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
IQSEC3_chr12_61767_183455	163314	A A	ACAGAACC others(470): Show ACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0074 a0003c0005t0012g0074	1	278	0.0036	477	c.258 others(494): Show c.2584-159_2584-158insCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(470): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCT CTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCCCTCCCCCCCCTCT CTCCCCCTCTCTGTCCCCCTCCCCTCCCCCTCTCCCCTCCCCCTCCCCCC TATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCT TCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCC CTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCC TCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0077 a0003c0003t0001g0077	1	56	0.0179	477	c.11 others(498): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCC CTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCCCTCCC CCCCCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCTCTCCCCTCCCC CTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTC ATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCC CCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCC CTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCC CCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCC TCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(470): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTACC CCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0011 a0001c0010t0001g0011	1	88	0.0114	477	c.171 others(494): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGG GGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGG GGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGG GGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRP1B_chr2_140226423_142136016	141095338	T T	TGATAGGT others(470): Show TGATAGGTTCTCTTTATTTTTTTTTTTTTATTTTTTTTTTTTTTGATCTT AAATATTTTAATAGCTGCATTAAAAAAGTAAAAAAAGAATAAGTCAATTT AGTAATACATTTAATTTTACCCAATATGAAAATATATTACAACGTAATGA TAAGTATGTGAGGCGAAGGATATGTTAATTAGCCTAATTTAATCATACCA CATTGTATACATGTATCATTTTTTTTTTTTTTTAATTTTTTTTTTTTTAT TATACTCTAAGCTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACAT ATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTA GCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCAC CACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCAT TGTTCAATTCCCACCTAAACTATCGCAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0015 a0001c0017t0006g0015	1	19	0.0526	477	c.101 others(498): Show c.1014-33066_1014-33065insTTGCGATAGTTTAGGTGGGAATTG AACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGAC TGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTA ATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTAT ACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAGCTTAGAG TATAATAAAAAAAAAAAAATTAAAAAAAAAAAAAAATGATACATGTATAC AATGTGGTATGATTAAATTAGGCTAATTAACATATCCTTCGCCTCACATA CTTATCATTACGTTGTAATATATTTTCATATTGGGTAAAATTAAATGTAT TACTAAATTGACTTATTCTTTTTTTACTTTTTTAATGCAGCTATTAAAAT ATTTAAGATCAAAAAAAAAAAAAATAAAAAAAAAAAAATAAAGAGAACCT ATC	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	7/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141095338	T T	TGATAGGT others(470): Show TGATAGGTTCTCTTTATTTTTTTTTTTTTTATTTTTTTTTTTTTTGATCT TAAATATTTTAATAGCTGCATTAAAAAAGTAAAAAAAGAATAAGTCAATT TAGTAATACATTTAATTTTACCCAATATGAAAATATATTACAACGTAATG ATAAGTATGTGAGGCGAAGGATATGTTAATTAGCCTAATTTAATCATACC ACATTGTATACATGTATCATTTTTTTTTTTTTTTAATTTTTTTTTTTTAT TATACTCTAAGCTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACAT ATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTA GCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCAC CACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCAT TGTTCAATTCCCACCTAAACTATCGCAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0009 a0001c0015t0009	a0001c0015t0009g0017 a0001c0015t0009g0017	1	19	0.0526	477	c.101 others(498): Show c.1014-33066_1014-33065insTTGCGATAGTTTAGGTGGGAATTG AACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGAC TGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTA ATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTAT ACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAGCTTAGAG TATAATAAAAAAAAAAAATTAAAAAAAAAAAAAAATGATACATGTATACA ATGTGGTATGATTAAATTAGGCTAATTAACATATCCTTCGCCTCACATAC TTATCATTACGTTGTAATATATTTTCATATTGGGTAAAATTAAATGTATT ACTAAATTGACTTATTCTTTTTTTACTTTTTTAATGCAGCTATTAAAATA TTTAAGATCAAAAAAAAAAAAAATAAAAAAAAAAAAAATAAAGAGAACCT ATC	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	7/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141095338	T T	TGATAGGT others(470): Show TGATAGGTTCTCTTTATTTTTTTTTTTTTTATTTTTTTTTTTTTTTGATC TTAAATATTTTAATAGCTGCATTAAAAAAGTAAAAAAAGAATAAGTCAAT TTAGTAATACATTTAATTTTACCCAATATGAAAATATATTACAACGTAAT GATAAGTATGTGAGGCGAAGGATATGTTAATTAGCCTAATTTAATCATAC CACATTGTATACATGTATCATTTTTTTTTTTTTTAATTTTTTTTTTTTAT TATACTCTAAGCTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACAT ATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTA GCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCAC CACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCAT TGTTCAATTCCCACCTAAACTATCGCAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG02451.hp1 others(1): Show HG01261.hp1 HG01884.hp1 HG02451.hp1 HG02965.