013t0015g0148 a0002c0026t0001g0106 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0114 a0003c0003t0001g0063 a0003c0003t0001g0076 a0003c0038t0001g0024 a0004c0007t0001g0123 a0004c0027t0001g0066	10	65	0.1538	479	c.11 others(500): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCC CCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCC CCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCC TCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCT CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCC CCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCC CCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(472): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGA TAATATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATA TAGATATTATCTATATTATAGATAATATCTATAATATAGATATAGATATT ATCTATATCTATAATATAGATAATATTATCTATATTATAGATATAGATAA TATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAG ATAATATTATCTATATATAGATAATATTATCTATATCTATAATATAGATA ATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATA GATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAA TATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCT ATAATATAGATAATATTATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0363 a0008c0012t0001g0363	1	242	0.0041	479	c.480 others(494): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATAT TATCTATATTATAGATATAGATAATATTATCTATATATAGATAATATTAT CTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATA TTATCTATATCTATAATATAGATAATATTATCTATATTATAGATATAGAT AATATCTATATCTATATTATAGATATTATCTATAATATAGATAATATCTA TATTATAGATATTATCTATAATATAGATAATATCTATATTATAGATATTA TCTATAATATAGATATAGATAATATCTATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KREMEN1_chr22_29068035_29151820	29120084	T T	TGGAGGAG others(472): Show TGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGG AGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAA TGGAGGAGGGAGAGGTGATGATGGAAACAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02602.hp1 HG03927.hp1 others(1): Show HG01261.hp2 HG02602.hp1 HG03927.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 a0001c0001t0004 a0001c0001t0016 a0001c0001t0021	a0001c0001t0004g0263 a0001c0001t0016g0264 a0001c0001t0016g0266 others(1): Show a0001c0001t0004g0263 a0001c0001t0016g0264 a0001c0001t0016g0266 a0001c0001t0021g0269	4	109	0.0367	479	c.353 others(496): Show c.353-1247_353-1246insCAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAG GGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACA GGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATG GAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTG ATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGA GAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAG GAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAA A	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHPP_chr10_124456823_124619141	124471507	T T	TATTTTAT others(472): Show TATTTTATATATATTTATATATATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATTTATATATATTTATGTATATTTATATATATTTAT ATATTTATGTATATATTTATATATATTTATATATTTATGTATATATTTAT ATATATTTATATGTATTTATATATATATTTATATGTATTTATATATATTT ATATATTTATGTGTATTTATACATATATATTTATATGTATTTATATATAT TTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	213	0.0047	479	c.125 others(496): Show c.125+9520_125+9521insATTTTATATATATTTATATATATATAAA TTTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATAT TTTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTA TATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATA TATATATTTATATATATTTATGTATATTTATATATATTTATATATATTTA TGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATGTATTTATATATATATT TATATGTATTTATATATATTTATATATTTATGTGTATTTATACATATATA TTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATTT A	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088874	T T	TGGCCAGA others(472): Show TGGCCAGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATC TGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGA GGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATC TGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGA GGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTC TGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGGGAGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	49	0.0204	479	c.-46 others(490): Show c.-4656_-4655insTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGACC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTTCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCT TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCTTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCTGGCC	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4477		chr20	TogoVar
