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	103862	C C	CGGGGCTC others(502): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGT TCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGA GGGGAGGCGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0028 a0015c0039t0028	a0015c0039t0028g0096 a0015c0039t0028g0096	1	100	0.0100	509	c.623 others(526): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCT CAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAG GGGAGGCGGGGGCTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(502): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTC AGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGG GGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGC TCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGG GGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0007 a0007	a0007c0048 a0007c0048	a0007c0048t0001 a0007c0048t0001	a0007c0048t0001g0223 a0007c0048t0001g0223	1	100	0.0100	509	c.623 others(526): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGC GGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGA GGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGG GCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAG GCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGG AGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(502): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGGA GGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTC AGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGG GGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGC TCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGG GGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0235 a0001c0059t0001g0235	1	100	0.0100	509	c.623 others(526): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGC GGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGA GGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGG GCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAG GCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGG AGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173111	C C	CCTCCTTC others(502): Show CCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCC TCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTC CCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCC CCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTC CCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTC CCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCC TCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCC TCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCC CTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0075 a0004c0009t0002g0075	1	152	0.0066	509	c.11 others(530): Show c.1103+4082_*1103+4083insTTCCCTCTCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCC CCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTC CCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCT CCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCC CCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCC TCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCA TCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTC CCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCT CTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	167997508	G G	GGGGGCGG others(502): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGT CGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAA TGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	347	0.0029	509	c.-19 others(520): Show c.-1961_-1960insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGAT GGGGGGTCGGGGGAATGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG TGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		162		chr6	TogoVar
LHPP_chr10_124456823_124619141	124471507	T T	TATTTTAT others(502): Show TATTTTATATATATTTATATATATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATTTATATATATTTATGTATATTTATATATATTTAT ATATTTATGTATATATTTATATATATTTATATATTTATGTATATATTTAT ATATATTTATATGTATTTATATATATATTTATATGTATTTATATATATTT ATATATTTATGTGTATTTATACATATATATTTATATGTATTTATATATAT TTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	213	0.0047	509	c.125 others(526): Show c.125+9520_125+9521insATTTTATATATATTTATATATATATAAA TTTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATAT TTTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTA TATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATA TATATATTTATATATATTTATGTATATTTATATATATTTATATATATTTA TGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATGTATTTATATATATATT TATATGTATTTATATATATTTATATATTTATGTGTATTTATACATATATA TTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(502): Show CGGGTGTGAGTGATGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTG CGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAG TGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGT GTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCT CGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGG ACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAG TGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGT GTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0061 a0008c0061	a0008c0061t0003 a0008c0061t0003	a0008c0061t0003g0212 a0008c0061t0003g0212	1	188	0.0053	509	c.153 others(528): Show c.1530-4959_1530-4958insACCCCGAGACACCACTCACACCCACC CCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCGT GACACCACTCACACCCATCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTCG CACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACC CGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCTC CCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGA GACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACA CCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACATCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(502): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02895.hp2 HG01081.