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0007 a0002c0004 a0003c0003 others(1): Show a0001c0007 a0002c0004 a0003c0003 a0004c0021	a0001c0007t0003 a0002c0004t0004 a0003c0003t0002 others(1): Show a0001c0007t0003 a0002c0004t0004 a0003c0003t0002 a0004c0021t0001	a0001c0007t0003g0002 a0002c0004t0004g0006 a0003c0003t0002g0027 others(1): Show a0001c0007t0003g0002 a0002c0004t0004g0006 a0003c0003t0002g0027 a0004c0021t0001g0026	4	22	0.1818	477	c.101 others(498): Show c.1014-33066_1014-33065insTTGCGATAGTTTAGGTGGGAATTG AACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGAC TGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTA ATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTAT ACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAGCTTAGAG TATAATAAAAAAAAAAAATTAAAAAAAAAAAAAATGATACATGTATACAA TGTGGTATGATTAAATTAGGCTAATTAACATATCCTTCGCCTCACATACT TATCATTACGTTGTAATATATTTTCATATTGGGTAAAATTAAATGTATTA CTAAATTGACTTATTCTTTTTTTACTTTTTTAATGCAGCTATTAAAATAT TTAAGATCAAAAAAAAAAAAAAATAAAAAAAAAAAAAATAAAGAGAACCT ATC	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	7/90			chr2	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(470): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATTAATATATAATTATATATAATA TATAATTATATATTATATAATAATATATAATTATATATTATATATAATTA TATATTATATAATAACATATAATTATATATAATATATAAATATATAATAT ATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	57	0.0175	477	c.622 others(492): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATATATTATATATAATATATAATT ATATATTATATAATAATATATAATTATTAATATATAATTATATATAATAT ATAATTATATATTATATAATAATATATAATTATATATTATATATAATTAT ATATTATATAATAACATATAATTATATATAATATATAAATATATAATATA TAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LUC7L_chr16_183990_234449	186136	G G	GGGAACAG others(470): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAG GAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	281	0.0036	477	c.30 others(488): Show c.3061_*3062insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2853		chr16	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(470): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATA CGTAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATATA ATTATATATAATTATATATAATTTATATACTTATAAATATGTAATTATAT ATGTTATAATTATAAATATATATAATATAAATATACAATACATTTTATAT AATATATAATATATAGTATAATACAAAATATACATTATAATATATTATAA TATATAATATATAATACATATATTATATAAAAATACTATAATATATAATA ATATATATTATAATATATATAATATATAATAATATATTATAATATATATA ATATATAATAATATATTATAATATATATTATAATATAGTATAATATATAT ATTATAATTTATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0070 a0003c0001t0002g0070	1	66	0.0152	477	c.299 others(498): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATATATAGTT ATAACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATA TACTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATA TAAATATACAATACATTTTATATAATATATAATATATAGTATAATACAAA ATATACATTATAATATATTATAATATATAATATATAATACATATATTATA TAAAAATACTATAATATATAATAATATATATTATAATATATATAATATAT AATAATATATTATAATATATATAATATATAATAATATATTATAATATATA TTATAATATAGTATAATATATATATTATAATTTATACTATATATAATATA AAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(470): Show TATAATATATAATTATATTCTATATAGAATATAATTATATAATATATAAT TATATTATATATTATATAATTATAATATAATTATATTATATAATTATATT AAATATATTATATAATATATAATTATATTATATATTATATAATATATAAT TATATTATATATTATATAATATATAATTATATTATATATTATAATACATT TAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAATAG TATTATAATATATAATATATTATATATAATTATATTATAACATATTATAT ATAATTATATTATAGATCATAATCTATAATATAATTATATATAATATGTT ATAATATATAATTATATTCTATATATAATTATATATAATATAATTATATT CTGTATATAATTATATATAATTATATTCTATATATAATATAATTATATAT AATTATATACAGAATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	477	c.-32 others(488): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATATAGAATATAATTATATATTATAACATA TTATATATAATTATATTATAGATTATGATCTATAATATAATTATATATAA TATGTTATAATATAATTATATATAATATATTATATATTATAATACTATTA ATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAATGTA TTATAATATATAATATAATTATATATTATATAATATATAATATAATTATA TATTATATAATATATAATATAATTATATATTATATAATATATTTAATATA ATTATATAATATAATTATATTATAATTATATAATATATAATATAATTATA TATTATATAATTATATTCTATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MICAL3_chr22_17782649_18029561	17877036	G G	GGGAAGTT others(470): Show GGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTAT GGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGA TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGA AGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	212	0.0047	477	c.224 others(496): Show c.2242-5014_2242-5013insATAACTTCCCTAACCTCCATAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAAC TTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCC TAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACC TCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCAT AATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACTGCCATAACCT CCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTC C	