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
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(613): Show GGGGGGTTGGGTGGGGGGTTGGGGGGTTGGGTGAGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTT TGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTT GGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGG GGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGTGAGGGGG GTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGAG GGGGGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0231 a0004c0008t0001g0231	1	164	0.0061	620	c.464 others(633): Show c.464+91_464+92insTGGGGGGTTGGGGGGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGG GGGGGTTTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTG GGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTG AGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGT GAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTT GAGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTG TTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3976595	G G	AGGGTCCC others(613): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCCA GAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0059 a0003c0001t0059	a0003c0001t0059g0026 a0003c0001t0059g0026	1	52	0.0192	620	c.199 others(639): Show c.1994+2049_1994+2050insAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGA GGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SGCZ_chr8_14079845_15243431	14766229	T T	TGATTACA others(613): Show TGATTACAGGCATGAGGCATGGCCCCCAGCCAGATAGGCATATTTTTAAG GAAATGCTATTAAATATGGAAAAATAAATATATATATATTATAAGGGTGA CTTGGGGTATAGTTTAGCCAGATTGTATATAATTCTGGAGAAATGTAACT CAAAAGAATTTGTTTACTTATTGGATCTTGTTCTAAATGATGAACGTCTT AAAGATAGGATTATATCTTCAAGATAATACGTTTCTAACAAAATTGCTGA CTTACACAAACTCAACAGATGTTTGTTTAATCAAAAAGACAATAATACTT AATCCATTTTTAGTTTTATTACTTTTAAAAATATATATATTTTTTCTTCT TTAGACAGTGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTACTGCGATC TCGGCTCACTGCAATTTCCACCTCCCAGGCTCAAGCGATTCTTTCACCAC AGCCTCCCAAGTAGCTGGGACCACAGGCACCTGTCACCATGTCCAGCTAT TTTTTTTTTTTTTTTTTTTTTTTGTATTTTTGGGAGAGATGGGGTTTTGC CACGTTGCCCAGGCTGGTCTCCATCTACTGAGCTCAAACAGTCTGCCCGC CTCGGCCTCCTAAAGTGCTGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0065 a0001c0001t0048 a0001c0001t0065	a0001c0001t0048g0051 a0001c0001t0065g0047 a0001c0001t0048g0051 a0001c0001t0065g0047	2	102	0.0196	620	c.40- others(639): Show c.40-211304_40-211303insCCAGCACTTTAGGAGGCCGAGGCGGG CAGACTGTTTGAGCTCAGTAGATGGAGACCAGCCTGGGCAACGTGGCAAA ACCCCATCTCTCCCAAAAATACAAAAAAAAAAAAAAAAAAAAAAAATAGC TGGACATGGTGACAGGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGTGGT GAAAGAATCGCTTGAGCCTGGGAGGTGGAAATTGCAGTGAGCCGAGATCG CAGTACTGCACTCCAGCCTGGGTGACAGAATGAAACACTGTCTAAAGAAG AAAAAATATATATATTTTTAAAAGTAATAAAACTAAAAATGGATTAAGTA TTATTGTCTTTTTGATTAAACAAACATCTGTTGAGTTTGTGTAAGTCAGC AATTTTGTTAGAAACGTATTATCTTGAAGATATAATCCTATCTTTAAGAC GTTCATCATTTAGAACAAGATCCAATAAGTAAACAAATTCTTTTGAGTTA CATTTCTCCAGAATTATATACAATCTGGCTAAACTATACCCCAAGTCACC CTTATAATATATATATATTTATTTTTCCATATTTAATAGCATTTCCTTAA AAATATGCCTATCTGGCTGGGGGCCATGCCTCATGCCTGTAATC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(613): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAGGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GAGAAGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGG AGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAG GAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAA GAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGA GGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAA GGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG03654.hp2 HG00140.hp1 HG00642.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140	3	4	0.7500	620	c.624 others(635): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCTTCCCT CCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCT CCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTC CCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCC CCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTC TATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTT TCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SMYD3_chr1_245744347_246512279	246389626	T T	TGGGGACC others(613): Show TGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCAAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTC ATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTG TAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTG GGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGA AGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCA CCTCGAGGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTAGAAAGCATTCA TTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGT AGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGG GGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAA GTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCAC CTCGAGGTTGAAGTCAGTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	136	0.0074	620	c.165 others(639): Show c.165-34533_165-34532insGAAACTGACTTCAACCTCGAGGTGAT TTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAA CCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGA AACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAG GAGGTCCCCAGAAACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAAT GCTTTCTACAAGGAGGTCCCCTAGAAACTGACTTCAACCTCGAGGTGATT TTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAAC CTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAA ACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGG AGGTCCCCAGAAACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAATG CTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAACCTTGAGGTGATTTT CAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAACCT CGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965324	A A	ACCCCAAT others(613): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGA CCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTC CTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCC CAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAA TCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTG GTCCCCAGTCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0160 a0019c0030t0001g0160	1	185	0.0054	620	c.72+ others(637): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATC CTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCC CAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTC CTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTG GTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTC CCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCC TCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827118	T T	TATATTAT others(613): Show TATATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATT ATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAAAA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACATATATTA TAGTTTATATAATATATAAAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	104	0.0096	620	c.12+ others(635): Show c.12+3676_12+3677insTATAGTTTATATAATATATAAACATATAGT TTATATAATATATAAACATATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAA TATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACATATATTATAGTTTATATAATATATAAACATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(613): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGCGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA19077.hp2 NA18994.