MAEA_chr4_1284891_1345137	1317139	G G	GCAGGCCC others(472): Show GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGC AGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAG CCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCA GACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAG GCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACT CACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	337	0.0030	479	c.456 others(496): Show c.456+1574_456+1575insCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCA GGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC C	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(472): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATGTA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp2 HG02280.hp1 others(6): Show HG01074.hp2 HG01256.hp2 HG02280.hp1 HG02572.hp2 HG02717.hp1 HG03098.hp1 HG03579.hp1 NA18988.hp1 NA19088.hp1	a0002 a0009 a0020 others(4): Show a0002 a0009 a0020 a0035 a0049 a0056 a0062	a0002c0004 a0002c0005 a0009c0040 others(5): Show a0002c0004 a0002c0005 a0009c0040 a0020c0089 a0035c0053 a0049c0091 a0056c0090 a0062c0085	a0002c0004t0001 a0002c0005t0001 a0009c0040t0002 others(5): Show a0002c0004t0001 a0002c0005t0001 a0009c0040t0002 a0020c0089t0001 a0035c0053t0001 a0049c0091t0001 a0056c0090t0001 a0062c0085t0001	a0002c0004t0001g0009 a0002c0005t0001g0114 a0002c0005t0001g0115 others(6): Show a0002c0004t0001g0009 a0002c0005t0001g0114 a0002c0005t0001g0115 a0009c0040t0002g0067 a0020c0089t0001g0017 a0035c0053t0001g0117 a0049c0091t0001g0105 a0056c0090t0001g0015 a0062c0085t0001g0013	9	16	0.5625	479	c.342 others(498): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT GTATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATA TAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(472): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATGATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATGTA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04228.hp1 HG03704.hp2 HG04228.hp1	a0075 a0076 a0075 a0076	a0075c0100 a0076c0034 a0075c0100 a0076c0034	a0075c0100t0001 a0076c0034t0003 a0075c0100t0001 a0076c0034t0003	a0075c0100t0001g0042 a0076c0034t0003g0112 a0075c0100t0001g0042 a0076c0034t0003g0112	2	9	0.2222	479	c.342 others(498): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATGATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT GTATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATA TAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(472): Show ATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATGTA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATATAACTATAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0028 a0028	a0028c0079 a0028c0079	a0028c0079t0001 a0028c0079t0001	a0028c0079t0001g0144 a0028c0079t0001g0144	1	8	0.1250	479	c.342 others(498): Show c.3420-8498_3420-8497insAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT GTATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATATAACTATAATTTATATAAATATATAACTATAATTTATATAAATA TAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGMT_chr10_129462241_129775983	129518497	G G	GCCCCTCC others(472): Show GCCCCTCCTCCCTCCCTTCCCCTGCCCCTCCTCCCCTCCCTTCCCGCTCC CCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCCTTCCCCCCCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTC CCCCTCCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCCTT CCCCCTGCCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTT CCCGCTCCCCCTCCTCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTC CCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTC CCCCTCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	115	0.0087	479	c.-12 others(498): Show c.-12-17733_-12-17732insTCCCTTCCCCTGCCCCTCCTCCCCTC CCTTCCCGCTCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCC CCTTCCCCCCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCC TCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCC TCCCCTCCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCCCGCTCCCCCTC CTCCCCTCCCTTCCCGCTCCCCCTCCTCCCTCCCTTCCCCCTCCCCCTCC TCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCC TCCCCTCCCTTCCCCCTCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICALL2_chr7_1429359_1464470	1446190	A A	AGAGGGAG others(472): Show AGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGA GGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGG CGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GGAGGGGGGAGGAGGGAGAGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp1 HG02015.