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(470): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGG GAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAG AGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGA GGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	173	0.0058	477	c.641 others(492): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACT CTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCC CTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTAC TGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGC others(470): Show AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTG GAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGT GGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGG GGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGG AGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCG TGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGG AGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGC GCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGG GGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0082 a0012c0017t0001g0082	1	357	0.0028	477	c.159 others(494): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTG GAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGC GTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA1_chr14_105414827_105475729	105442796	A A	ACACAACA others(470): Show ACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAAC ACAGCAGAACACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGG AACACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGC AGGAACACAGCAGAACACAACAGACCCCGAGTGTGACTGAGTCCGCTGTG TGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCACT GTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCC GCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGACTGAG TCCGCTGTGTGCAGGAACACAGCAGAACACAACAGACCCCGAGTGTGACT GAGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTG ACTGAGTCCACTGTGTGCAGGAACACAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	108	0.0093	477	c.97- others(492): Show c.97-2588_97-2587insGCTGTGTGCAGGAACACAGCAGAACACAAC AGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACACAACAG AACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAGCAGAA CACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACA CAACAGAACAGACCCCGAGTGTGACTGAGTCCACTGTGTGCAGGAACACA ACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAAC ACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGG AACACAGCAGAACACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGC AGGAACACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCACTGTG TGCAGGAACACAGCACAACAGAACAGACCCCGAGTGTGACTGAGTCC	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTA1_chr14_105414827_105475729	105442796	A A	ACACAACA others(470): Show ACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAAC ACAGCAGAACACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGG AACACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGC AGGAACACAGCAGAACACAACAGACCCCGAGTGTGACTGAGTCCGCTGTG TGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCT GTGTGCAGGAACACAGCAGAACACAACAGACCCCGAGTGTGACTGAGTCC GCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGACTGAG TCCGCTGTGTGCAGGAACACAGCAGAACACAACAGACCCCGAGTGTGACT GAGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTG ACTGAGTCCACTGTGTGCAGGAACACAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	108	0.0093	477	c.97- others(492): Show c.97-2588_97-2587insGCTGTGTGCAGGAACACAGCAGAACACAAC AGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACACAACAG AACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAGCAGAA CACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACA CAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACA GCAGAACACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAAC ACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGG AACACAGCAGAACACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGC AGGAACACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCACTGTG TGCAGGAACACAGCACAACAGAACAGACCCCGAGTGTGACTGAGTCC	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NACC2_chr9_136001537_136100289	136074427	C C	CGGGCGAC others(470): Show CGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAATTAGCC AGGCATGGTGGGACACACCTGTCATTCCAGCTACTTGGGAGGCTGAGGGA GGAGGATCCCTTGAGCCTAGGAATTCGAGGCTGCAGTGAGCTATGATCCC ACCACCACACTCTAGCCTGGGGCCACAAAGCAAGACCCTGTCTCAAAAAA AAAAAAAAAAGAAAAGAAAACAGTTCGGGCACGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGAAC AAGACCATATTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp1 HG02293.hp1 others(8): Show HG01978.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp1 NA18948.hp1 NA18994.hp2 NA18998.hp1 NA19004.hp2 NA19056.hp1 NA19064.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0007c0029	a0001c0002t0016 a0001c0004t0004 a0001c0004t0068 others(5): Show a0001c0002t0016 a0001c0004t0004 a0001c0004t0068 a0001c0005t0031 a0001c0010t0005 a0001c0010t0084 a0001c0010t0089 a0007c0029t0063	a0001c0002t0016g0026 a0001c0004t0004g0027 a0001c0004t0068g0032 others(8): Show a0001c0002t0016g0026 a0001c0004t0004g0027 a0001c0004t0068g0032 a0001c0005t0031g0029 a0001c0005t0031g0030 a0001c0010t0005g0022 a0001c0010t0005g0024 a0001c0010t0005g0028 a0001c0010t0084g0317 a0001c0010t0089g0025 a0007c0029t0063g0031	11	311	0.0354	477	c.