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0135 a0001c0002t0001g0161 a0001c0001t0001g0135 a0001c0002t0001g0161	2	62	0.0323	509	c.363 others(526): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAGCCA others(502): Show AAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC TGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGCA GTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAAT TACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCAT CAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGCG CCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACTC CAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG02897.hp2 others(3): Show HG02559.hp2 HG02809.hp1 HG02897.hp2 NA18522.hp2 NA18942.hp1 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0017 a0001c0001 a0001c0002 a0007c0017	a0001c0001t0001 a0001c0002t0001 a0007c0017t0001 a0001c0001t0001 a0001c0002t0001 a0007c0017t0001	a0001c0001t0001g0109 a0001c0001t0001g0206 a0001c0001t0001g0207 others(3): Show a0001c0001t0001g0109 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0002t0001g0194 a0007c0017t0001g0105	6	66	0.0909	509	c.363 others(526): Show c.3638-629_3638-628insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AGCCAGGT others(502): Show AGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGA GGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGCAGTG GCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATTAC AAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCATCAA GATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGCGCCT GTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACTCCAG CCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp1 NA19030.hp2 others(1): Show HG01109.hp2 HG02965.hp1 NA19030.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0015 a0001c0004 a0003c0015	a0001c0004t0001 a0003c0015t0001 a0001c0004t0001 a0003c0015t0001	a0001c0004t0001g0083 a0001c0004t0001g0122 a0003c0015t0001g0022 others(1): Show a0001c0004t0001g0083 a0001c0004t0001g0122 a0003c0015t0001g0022 a0003c0015t0001g0023	4	64	0.0625	509	c.363 others(526): Show c.3638-632_3638-631insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22			chr11	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACGCTT others(502): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTT ACATCTACCTCCACACTCGCACTTACACCCACACTTACATCTACCTCCAC ACCCACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACTCGCACTTAC ACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACGCTTACATCTACCACACCCACACTTACACCCACGCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACA TCTACCTCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0202 a0001c0001t0009g0202	1	242	0.0041	509	c.129 others(528): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACCCACGCTTACATCTACCTCCACACTCGCACTTACACCC ACACTTACATCTACCTCCACACCCACACTTACACTCATGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACTCGCACTTACACCCACACTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACGCTTACATCTACCACACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	187071	G G	GGAGGAAC others(502): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAA CAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGGAACAGCGACACGGGGGGGAACAGCGACACGGGAGGGAGGAACAGCG ACACGGGGGGGAACAGCGACACGGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCG ACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	310	0.0032	509	c.21 others(520): Show c.2126_*2127insTCCCCCGTGTCGCTGTTCCTCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCC CCCCGTGTCGCTGTTCCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGC TGTTCCCCCCCGTGTCGCTGTTCCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1918		chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(502): Show TATAATATATAATTATATTCTATATAGAATATAATTATATAATATATAAT TATATTATATATTATATAATTATAATATAATTATATTATATAATTATATT AAATATATTATATAATATATAATTATATTATATATTATATAATATATAAT TATATTATATATTATATAATATATAATTATATTATATATTATAATACATT TAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAATAG TATTATAATATATAATATATTATATATAATTATATTATAACATATTATAT ATAATTATATTATAGATCATAATCTATAATATAATTATATATAATATGTT ATAATATATAATTATATTCTATATATAATTATATATAATATAATTATATT CTGTATATAATTATATATAATATAATTATATTCTGTATATAATTATATAT AATTATATTCTATATATAATATAATTATATATAATTATATACAGAATATA ATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	509	c.-32 others(520): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATACAGAATATAATTATATTATATATAATT ATATATAGAATATAATTATATATTATAACATATTATATATAATTATATTA TAGATTATGATCTATAATATAATTATATATAATATGTTATAATATAATTA TATATAATATATTATATATTATAATACTATTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAAATGTATTATAATATATAATATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATAAT ATAATTATATATTATATAATATATTTAATATAATTATATAATATAATTAT ATTATAATTATATAATATATAATATAATTATATATTATATAATTATATTC TATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TTTGAGAC others(502): Show TTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACG ATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGG TAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTG GTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGT GCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTT CTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGA AATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACA AGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATC ACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGATTTGTTTTTTGTT TGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	122	0.0082	509	c.753 others(526): Show c.753+3136_753+3137insCAAACAAACAAACAAAAAACAAATCAAA AAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCC TAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGA ATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAA AATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGC CAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGA GAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAA CCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAG CCTGGGCAACAAGAGTGAAATTCTGTCTCAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TTTGAGAC others(502): Show TTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACG ATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGG TAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTG GTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGT GCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTT CTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGA AATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACA AGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATC ACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTT TGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02155.