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	247	0.0081	479	c.641 others(494): Show c.641+522_641+523insCTCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCT ACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446190	A A	AGAGGGAG others(472): Show AGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGA GGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGG CGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GGAGGGGGGAGGAGGGAGAGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	246	0.0041	479	c.641 others(494): Show c.641+522_641+523insCTCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCT ACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(472): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCG ATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGGCGATGGTGGTGGTGGTGG TGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGG TGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0085 a0003c0003t0005g0085	1	4	0.2500	479	c.160 others(496): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCACCATCGCCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACC ATCGCCGCCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCA CCACCACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCACC A	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NACC2_chr9_136001537_136100289	136074427	C C	CGGGCGAC others(472): Show CGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTAGC CAGGCATGGTGGGACACACCTGTCATTCCAGCTACTTGGGAGGCTGAGGG AGGAGGATCCCTTGAGCCTAGGAATTCGAGGCTGCAGTGAGCTATGATCC CACCACCACACTCTAGCCTGGGGCCACAAAGCAAGACCCTGTCTCAAAAA AAAAAAAAAAAAGAAAAGAAAACAGTTCGGGCACGGTGGCTCACGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGA ACAAGACCATATTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0095 a0001c0016t0095	a0001c0016t0095g0254 a0001c0016t0095g0254	1	301	0.0033	479	c.-60 others(498): Show c.-60+20761_-60+20762insAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAATATGGTC TTGTTCTCCTGACCTCATGATCCACCCGCCTTGGCCTTCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGAACTGTTTTCTTTTCTTTTTTTT TTTTTTTTTGAGACAGGGTCTTGCTTTGTGGCCCCAGGCTAGAGTGTGGT GGTGGGATCATAGCTCACTGCAGCCTCGAATTCCTAGGCTCAAGGGATCC TCCTCCCTCAGCCTCCCAAGTAGCTGGAATGACAGGTGTGTCCCACCATG CCTGGCTAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG CCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074427	C C	CGGGCGAC others(472): Show CGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAATTAGCC AGGCATGGTGGGACACACCTGTCATTCCAGCTACTTGGGAGGCTGAGGGA GGAGGATCCCTTGAGCCTAGGAATTCGAGGCTGCAGTGAGCTATGATCCC ACCACCACACTCTAGCCTGGGGCCACAAAGCAAGACCCTGTCTCAAAAAA AAAAAAAAAAAAGAAAAGAAAACAGTTCGGGCACGGTGGCTCACGCCTGT AATCCCAACACTTTGGAAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGA ACAAGACCATATTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp2 HG02615.hp1 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0025 a0003c0015t0010 a0001c0001t0025 a0003c0015t0010	a0001c0001t0025g0033 a0003c0015t0010g0002 a0001c0001t0025g0033 a0003c0015t0010g0002	2	302	0.0066	479	c.-60 others(498): Show c.-60+20761_-60+20762insAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAATATGGTC TTGTTCTCCTGACCTCATGATCCACCCGCCTTGGCCTTCCAAAGTGTTGG GATTACAGGCGTGAGCCACCGTGCCCGAACTGTTTTCTTTTCTTTTTTTT TTTTTTTTTTGAGACAGGGTCTTGCTTTGTGGCCCCAGGCTAGAGTGTGG TGGTGGGATCATAGCTCACTGCAGCCTCGAATTCCTAGGCTCAAGGGATC CTCCTCCCTCAGCCTCCCAAGTAGCTGGAATGACAGGTGTGTCCCACCAT GCCTGGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG CCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074427	C C	CGGGCGAC others(472): Show CGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAATTAGCC AGGCATGGTGGGACACACCTGTCATTCCAGCTACTTGGGAGGCTGAGGGA GGAGGATCCCTTGAGCCTAGGAATTCGAGGCTGCAGTGAGCTATGATCCC ACCACCACACTCTAGCCTGGGGCCACAAAGCAAGACCCTGTCTCAAAAAA AAAAAAAAAAAAGAAAAGAAAACAGTTCGGGCACGGTGGCTCACGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGA ACAAGACCATATTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02258.hp1 others(16): Show HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(11): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0017 a0001c0023 a0001c0024 a0001c0037 a0001c0041 a0001c0043 a0002c0006 a0002c0038 a0002c0040 a0003c0015	a0001c0001t0009 a0001c0001t0098 a0001c0003t0005 others(15): Show a0001c0001t0009 a0001c0001t0098 a0001c0003t0005 a0001c0003t0014 a0001c0003t0085 