-60 others(496): Show c.-60+20761_-60+20762insAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAATATGGTC TTGTTCTCCTGACCTCATGATCCACCCGCCTTGGCCTTCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGTGCCCGAACTGTTTTCTTTTCTTTTTTTT TTTTTTTTGAGACAGGGTCTTGCTTTGTGGCCCCAGGCTAGAGTGTGGTG GTGGGATCATAGCTCACTGCAGCCTCGAATTCCTAGGCTCAAGGGATCCT CCTCCCTCAGCCTCCCAAGTAGCTGGAATGACAGGTGTGTCCCACCATGC CTGGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCC C	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(470): Show CAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATT CCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTC GAGGCTGCAGTGAGCTATGATCCTACCACCACACTCTAGCCTGGGGCCAC AAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAACAGTTC GGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCG GGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGC CTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01516.hp1 HG02897.hp2 HG00280.hp1 HG01516.hp1 HG02897.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0009 a0004c0031 a0001c0003 a0001c0009 a0004c0031	a0001c0003t0083 a0001c0009t0035 a0004c0031t0001 a0001c0003t0083 a0001c0009t0035 a0004c0031t0001	a0001c0003t0083g0326 a0001c0009t0035g0274 a0004c0031t0001g0305 a0001c0003t0083g0326 a0001c0009t0035g0274 a0004c0031t0001g0305	3	61	0.0492	477	c.-60 others(496): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCT TTGTGGCCCCAGGCTAGAGTGTGGTGGTAGGATCATAGCTCACTGCAGCC TCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAGCT GGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTTTT T	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(470): Show CAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCATTC CAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATTCG AGGCTGCAGTGAGCTATGATCCTACCACCACACTCTAGCCTGGGGCCACA AAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAAACAGTTC GGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCG GGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGC CTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01943.hp2 HG01069.hp1 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0007 a0001c0002t0003 a0001c0003t0007	a0001c0002t0003g0318 a0001c0003t0007g0315 a0001c0002t0003g0318 a0001c0003t0007g0315	2	60	0.0333	477	c.-60 others(496): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGC TTTGTGGCCCCAGGCTAGAGTGTGGTGGTAGGATCATAGCTCACTGCAGC CTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTAGC TGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTTTT T	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(470): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGAC CCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCA CCCACCCACCCCTACCCGCTTCTTCCCCACCCACCCACCCAGCCCCACCC CACTCATCGACCCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTAC CCTCTTCCCCACCCACCCACCCCTACCCGCTTCTTCCCCACCCACCCACC CAGCCCCACCCCACTCATCGACCCAGCTCCACCCTCTTCTTCCCCACCGA CCCACCCCTACCCTCTTCCCCACCCACCCACCCCTACCCGCTTCTTCTCC ACCCACCCACCCAGCCCCACCCTATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	299	0.0033	477	c.-15 others(488): Show c.-1532_-1531insGGAATAGGGTGGGGCTGGGTGGGTGGGTGGAGAA GAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTG GGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGG TGGGTGGGGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGG GTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGG GGCTGGGTGGGTGGGTGGGGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGA AGAGGGTAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGAT GAGTGGGGTGGGGCTGGGTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGG GTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGA GCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(470): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATATTATATATATATTATATAATATATAATATATTATATATATTA TATAATATATTGTATATTATATAATATATAATATATTATATATAAATATA TAATATAATATATAATATATAATATATTATATATATTATATTATATATAT TATATTATATATAATATATTATATATTATATATTTATATATAATATATAT ATAATATATATTATATATTATATAATATATAATATATTATATATTATATA ATATATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0043 a0003c0004t0043	a0003c0004t0043g0017 a0003c0004t0043g0017	1	202	0.0050	477	c.48+ others(492): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATATTATATATATATTATATAATATA TAATATATTATATATATTATATAATATATTGTATATTATATAATATATAA TATATTATATATAAATATATAATATAATATATAATATATAATATATTATA TATATTATATTATATATATTATATTATATATAATATATTATATATTATAT ATTTATATATAATATATATATAATATATATTATATATTATATAATATATA ATATATTATATATTATATAATATATATAATATATTATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(470): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATATTATATATATATTATATAATATATAATATATTATATATTATA TAATATATTGTATAATATATAATATATATTATATATAAATATATAATATA TAATATAATATATAATATATAATATATTATATATATTATATTATATATAT TATATTATATATAATATATTATATATTATATATTTATATATAATATATAT ATAATATATATTATATATTATATAATATATAATATATTATATATTATATA ATATATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0017 a0002c0002t0006g0017	1	202	0.0050	477	