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02155.hp1 HG02559.hp1 HG02622.hp2 HG03195.hp1	a0004 a0010 a0004 a0010	a0004c0004 a0010c0009 a0004c0004 a0010c0009	a0004c0004t0001 a0004c0004t0002 a0010c0009t0001 others(1): Show a0004c0004t0001 a0004c0004t0002 a0010c0009t0001 a0010c0009t0002	a0004c0004t0001g0135 a0004c0004t0002g0120 a0010c0009t0001g0128 others(3): Show a0004c0004t0001g0135 a0004c0004t0002g0120 a0010c0009t0001g0128 a0010c0009t0001g0129 a0010c0009t0001g0150 a0010c0009t0002g0130	6	127	0.0472	509	c.753 others(526): Show c.753+3136_753+3137insCAAACAAACAAACAAAAAACAAACCAAA AAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCC TAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGA ATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAA AATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGC CAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGA GAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAA CCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAG CCTGGGCAACAAGAGTGAAATTCTGTCTCAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(502): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGGCA CGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGG GGTGTGGAGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCAT GGGGGGCCGTGTGGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGG GCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGG TCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGG AGGGGCGCGTGGAGGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTG GGGGTGTGTGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTG GAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0293 a0001c0009t0001g0293	1	218	0.0046	509	c.159 others(526): Show c.1596+173_1596+174insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGGCACGT GGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGT GTGGAGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGCCGTGTGGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCG CATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCG CGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGG GGCGCGTGGAGGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(502): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGAT GGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTG GTGGTGGTGGTAGTCGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGG TAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTA GTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0375 a0001c0001t0026g0375	1	4	0.2500	509	c.160 others(526): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACCA CCATCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCATCACCATCACCACCACCACC ATCACCACCACCACCACGACTACCACCACCACCACCACTACCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACTA CTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCACCACC ACCACCACCATCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NEU4_chr2_241804193_241822413	241806988	A A	ACCCTCCC others(502): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACTCTCCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0143 a0002c0003t0002g0143	1	229	0.0044	509	c.-22 others(520): Show c.-2290_-2289insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACTCTCCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2204		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(502): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC CGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATA CATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATACA GTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATAC ACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATAT ACACACAGTA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0230 a0001c0003t0005g0230	1	118	0.0085	509	c.-75 others(528): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATAT ACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCA GTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATAC TGCATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATA TATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATA TACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACATACAGTATACATACATACAGTATACATACATACAGTA TACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(502): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG AGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	206	0.0049	509	c.140 others(526): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	949394	G G	GGCCTCCT others(502): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCGCAGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	120	0.0083	509	c.360 others(528): Show c.360+29924_360+29925insAGGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCTGCGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAG GAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949673	C C	CCCCCCTG others(502): Show CCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGC GGCCTCCTCCTTTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCT TTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC GCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGC CTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0176 a0001c0001t0008g0176	1	214	0.0047	509	c.360 others(528): Show c.360+29645_360+29646insAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCCGCGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAAAGGAGGAGGCCGCGGG GAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAAAGGAGGAGGCCGCGGGGAGAGGAGGAG GCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OLFM1_chr9_135082668_135126180	135118886	G G	GCTCGCCG others(502): Show GCTCGCCGGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAAATGCTCGCCG GGTCTTTGGCATGCTCGCCGGGTCTTTGGAGTACTCACTGGATCTTTGGA TTACTCACTGGATCTTTGGAAGTGCTCACTGGATCTTTGGAAGTGCTCAC TGGGTCTTTGGAGTGCTCACCGGGCCTTTGGAAGTGCTCACCGGGTCTTT GGAGTACTCGTTGTGTCTTTGGAGTGCTCACCGAGTCTTTGGAGTACTTA CCGGGTCTTTGGAGTACTCACTGGGTCTTTGGAGTGCTCGCTGTGTCTTT GGAGTACTCACTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAAGTGCTC ACTGGATCTTTGGAGTACTCACTGGATCTTTGGAAGTGCTCACTGGGTCT TTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCACCGGGCCTTTGGAAGTG CTCACCAGGTCTTTGGAGTACTCATCGTGTCTTTGGAGTGCTCACCGAGT CTTTGGAGTA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0208 a0001c0002t0003g0208	1	358	0.0028	509	c.784 others(524): Show c.784-616_784-615insCGCCGGGTCTTTGGAAGTGCTCACTGGGTC TTTGGAAATGCTCGCCGGGTCTTTGGCATGCTCGCCGGGTCTTTGGAGTA CTCACTGGATCTTTGGATTACTCACTGGATCTTTGGAAGTGCTCACTGGA TCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCACCGGGCCTTTGGAA GTGCTCACCGGGTCTTTGGAGTACTCGTTGTGTCTTTGGAGTGCTCACCG AGTCTTTGGAGTACTTACCGGGTCTTTGGAGTACTCACTGGGTCTTTGGA GTGCTCGCTGTGTCTTTGGAGTACTCACTGGGTCTTTGGAGTGCTCACTG GGTCTTTGGAAGTGCTCACTGGATCTTTGGAGTACTCACTGGATCTTTGG AAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCA CCGGGCCTTTGGAAGTGCTCACCAGGTCTTTGGAGTACTCATCGTGTCTT TGGAGTGCTCACCGAGTCTTTGGAGTACT	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OPCML_chr11_132409981_133537501	133082514	C C	CTCCCCTC others(502): Show CTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTC CCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCC TCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCC TCCCCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCA TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCC TCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCT CCTCCCCCTCGCCGATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCT CCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCC CCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCT CGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGC CCATCCCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	46	0.0217	509	c.62- others(528): Show c.62-139505_62-139504insAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAG GGGAGGAGGGGAAGGGGGATCGGCGAGGGGGAGGAGAGGATGAGGAGGGG AGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGG AGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAAGGGG GATGGGCGAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGGGGGAT GTGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGG CGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGA GGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
PASK_chr2_241101099_241154472	241115688	C C	CCGGTCCC others(502): Show CCGGTCCCCAAGCATGCCATTACACCAGGGGCCACCGGTCCCCAAGCATC CCATTACACCGGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGGC CACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCA TCCCATTACGCCAGGGACACCCGGTCCCCAAGCATCCCATTACACCAGGG GCCACCGGTCCTCAAGCATTCCATTACACCGGGGCCACCCGGTCCCCAAG CATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAG GGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCA AGCATCCCATTACGCCAGGGACATCCGGTCCTCAAGCATCCCATTACGCC AGGGGCCACCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCC CAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACA CCAGGGGCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG03041.hp2 HG02257.hp2 HG02280.hp1 HG03041.hp2	a0001 a0001	a0001c0039 a0001c0040 a0001c0060 a0001c0039 a0001c0040 a0001c0060	a0001c0039t0001 a0001c0040t0001 a0001c0060t0002 a0001c0039t0001 a0001c0040t0001 a0001c0060t0002	a0001c0039t0001g0238 a0001c0040t0001g0239 a0001c0060t0002g0293 a0001c0039t0001g0238 a0001c0040t0001g0239 a0001c0060t0002g0293	3	372	0.0081	509	c.307 others(526): Show c.3073-276_3073-275insTGGCCCCTGGTGTAATGGGATGCTTGGG GACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGG TGTAATGGGATGCTTGAGGACCGGTGGCCCCTGGCGTAATGGGATGCTTG AGGACCGGATGTCCCTGGCGTAATGGGATGCTTGGGGACCGGTGGCCCCT GGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCT TGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCC CCGGTGTAATGGAATGCTTGAGGACCGGTGGCCCCTGGTGTAATGGGATG CTTGGGGACCGGGTGTCCCTGGCGTAATGGGATGCTTGGGGACCGGTGGC CCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGA TGCTTGGGGACCGGGTGGCCCCGGTGTAATGGGATGCTTGGGGACCGGTG GCCCCTGGTGTAATGGCATGCTTGGGGACCG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(502): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTAATACATATATAACATGTATTACATATATGTAATA CATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	122	0.0082	509	c.70 others(520): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACATATATAACATGTAT TACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PKP3_chr11_389209_409908	402630	A A	ACCCACTC others(502): Show ACCCACTCACACCCGGCCCCCGCTCACCCCGCCCCCGCTCACCCCGACCC GCTCACACCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTC ACCCCGGACCCCCGCTCACCCCCGACCCGCCTCACCCCGGCCCCGCTCAC CCAGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCG CCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCGACCCC GCTCACCCCGGACCCCCGGCCCCGCTCACCCCCGACCCCGACCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCGCTGACCCCCGACCCGCTCACCCCC GACCCCCGGCCCGCTCACCCCCGGCTCCACTGACCCGGCCCCGCTCACCC CGGACCCCGCTCACCCCGACCCCGGCCCCGCTCACCCCCGGCTCCACTGA CCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCGGCCCCGCT CACCCCCGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	