a0001c0005t0002 a0001c0007t0042 a0001c0017t0019 a0001c0023t0080 a0001c0024t0009 a0001c0024t0014 a0001c0037t0050 a0001c0041t0006 a0001c0043t0002 a0002c0006t0054 a0002c0038t0062 a0002c0040t0055 a0003c0015t0010	a0001c0001t0009g0008 a0001c0001t0098g0010 a0001c0003t0005g0009 others(16): Show a0001c0001t0009g0008 a0001c0001t0098g0010 a0001c0003t0005g0009 a0001c0003t0014g0007 a0001c0003t0014g0012 a0001c0003t0085g0014 a0001c0005t0002g0057 a0001c0007t0042g0058 a0001c0017t0019g0011 a0001c0023t0080g0054 a0001c0024t0009g0013 a0001c0024t0014g0044 a0001c0037t0050g0047 a0001c0041t0006g0045 a0001c0043t0002g0053 a0002c0006t0054g0242 a0002c0038t0062g0055 a0002c0040t0055g0056 a0003c0015t0010g0049	19	319	0.0596	479	c.-60 others(498): Show c.-60+20761_-60+20762insAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAATATGGTC TTGTTCTCCTGACCTCATGATCCACCCGCCTTGGCCTTCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGAACTGTTTTCTTTTCTTTTTTTT TTTTTTTTTTGAGACAGGGTCTTGCTTTGTGGCCCCAGGCTAGAGTGTGG TGGTGGGATCATAGCTCACTGCAGCCTCGAATTCCTAGGCTCAAGGGATC CTCCTCCCTCAGCCTCCCAAGTAGCTGGAATGACAGGTGTGTCCCACCAT GCCTGGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG CCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074427	C C	CGGGCGAC others(472): Show CGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATTAGCCA GGCATGGTGGGACACACCTGTCATTCCAGCTACTTGGGAGGCTGAGGGAG GAGGATCCCTTGAGCCCAGGAATTCGAGGCTGCAGTGAGCTATGATCCCA CCACCACACTCTAGCCTGGGGCCACAAAGCAAGACCCTGTCTCAAAAAAA AAAAAAAAAAAAGAAAAGAAAACAGTTCGGGCACGGTGGCTCACGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGA ACAAGACCATATTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0087 a0001c0001t0041g0087	1	301	0.0033	479	c.-60 others(498): Show c.-60+20761_-60+20762insAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAATATGGTC TTGTTCTCCTGACCTCATGATCCACCCGCCTTGGCCTTCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGAACTGTTTTCTTTTCTTTTTTTT TTTTTTTTTTTGAGACAGGGTCTTGCTTTGTGGCCCCAGGCTAGAGTGTG GTGGTGGGATCATAGCTCACTGCAGCCTCGAATTCCTGGGCTCAAGGGAT CCTCCTCCCTCAGCCTCCCAAGTAGCTGGAATGACAGGTGTGTCCCACCA TGCCTGGCTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG CCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074427	C C	CGGGCGAC others(472): Show CGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATTAGCCA GGCATGGTGGGACACACCTGTCATTCCAGCTACTTGGGAGGCTGAGGGAG GAGGATCCCTTGAGCCTAGGAATTCGAGGCTGCAGTGAGCTATGATCCCA CCACCACACTCTAGCCTGGGGCCACAAAGCAAGACCCTGTCTCAAAAAAA AAAAAAAAAAAAGAAAAGAAAACAGTTCGGGCACGGTGGCTCACGCCTGT AATCCCAACACTTTGGAAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGA ACAAGACCATATTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0042 a0001c0007t0042	a0001c0007t0042g0034 a0001c0007t0042g0034	1	301	0.0033	479	c.-60 others(498): Show c.-60+20761_-60+20762insAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAATATGGTC TTGTTCTCCTGACCTCATGATCCACCCGCCTTGGCCTTCCAAAGTGTTGG GATTACAGGCGTGAGCCACCGTGCCCGAACTGTTTTCTTTTCTTTTTTTT TTTTTTTTTTTGAGACAGGGTCTTGCTTTGTGGCCCCAGGCTAGAGTGTG GTGGTGGGATCATAGCTCACTGCAGCCTCGAATTCCTAGGCTCAAGGGAT CCTCCTCCCTCAGCCTCCCAAGTAGCTGGAATGACAGGTGTGTCCCACCA TGCCTGGCTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG CCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(472): Show CAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCAT TCCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATT CGAGGCTGCAGTGAGCTATGATCCCACCACCACACTCTAGCCTGGGGCCA CAAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAAACAGT TCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGG CGGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02896.hp2 others(2): Show HG02258.hp2 HG02451.hp2 HG02896.hp2 HG03130.hp1 HG03579.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0008 a0002c0006 a0004c0032 a0001c0008 a0002c0006 a0004c0032	a0001c0008t0027 a0001c0008t0048 a0002c0006t0006 others(1): Show a0001c0008t0027 a0001c0008t0048 a0002c0006t0006 a0004c0032t0010	a0001c0008t0027g0005 a0001c0008t0048g0245 a0002c0006t0006g0060 others(2): Show a0001c0008t0027g0005 a0001c0008t0048g0245 a0002c0006t0006g0060 a0002c0006t0006g0061 a0004c0032t0010g0040	5	63	0.0794	479	c.-60 others(498): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGC TTTGTGGCCCCAGGCTAGAGTGTGGTGGTGGGATCATAGCTCACTGCAGC CTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAGC TGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTTT TTT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(472): Show CAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCAT TCCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATT CGAGGCTGCAGTGAGCTATGATCCTACCACCACACTCTAGCCTGGGGCCA CAAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAAACAGT TCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGG CGGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02738.hp2 HG02145.