c.48+ others(492): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATATTATATATATATTATATAATATA TAATATATTATATATTATATAATATATTGTATAATATATAATATATATTA TATATAAATATATAATATATAATATAATATATAATATATAATATATTATA TATATTATATTATATATATTATATTATATATAATATATTATATATTATAT ATTTATATATAATATATATATAATATATATTATATATTATATAATATATA ATATATTATATATTATATAATATATATAATATATTATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(470): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGA GGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGG GAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAG GGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGG GGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAG AAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0050 a0002c0002t0013g0050	1	205	0.0049	477	c.154 others(494): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCC CTCCCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCA CCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
OR2T1_chr1_248398048_248413020	248408784	A A	AGCATTTG others(470): Show AGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGC TAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTG GCCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGC TTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTT AGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAG TTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGG GAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCA CGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGG TCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGA TGGTCACGGGAGTTTAGCTTGGGCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	129	0.0078	477	c.16 others(488): Show c.1680_*1681insGCATTTGACTGTAGATAGTGGCAGATGGTCACGG GAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCA CGGGAGTTTAGCTTGGCCTAGAGCATTTGACTGTAGATAGTGGCAGATGG TCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGA TGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGC AGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGT GGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGAT AGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTA GATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACT GTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		765		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408784	A A	AGCATTTG others(470): Show AGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGC TAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTG GGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGC TTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTT AGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAG TTTAGCTTGGGCTAGCACATTTGACTGTAGATAGTGGCAGATGGTCACGG GAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCA CGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGG TCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGA TGGTCACGGGAGTTTAGCTTGGGCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	131	0.0229	477	c.16 others(488): Show c.1680_*1681insGCATTTGACTGTAGATAGTGGCAGATGGTCACGG GAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCA CGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGG TCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGA TGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGC AGATGGTCACGGGAGTTTAGCTTGGGCTAGCACATTTGACTGTAGATAGT GGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGAT AGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTA GATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACT GTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		765		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408784	A A	AGCATTTG others(470): Show AGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGC TAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTG GGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGC TTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTT AGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAG TTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGG GAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCA CGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGG TCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGA TGGTCACGGGAGTTTAGCTTGGGCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(80): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02451.hp2 HG02559.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03225.hp2 HG03492.hp2 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18949.hp2 NA18951.hp2 NA18957.