85	0.0118	509	c.173 others(526): Show c.1738-445_1738-444insACTCACACCCGGCCCCCGCTCACCCCGC CCCCGCTCACCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGCCCCG CTCACACCCGCCCCGCTCACCCCGGACCCCCGCTCACCCCCGACCCGCCT CACCCCGGCCCCGCTCACCCAGCCCCGCTCACACCCGCCCCGCTCACCCG GGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGC CCCGCTCACCCCGACCCCGCTCACCCCGGACCCCCGGCCCCGCTCACCCC CGACCCCGACCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTGACC CCCGACCCGCTCACCCCCGACCCCCGGCCCGCTCACCCCCGGCTCCACTG ACCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCGACCCCGGCCCCGCT CACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACC CCCGACCCCGGCCCCGCTCACCCCCGGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(502): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGGTAGGGGTG GGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGG TAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTA GGGATGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTA GGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0011 a0008c0025t0011	a0008c0025t0011g0171 a0008c0025t0011g0171	1	2	0.5000	509	c.45+ others(520): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCG CCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC GGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGG TGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGT GGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG GGGGCGCGGGGGTAGGGATGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG GGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PTPN4_chr2_119754922_119989899	119843930	A A	ACCCCCCC others(502): Show ACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGC CGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCC GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAG ACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTTCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	240	0.0042	509	c.139 others(528): Show c.139-18599_139-18598insCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(502): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCC TCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG03209.hp1 others(1): Show HG02572.hp1 HG02922.hp1 HG03209.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0020 a0001c0001 a0002c0020	a0001c0001t0002 a0001c0001t0026 a0001c0001t0038 others(1): Show a0001c0001t0002 a0001c0001t0026 a0001c0001t0038 a0002c0020t0019	a0001c0001t0002g0189 a0001c0001t0026g0188 a0001c0001t0038g0190 others(1): Show a0001c0001t0002g0189 a0001c0001t0026g0188 a0001c0001t0038g0190 a0002c0020t0019g0154	4	13	0.3077	509	c.80+ others(526): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCCC TCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79495580	T T	TGGGAAGG others(502): Show TGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAAAGGGTA CTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTG GGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGG GAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAAAGGGTACTG GGGCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGG AGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGAA GGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGC AGGGATGGGGATGCGGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGT GGGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGGTGCGGGAAGGTG GGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGCAGGG ATGGGGGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01255.hp2 others(13): Show HG00140.hp2 HG01081.hp1 HG01255.hp2 HG01993.hp1 HG02300.hp1 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp2 NA18942.hp2 NA18966.hp1 NA18983.hp1 NA19085.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0027 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0069 others(13): Show a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0002g0150 a0001c0001t0003g0040 a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0001t0004g0128 a0001c0001t0005g0147 a0001c0001t0007g0038 a0001c0001t0014g0027 a0001c0001t0027g0111 a0001c0002t0002g0153 a0001c0002t0004g0126 a0001c0002t0005g0103	16	116	0.1379	509	c.-31 others(530): Show c.-319-12983_-319-12982insGCACCCCCATCCCTGCCCCAGTAC CCCTGCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCACC CCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCCC TCCCCCACCTTCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCT GCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCCG CATCCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCA CCCCTCCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCTTTCCC CCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCCGCAT CCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCC CTCCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCTTTCCCCCA CCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(502): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT TTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTAC ATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	27	0.0370	509	c.