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0313 a0001c0002t0003g0325 a0001c0001t0001g0313 a0001c0002t0003g0325	2	60	0.0333	479	c.-60 others(498): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGC TTTGTGGCCCCAGGCTAGAGTGTGGTGGTAGGATCATAGCTCACTGCAGC CTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAGC TGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTTT TTT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(472): Show CAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATT CCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTC GAGGCTGCAGTGAGCTATGATCCCACCACCACACTCTAGCCTGGGGCCAC AAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAACAGT TCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGG CGGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02602.hp1 others(7): Show HG01891.hp1 HG02280.hp2 HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 NA18522.hp1 NA18952.hp2 NA18990.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0002c0006	a0001c0001t0001 a0001c0002t0003 a0001c0003t0009 others(6): Show a0001c0001t0001 a0001c0002t0003 a0001c0003t0009 a0001c0005t0002 a0001c0007t0020 a0001c0008t0028 a0001c0009t0022 a0001c0009t0036 a0002c0006t0052	a0001c0001t0001g0106 a0001c0002t0003g0183 a0001c0002t0003g0227 others(7): Show a0001c0001t0001g0106 a0001c0002t0003g0183 a0001c0002t0003g0227 a0001c0003t0009g0347 a0001c0005t0002g0220 a0001c0007t0020g0346 a0001c0008t0028g0345 a0001c0009t0022g0344 a0001c0009t0036g0343 a0002c0006t0052g0342	10	68	0.1471	479	c.-60 others(498): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTG CTTTGTGGCCCCAGGCTAGAGTGTGGTGGTGGGATCATAGCTCACTGCAG CCTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAG CTGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTT TTT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(472): Show CAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATTC CAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTCG AGGCTGCAGTGAGCTATGATCCCACCACCACACTCTAGCCTGGGGCCACA AAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAACAGT TCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGG CGGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00735.hp1 others(34): Show HG00280.hp2 HG00558.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01192.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01952.hp2 HG02004.hp2 HG02055.hp2 HG02074.hp2 HG02155.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG04204.hp1 NA19030.hp1 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0012 a0001c0023 a0001c0025 a0001c0039 a0001c0042 a0002c0006 a0002c0022	a0001c0001t0001 a0001c0001t0009 a0001c0001t0023 others(18): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0023 a0001c0001t0040 a0001c0002t0003 a0001c0002t0044 a0001c0003t0007 a0001c0003t0029 a0001c0004t0004 a0001c0004t0011 a0001c0005t0002 a0001c0005t0032 a0001c0008t0019 a0001c0009t0079 a0001c0012t0013 a0001c0023t0014 a0001c0025t0046 a0001c0039t0022 a0001c0042t0004 a0002c0006t0006 a0002c0022t0006	a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0158 others(34): Show a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0009g0073 a0001c0001t0023g0170 a0001c0001t0040g0184 a0001c0002t0003g0084 a0001c0002t0003g0102 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0044g0003 a0001c0002t0044g0124 a0001c0003t0007g0083 a0001c0003t0007g0176 a0001c0003t0007g0178 a0001c0003t0029g0105 a0001c0004t0004g0042 a0001c0004t0004g0071 a0001c0004t0004g0182 a0001c0004t0011g0077 a0001c0005t0002g0159 a0001c0005t0002g0211 a0001c0005t0032g0173 a0001c0008t0019g0046 a0001c0009t0079g0052 a0001c0012t0013g0171 a0001c0023t0014g0072 a0001c0025t0046g0175 a0001c0039t0022g0075 a0001c0042t0004g0074 a0002c0006t0006g0004 a0002c0006t0006g0050 a0002c0006t0006g0051 a0002c0022t0006g0078	37	95	0.3895	479	c.