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0001c0009 others(1): Show a0001c0001 a0001c0006 a0001c0009 a0007c0007	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0006t0001 a0001c0009t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0012g0145 a0001c0001t0013g0127 a0001c0001t0014g0035 a0001c0006t0001g0001 a0001c0009t0001g0130 a0007c0007t0001g0028	83	211	0.3934	477	c.16 others(488): Show c.1680_*1681insGCATTTGACTGTAGATAGTGGCAGATGGTCACGG GAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCA CGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGG TCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGA TGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGC AGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGT GGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGAT AGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTA GATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACT GTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		765		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408922	C C	CGGGAGTT others(470): Show CGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGG TCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGA TGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGC AGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGT GGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGAT AGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTA GATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACT GTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTG ACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCAT TTGACTGTAGATAGTGGCAGATGGTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0154 a0001c0001t0010g0154	1	178	0.0056	477	c.18 others(488): Show c.1818_*1819insGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTA GATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACT GTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTG ACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCAT TTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAG CATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTA GAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGG CTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTT GGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAG CTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCAT	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		903		chr1	TogoVar
PCSK6_chr15_101298933_101494707	101311822	C C	CCACCCCA others(470): Show CCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAG CCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAG CCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAG CCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAG CCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01255.hp1 HG00738.hp2 HG01168.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0266 a0001c0003t0001g0074 a0001c0003t0001g0090 a0001c0001t0001g0266 a0001c0003t0001g0074 a0001c0003t0001g0090	3	315	0.0095	477	c.269 others(496): Show c.2699+1553_2699+1554insAGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGG GCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTG GGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGT G	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDE3A_chr12_20363537_20693583	20612686	A A	ATATATAA others(470): Show ATATATAAGTAATATATAAGTAACTATATATAAGTAATATAGTTACTTAT ATAAGTAACTATATATAAGTAATATATAAGTAACTATATATAAGTAATAT AGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAG TAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGT AATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTAT ATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATA TAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTA CTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACT ATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATAT AGTTACTTATATAAGTAATATAGTTACT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG02300.hp2 others(1): Show HG01074.hp2 HG01433.hp1 HG02300.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0005 a0001c0003t0034 a0001c0003t0036 others(1): Show a0001c0003t0005 a0001c0003t0034 a0001c0003t0036 a0002c0004t0133	a0001c0003t0005g0177 a0001c0003t0034g0073 a0001c0003t0036g0008 others(1): Show a0001c0003t0005g0177 a0001c0003t0034g0073 a0001c0003t0036g0008 a0002c0004t0133g0122	4	163	0.0245	477	c.101 others(494): Show c.1012-742_1012-741insTAAGTAACTATATATAAGTAATATAGTT ACTTATATAAGTAACTATATATAAGTAATATATAAGTAACTATATATAAG TAATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTA TATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATAT ATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATATAGTT ACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAAC TATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATA TAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAA GTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAG TAATATAGTTACTTATATAAGTAATATAGTTACTTATATAAGTAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(470): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGCGGGGTGTGGG GATGCACTGAGTCGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCGGG GGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTG GGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTC TGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGG TGTGGGGATGCACTGAGTCTGGGGAGGGCGGGGTGTGGGGATGCACTGAG TCTGGGGGAGGGGGGGGCGTGGGGATGCACTGAGTCGGGGGGAGGGGGGT GTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGA GTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0040 a0040	a0040c0111 a0040c0111	a0040c0111t0014 a0040c0111t0014	a0040c0111t0014g0030 a0040c0111t0014g0030	1	34	0.0294	477	c.299 others(492): Show