-75 others(528): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATAAACTAAA TATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAAC TAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATAAATAAATATATATTTAT AAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATAT TTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATAT ATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAA ATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMD11_chr1_918923_949574	934260	A A	AGGGGAGG others(502): Show AGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCAGGGGGGGCG GCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTAC AGGTGGGCAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0316 a0001c0002t0009g0316	1	305	0.0033	509	c.843 others(526): Show c.843-1500_843-1499insCCGTTACAGGTGGGCAGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCA GGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTT ACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCAGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78430084	A A	AGTATTTG others(502): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACTGTATTTGTTTA TAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0181 a0001c0001t0008g0181	1	311	0.0032	509	c.632 others(526): Show c.632+8130_632+8131insGTTTATAAATACAGTATTTGTTTATAAA TACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTATTTAT others(502): Show TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAA ATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0034 a0001c0002t0004g0034	1	255	0.0039	509	c.632 others(526): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCGB1C2_chr17_132569_144067	140917	G G	GGACCTTG others(502): Show GGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGT GAGGGGACATGGTGAGGAGGACCTGGGGGGGACCTTGGTGAGGGGACATG GTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGAGGACCTGGTGAGGGG AACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGAGGACCTGGTGA GGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATG GGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACCTGGTGAGGGGAAC ATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGGGGGA CCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAG GAGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACCTGG TGAGGGGAACATGGGTGGGACCTGGTGAGGAGGACCTGGTGAGGGGAACA TGGGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	400	0.0025	509	c.19 others(520): Show c.1975_*1976insGACCTTGGTGAGGAGGACCTGGTGAGGGGAACAT GGGTGGGACCTTGGTGAGGGGACATGGTGAGGAGGACCTGGGGGGGACCT TGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGA GGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTG AGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCT GGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGA CCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGG GGAACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGG TGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGGGGGACCTTG GTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTGGTGAGGAGGAC CTGGTGAGGGGAACATGGGTGGGGA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1851		chr17	TogoVar
SLC38A10_chr17_81239811_81300307	81249360	G G	GATGAAGG others(502): Show GATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAGGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGG AAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAA GAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGGGAGGAGGGAGGGAAGAG GAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGA GGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAG GGAAGAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGG GAAGAGGAGGGAAAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGA AGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAG AGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0028 a0003c0006t0001g0028	1	94	0.0106	509	c.206 others(528): Show c.2065+2132_2065+2133insTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCC TCCTCTTCCCTCCCTCCTCCCTCCCTCCTCTTCCCTCCCTCCTCCCTCCC TCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCT CCCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCTTTCTCCCTCCTCTTC CCTCCCTCCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCC CTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCAT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SMCHD1_chr18_2650726_2810017	2740065	T T	TAAATGCT others(502): Show TAAATGCTGTCCCTCCCGAAGCGTATCAGCTAACTGTGTGTGCAGCTGCT GTAACATTATGAGCTATACTCCTAATTAATCCCTTGGAATTTCAGGCATT TTTCTTTCTGTCCTCAGCTCTGATGAAGGTGCGTCAACAACTCCTTGCCT CCAAGTTCCTAAATGAGCCCACACCCTCTGCCAGCGCTGCTATAATTTTA TTGGAATGGGCCCCATTCCCTTTGATCTCCTCTGGTTCTTAAACCCAGCA GTTGTGTGTTCGAACATCAATGGAAACGGGGTTTCAAGCTTCCTCTTTCA TTATCTTTCTCAAAGATAAAAAACAGCAAAAGGGAAAAAAATGTCCTGAG CTTTGTAGATGAGGCAATCTTTTTACAGTAATTTCTTTATCTGAATTTAT CAGATCAACAAAGTTGTTTAGAAATGTATGTCCACTCACATCTTCCCATC TTAAAGGTGGTTTTTCTTAGAAATAAATAAAAATGAAATACAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0029 a0011c0024t0029	a0011c0024t0029g0232 a0011c0024t0029g0232	1	338	0.0030	509	c.351 others(526): Show c.3514+561_3514+562insGAAGCGTATCAGCTAACTGTGTGTGCAG CTGCTGTAACATTATGAGCTATACTCCTAATTAATCCCTTGGAATTTCAG GCATTTTTCTTTCTGTCCTCAGCTCTGATGAAGGTGCGTCAACAACTCCT TGCCTCCAAGTTCCTAAATGAGCCCACACCCTCTGCCAGCGCTGCTATAA TTTTATTGGAATGGGCCCCATTCCCTTTGATCTCCTCTGGTTCTTAAACC CAGCAGTTGTGTGTTCGAACATCAATGGAAACGGGGTTTCAAGCTTCCTC TTTCATTATCTTTCTCAAAGATAAAAAACAGCAAAAGGGAAAAAAATGTC CTGAGCTTTGTAGATGAGGCAATCTTTTTACAGTAATTTCTTTATCTGAA TTTATCAGATCAACAAAGTTGTTTAGAAATGTATGTCCACTCACATCTTC CCATCTTAAAGGTGGTTTTTCTTAGAAATAAATAAAAATGAAATACAAAA AAAAAAAAAAAAAAAAAATGCTGTCCCTCCC	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	27/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMYD3_chr1_245744347_246512279	246325127	G G	GGGGGGCA others(502): Show GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCA GGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAG GAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGG GAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGA GTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGG AGAAGGAGTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0128 a0002c0004t0001g0128	1	72	0.0139	509	c.531 others(526): Show c.531+2073_531+2074insGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCG ACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGC CCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCC TTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTC TCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGA CTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCC CCCCGACTCCTTCTCCCTCCTTCCTGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(502): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGG AAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGG GGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0097 a0001c0001t0017g0097	1	12	0.0833	509	c.34 others(518): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCCTCCCCC GTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTC CCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(502): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	12	0.0833	509	c.34 others(518): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCATCTCCCCTCCC CCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTC CCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCTCCCC CCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTC CCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(502): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGG AGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAAGGGG AAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGG GGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	12	0.0833	509	c.34 others(518): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(502): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGG AGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGG AAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGG GGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 NA19065.hp1 HG01081.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0001 a0001c0001t0001g0073	2	13	0.1538	509	c.34 others(518): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
TCF3_chr19_1604292_1657615	1628362	G G	GTGAGGCG others(502): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGG GACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGG GACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAG GGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCG GGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0012 a0001c0005t0004g0012	1	313	0.0032	509	c.299 others(524): Show c.299-937_299-936insTCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTC TGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THNSL2_chr2_88165346_88191627	88181111	C C	CTCCTCTC others(502): Show CTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCCTCTCTTCCTCTCTCT CTCCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0013 a0003c0005t0007g0013	1	47	0.0213	509	c.803 others(526): Show c.803-1588_803-1587insTCCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCTCTCCT CTCTCCTCTCTTCCTCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC TCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCCTCTCTCT	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8			chr2	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(502): Show ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TTATATATTATATATACATTATATATATTATATATTATATATACATTATA TATATTATATATTATATATACATTATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	149	0.0067	509	c.102 others(528): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(502): Show TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TATATTATATTATATAGTATATAATATATATTATATTATATAGTATATAA TATAGTATATATTATATAGTATATAATATAGTATATATTATATAGTATAT AATATAGTATATATTATATAGTATATAATATAGTATATATTATATAGTAT ATAATATAGTATATATTATATAGTATATAATATAGTATATATTATATAGT ATATAATATAGTATATATTATATAGTATATAATATAGTATATATTATATA GTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAG TATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATA TAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATTAT ATAGTATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	80	0.0125	509	c.44- others(526): Show c.44-14608_44-14607insTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATATACTATA TTATATACTATATAATATATACTATATTATATACTATATAATATATACTA TATTATATACTATATAATATATACTATATTATATACTATATAATATATAC TATATTATATACTATATAATATATACTATATTATATACTATATAATATAT ACTATATTATATACTATATAATATATACTATATTATATACTATATAATAT AATATATATTATATACTATATAATATAATATATATTATATACTATATAAT ATAATATACTATATTATATACTATATAATAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(502): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT TTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTAC ATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0178 a0001c0001t0028g0178	1	24	0.0417	509	c.82+ others(524): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTATT TAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATA TATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(502): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATATATTATATATTATATTTATGTAATATATAATATATATTTATATA TTATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATAT TTATATATATTTATGTAATATATAATATTTATATATTATATTTATGTAAT ATATAATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0002 a0002c0029t0002	a0002c0029t0002g0036 a0002c0029t0002g0036	1	59	0.0169	509	c.213 others(528): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATATATAAATATTATATATTACAT AAATATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAAT ATTATATATTACATAAATATAATATATAAATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATATATT ATATATTACATAAATATAATATATAATATATATTATATATTACATAAATA TAATATATAATATATATTATATATTACATAAATATAATATATAATATATA TTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(502): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAA TATTTATATATATTTATGTAATATATAATATTTATATATTATATTTATGT AATATATAATATTTATATATTATATTTATGTAATATATAATATTTATATA TTATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATAT AATATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0042 a0001c0009t0004g0042	1	59	0.0169	509	c.213 others(528): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATTATAT ATTACATAAATATAATATATAAATATTATATATTACATAAATATAATATA TAAATATTATATATTACATAAATATATATAAATATTATATATTACATAAA TATAATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAAT ATTATATATTACATAAATATAATATATAAATATTATATATTACATAAATA TAATATATAATATATATTATATATTACATAAATATAATATATAATATATA TTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar

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