-60 others(498): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTT GCTTTGTGGCCCCAGGCTAGAGTGTGGTGGTGGGATCATAGCTCACTGCA GCCTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTA GCTGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTT TTT	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(472): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATTATATATATATATTATATAATATATAATATATTATATATATTA TATAATATATTGTATATTATATAATATATATTATATATAAATATATAATA TATAATATAATATATAATATATTATATATAATATATTATATATTATATAT ATTATATTATATATATTATATTATATATAATATATTATATATTATATATT TATATATAATATATATATAATATATATTATATATTATATAATATATAATA TATTATATATTATATAATATATATAATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0076 a0002c0002t0007g0076	1	202	0.0050	479	c.48+ others(494): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATTATATATATATATTATATAATATA TAATATATTATATATATTATATAATATATTGTATATTATATAATATATAT TATATATAAATATATAATATATAATATAATATATAATATATTATATATAA TATATTATATATTATATATATTATATTATATATATTATATTATATATAAT ATATTATATATTATATATTTATATATAATATATATATAATATATATTATA TATTATATAATATATAATATATTATATATTATATAATATATATAATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(472): Show TTCCATCCATCCATCCATTCTCCATCCACCCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTTCATCCATCCATCCATCCA TCCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTA TCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGT CCATCCATCCCTCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCC ATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCA TTCATTAGTTTATCCATCCTCACCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0088 a0002c0002t0088	a0002c0002t0088g0299 a0002c0002t0088g0299	1	53	0.0189	479	c.47 others(488): Show c.473_*474insTCTCCATCCACCCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTTCATCCATCCATCCATCCATCCA TCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCA TCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCAT CCATCCCTCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCC ATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCA TTAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NOC4L_chr12_132139457_132157468	132150439	C C	CGCCGCCT others(472): Show CGCCGCCTCACTCCTACCACACCCCCAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAT ACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	263	0.0038	479	c.902 others(494): Show c.902-534_902-533insACTCCTACCACACCCCCAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(472): Show TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTATTAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATGTAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGT TAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0028 a0018c0022t0028	a0018c0022t0028g0312 a0018c0022t0028g0312	1	276	0.0036	479	c.195 others(496): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTAATATAGTTACTATATATTAATATACTAACTATATTATTA ATATAGTTACTACATATTAATATACTAACTATATTATTAATATAGTTACT ATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATA TACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATA TTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATA GTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATA TTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTA ACTATATTAATAATATAGTTACTATATATTAATATACTAACTATATTATT AATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTAC T	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOS3_chr7_150986017_151019588	150995863	A A	ACACCCCT others(472): Show ACACCCCTCCTCCCTCTCCCCCATCCCACCCCTAAACCCCTCCTCCCTCT CCCCGTCCCACCCTGCACTCCCGCCCTCTCCAGCGTCCCACCCCTACACC CCTCCTCCCTCTGCCCCATTCCACCCCTGCACCCCCTCCTCCCTCTGCCC CGACCCACCCTTGCACCCCTCCTCCCTCTTCCCCCGTCCCCTGCCTGCAT TCCTCCTCCCTCTCCCCATCTCACCCCTGCACCCCTTCCCTCTCCCACCC CTGCACCCCTCCTCCCTCTCCCCGTCCCACCCTGCACTCCCGCCCTCTCC AGCGTCCCACCCCTACACCCCTCCTCCCTCTGCCCCATTCCACCCCTGCA CCCCCTCCTCCCTCTGCCCCGACCCACCCCTGCACCCCTCCTCCCTCTCC CCCGTCCCACCCCTGCATCCCTCCTCCCTCTGCCCCGTCCCACCCCTACA CCCCTCCTCCCTCTCCCCGTCCCACCCCTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0001 a0003c0037t0001	a0003c0037t0001g0248 a0003c0037t0001g0248	1	371	0.0027	479	c.271 others(494): Show c.271-488_271-487insGTCCCACCCTGCACTCCCGCCCTCTCCAGC GTCCCACCCCTACACCCCTCCTCCCTCTGCCCCATTCCACCCCTGCACCC CCTCCTCCCTCTGCCCCGACCCACCCTTGCACCCCTCCTCCCTCTTCCCC CGTCCCCTGCCTGCATTCCTCCTCCCTCTCCCCATCTCACCCCTGCACCC CTTCCCTCTCCCACCCCTGCACCCCTCCTCCCTCTCCCCGTCCCACCCTG CACTCCCGCCCTCTCCAGCGTCCCACCCCTACACCCCTCCTCCCTCTGCC CCATTCCACCCCTGCACCCCCTCCTCCCTCTGCCCCGACCCACCCCTGCA CCCCTCCTCCCTCTCCCCCGTCCCACCCCTGCATCCCTCCTCCCTCTGCC CCGTCCCACCCCTACACCCCTCCTCCCTCTCCCCGTCCCACCCCTGCACC CCTCCTCCCTCTCCCCCATCCCACCCCTAAACCCCTCCTCCCTCTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXN_chr17_794310_984776	949160	C C	CCCCCTGC others(472): Show CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCTCTCCCCCCGGCCTCCT CCTCTCCCCGGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	238	0.0042	479	c.360 others(498): Show