c.2992-13_2992-12insCCCCAGACTCAGTGCATCCCCACACCCCGC CCTCCCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTC AGTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACAC CCCCCTCCCCCCGACTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCGCCCTCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCAGA CTCAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCA CACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCC CGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCGACTCAGTGCATCCC CACACCCCGCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLEKHG4B_chr5_87168_194966	100816	G G	GAAAAGCC others(470): Show GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAA CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATC CATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCCCTGGAGAAAGCCTGTAGGGGAGAGACTGTT GTGAGGTAAATCCATATAAAGCTCTGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19043.hp2 HG03471.hp2 NA19043.hp2	a0008 a0008	a0008c0025 a0008c0079 a0008c0025 a0008c0079	a0008c0025t0062 a0008c0079t0061 a0008c0025t0062 a0008c0079t0061	a0008c0025t0062g0173 a0008c0079t0061g0172 a0008c0025t0062g0173 a0008c0079t0061g0172	2	159	0.0126	477	c.45+ others(492): Show c.45+8545_45+8546insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAACCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTAAATCCATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGCCTGTA GGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101008	A A	AAATCCAT others(470): Show AAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAGAGA TTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTA GGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAG CCTGTAGGGGAAAGACTGTTGTGAGGTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0028 a0028	a0028c0058 a0028c0058	a0028c0058t0039 a0028c0058t0039	a0028c0058t0039g0157 a0028c0058t0039g0157	1	142	0.0070	477	c.45+ others(492): Show c.45+8751_45+8752insGAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAGAGA TTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTA GGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAG CCTGTAGGGGAAAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101061	T T	TAATCCAT others(470): Show TAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAACCCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTA GGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCT GTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAG CCTGTAGGGGAGAGACTGTTGTGAGGTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0029 a0029	a0029c0046 a0029c0046	a0029c0046t0040 a0029c0046t0040	a0029c0046t0040g0179 a0029c0046t0040g0179	1	89	0.0112	477	c.45+ others(492): Show c.45+8799_45+8800insTCTGGAAAAAGCCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGAC TGTTGTGAGGTTAATCCATATAAAACCCTGGAAAAAGTCTGTAGGGGAGA GACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGG AGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAG GGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAA AGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101509	C C	CCTGTAGG others(470): Show CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAA CCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATC CATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATACAAAGCTCTGGAGAAAGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0036 a0006c0072t0036	a0006c0072t0036g0206 a0006c0072t0036g0206	1	191	0.0052	477	c.45+ others(492): Show c.45+9274_45+9275insCCTGGGAAAAGCCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGAC TGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGA GACTGTTGTGAGGTAAATCCATATAAAACCCTGGAAAAAGTCTGTAGGGG AGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAG GGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAGAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAGAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATACAAAGCTCTGGA GAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101610	A A	AAAAGCCT others(470): Show AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC CCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATA TAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCC ATATAAAACCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTAAATCCATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATACAAAGCTCTGGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0044 a0006c0021t0044	a0006c0021t0044g0199 a0006c0021t0044g0199	1	207	0.0048	477	c.45+ others(492): Show c.45+9338_45+9339insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTAAATCCATATAAAACCCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAGAAAGTCTGTA GGGGAGAGACTGTTGTGAGGTTAATCCATACAAAGCTCTGGAGAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	102066	A A	AAATCCAT others(470): Show AAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTA GGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGTCT GTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAG CCTGTAAGGGAGAGACTGTTGTGAGGTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02109.hp2 HG02145.hp2 HG02486.hp1	a0008 a0008	a0008c0024 a0008c0025 a0008c0024 a0008c0025	a0008c0024t0022 a0008c0025t0011 a0008c0024t0022 a0008c0025t0011	a0008c0024t0022g0174 a0008c0024t0022g0175 a0008c0025t0011g0171 a0008c0024t0022g0174 a0008c0024t0022g0175 a0008c0025t0011g0171	3	186	0.0161	477	c.45+ others(492): Show c.45+9815_45+9816insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT AAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGCCTGTA AGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKAG2_chr7_151551127_151882115	151855141	A A	ATGCTCCA others(470): Show ATGCTCCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACA CCACCATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACC ACCCTCCACACACACCACCCTCCACACACACCGCCCTCCACACACACCGC CCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACACCACCC TCCACACACACCACCCTCCACACACACCATCCTCCACACACCACCCTCCA CACACACCACCCTCCACACACACCATGCTCCACACACCACCCTCCACACA CCACCCTCCACACACACCATCCACACACCACCCTCCACACACACCATGCT CCACACACACCGCCCTCCACACACACCATCCTCCACACACACCATGCTCC ACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACCAT CCACACACACCACGCTCCACACACACCG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	173	0.0058	477	c.114 others(496): Show c.114+21365_114+21366insCGGTGTGTGTGGAGCGTGGTGTGTGT GGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGT GTGGAGCATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGT GGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGGT GGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTG TGTGGAGGGTGGTGTGTGGAGGATGGTGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGA GGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGT GGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGC A	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798410	G G	GTGGTGGT others(470): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGACGGTGGTGACGGTGGT GACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT AATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0176 a0001c0001t0005g0176	1	176	0.0057	477	c.185 others(496): Show c.1855-5461_1855-5460insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGACGGTGGTGACGGTGGTGACGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATAGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTAATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT G	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798426	T T	TGATGGTG others(470): Show TGATGGTGGTGGTGGTGACGGTGGTGACGGTGGTGACGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATAGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGACGGTGGTGAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0124 a0001c0001t0027g0124	1	173	0.0058	477	c.185 others(496): Show c.1855-5446_1855-5445insATGGTGGTGGTGGTGACGGTGGTGAC GGTGGTGACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TGATAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGAC G	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01433.hp1 HG01952.hp1 others(1): Show HG00621.hp1 HG01433.hp1 HG01952.hp1 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0042 a0003c0004t0001 a0001c0001t0001 a0001c0001t0042 a0003c0004t0001	a0001c0001t0001g0052 a0001c0001t0001g0129 a0001c0001t0042g0074 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0129 a0001c0001t0042g0074 a0003c0004t0001g0080	4	71	0.0563	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19070.hp2 HG03704.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	69	0.0290	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCTCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	68	0.0147	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	68	0.0147	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	68	0.0147	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0029 a0004c0005t0001g0029	1	68	0.0147	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACATCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG04228.hp2 HG02080.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0058 a0001c0001t0001 a0001c0001t0058	a0001c0001t0001g0064 a0001c0001t0058g0049 a0001c0001t0001g0064 a0001c0001t0058g0049	2	69	0.0290	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03098.hp2 HG02083.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0054 a0001c0001t0046 a0001c0001t0054	a0001c0001t0046g0090 a0001c0001t0054g0047 a0001c0001t0046g0090 a0001c0001t0054g0047	2	69	0.0290	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02622.hp1 HG00609.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0055 a0001c0001t0053g0040 a0001c0001t0001g0055 a0001c0001t0053g0040	2	69	0.0290	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCTCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	68	0.0147	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGACATCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	68	0.0147	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	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(470): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0030 a0001c0001t0048g0030	1	68	0.0147	477	c.139 others(496): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG G	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar

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