c.360+30158_360+30159insAGAGGAGGAGGCAGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGAGAG GAGGAGGCGGGGGGAGAGGAGGAGGCCGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCCACGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGAGAGGAGGAGGCCGGGGA GAGGAGGAGGCCGGGGGGAGAGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OTOF_chr2_26452203_26483124	26476577	C C	CCCCCACC others(472): Show CCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACGT CCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCC TTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCC ACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCAC CCCTTCCCCCACCCCTTCCCCCACCTCCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0062 a0006c0019t0001g0062	1	327	0.0031	479	c.436 others(494): Show c.436-261_436-260insAAGGAGGTGGGGGAAGGGGTGGGGGAAGGG GTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG ACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476589	C C	CCCCCACC others(472): Show CCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCACCCCTTC CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCTTCCCCCACGTCCTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	317	0.0032	479	c.436 others(494): Show c.436-273_436-272insAAGGACGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTG GGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476577	C C	CCCCCACC others(472): Show CCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACGT CCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCC TTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCC ACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCAC CCCTTCCCCCACCCCTTCCCCCACCTCCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0012 a0012	a0012c0037 a0012c0037	a0012c0037t0001 a0012c0037t0001	a0012c0037t0001g0071 a0012c0037t0001g0071	1	281	0.0036	479	c.267 others(496): Show c.2677-261_2677-260insAAGGAGGTGGGGGAAGGGGTGGGGGAAG GGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGG AAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAG GGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGG G	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476589	C C	CCCCCACC others(472): Show CCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCACCCCTTC CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCAC CTCCTTCCCCACCCCTTCCCCCACGTCCTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0001 a0001c0085t0001	a0001c0085t0001g0143 a0001c0085t0001g0143	1	272	0.0037	479	c.267 others(496): Show c.2677-273_2677-272insAAGGACGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGG G	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45909771	A A	ACCCACTG others(472): Show ACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACT GCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCAACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCAACCCACTGCCCAGATACGGACCCCCCCAACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCA CTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCCG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	282	0.0035	479	c.471 others(494): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGC CCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCAACC CACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCC CCAACCCACTGCCCAGATACGGACCCCCCCAACCCACTGCCCAGATACGG ACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAG ATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCACCCACTG CCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(472): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACATCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	68	0.0147	479	c.139 others(498): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(472): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	68	0.0147	479	c.139 others(498): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(472): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	68	0.0147	479	c.139 others(498): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(472): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACATCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACC TCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	68	0.0147	479	c.139 others(498): Show c.139-18614_139-18613insGGGGGGCTGACCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACATCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCC CGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(472): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACC TCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	68	0.0147	479	c.139 others(498): Show c.139-18614_139-18613insGGGGGGCTGACCCCCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF213_chr17_80255852_80403794	80355524	G G	GAGGAAGA others(472): Show GAGGAAGAAGTGGGGTGACCGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGAATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGACGGGAAT CGGGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGA AGAAGCGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGTGGGGTGA CCGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGG CTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAG AAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGA CGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAG AAGCGGGGTGAATGGGAATGGGGGCTTACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0219 a0007c0008t0004g0219	1	286	0.0035	479	c.108 others(498): Show c.10862+948_10862+949insAGGAAGAAGTGGGGTGACCGGGAATG GGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCACGGAG GAAGAAGCGGGGTGGACGGGAATCGGGGCTCACGGAGGAAGAGGGGTGAC CGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGAATGGGGGC TCACAGAGGAAGAAGTGGGGTGACCGGGAATGGGGGCTTACAGGGGAAGA AGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAA GCGGGGTGAACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACG GGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RPH3AL_chr17_207389_357807	304168	A A	AGGGAGGG others(472): Show AGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTG TCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAA TTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGC TGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGA GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19088.hp1 NA18951.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0002g0028 a0001c0001t0001g0027 a0001c0001t0002g0028	2	120	0.0167	479	c.351 others(498): Show c.351+15251_351+15252insCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CATCTCTTTCCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCA ATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCT GAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCT CCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304168	A A	AGGGAGGG others(472): Show AGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTG TCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAA TTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGC TGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGA GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	119	0.0084	479	c.351 others(498): Show c.351+15251_351+15252insCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCCCA ATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCT GAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCT CCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668870	C C	CACCCTCC others(472): Show CACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCT CCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCAC CCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCAC CCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACC CTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCT CACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCA CCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCA CCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCAC CCTCCCTCTCTCTCTCCTTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0139 a0002c0004t0001g0139	1	220	0.0045	479	c.249 others(498): Show c.2495+1713_2495+1714insAAGGGAGAGGGAAGGAGAGAGAGAGG GAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGG AGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGATGG AGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAGGGGAGAGGGAA GGTGAGGGAGAGGGAGGGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGA GGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAG GGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGG GAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGG AAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAG GGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1288578	T T	TGCTCCGT others(472): Show TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCGTGTCTCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	263	0.0038	479	c.166 others(496): Show c.1662+541_1662+542insGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCGTGTCTCTGCTCCGTCCCGTGTC C	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar

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