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	89	0.0225	620	c.35 others(631): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGCGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(613): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTGTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA19063.hp2 NA18951.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	89	0.0225	620	c.35 others(631): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTGTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(613): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18988.hp1 NA19065.hp1 NA18986.hp2 NA18988.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	90	0.0333	620	c.35 others(631): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(613): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(144): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008	147	234	0.6282	620	c.35 others(631): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(613): Show ATATAGTATTATATATTTTATATACAGTATATATAATATATAGTATTATA TATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAGTA TATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATAT AGTATATATATTATATATATATTTTATATATAGTATATATATTATATAGT ATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATAT TTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTAT ATATATTATATATAGTATATATATTATATATAGTATATATTTTATATATA GTATATATATTATGTATAGTATATATATTATATATAGTATATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATGTATAGTATTATATATTTTATATATAGTATATATATTATGTATAGTA TTATATATTTTATATATATGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0259 a0018c0020t0001g0260 a0018c0020t0001g0259 a0018c0020t0001g0260	2	33	0.0606	620	c.291 others(639): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATAATATATAGTATTATATATTTTATATATAGTATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATATATTTTAT ATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATATT ATATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATA TTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTA TATATATTATATATAGTATATATTTTATATATAGTATATATATTATATAT AGTATATATTTTATATATAGTATATATATTATATATAGTATATATATTAT ATATAGTATATATTTTATATATAGTATATATATTATGTATAGTATATATA TTATATATAGTATATATTTTATATATAGTATATATATTATATATAGTATA TATTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATA TAGTATATATATTATGTATAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(613): Show ATATAGTATTATATATTTTATATACAGTATATATAATATATAGTATTATA TATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAGTA TATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATAT AGTATATATATTATATATATATTTTATATATAGTATATATATTATATAGT ATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATAT TTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTAT ATATATTATATATAGTATATATATTATATATAGTATATATTTTATATATA GTATATATATTATGTATAGTATATATATTATATATAGTATATATTTTATA TATAGTATATATATTATGTATAGTATATATTTTATATATAGTATATATAT TATGTATAGTATTATATATTTTATATATAGTATATATATTATGTATAGTA TTATATATTTTATATATATGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0151 a0006c0008t0001g0151	1	32	0.0313	620	c.291 others(639): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATAATATATAGTATTATATATTTTATATATAGTATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATATATTTTAT ATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATATT ATATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATA TTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTA TATATATTATATATAGTATATATTTTATATATAGTATATATATTATATAT AGTATATATTTTATATATAGTATATATATTATATATAGTATATATATTAT ATATAGTATATATTTTATATATAGTATATATATTATGTATAGTATATATA TTATATATAGTATATATTTTATATATAGTATATATATTATGTATAGTATA TATTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATA TAGTATATATATTATGTATAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(613): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGC CTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTG CCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	177	0.0056	620	c.245 others(637): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGC ATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG GTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(613): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCC TGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTG CCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01261.hp1 others(1): Show HG00741.hp2 HG01175.hp2 HG01261.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0232 a0001c0001t0001g0245 others(1): Show a0001c0001t0001g0206 a0001c0001t0001g0232 a0001c0001t0001g0245 a0001c0001t0001g0246	4	180	0.0222	620	c.245 others(637): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCA TGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG GTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(613): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGG ACAGCGGGGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTG GGAGGGGTGGGAGAACGGGGTGGGGGTGGGACGGGGGTGGGAGAACGGGG TGGGAGCGAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTG GGGGTGAGAGCGGGGTGGGAGAACGGGGAGAGAGAGGGGTGGGGGAATGG GGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTCGGGGAACGGGG TGAGAGCGGGGTGGGGGAACGGGAAGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAG AGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAG CGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGAGAGCGGG GTGGGAGAACGGGGTGGGAGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	4	0.2500	620	c.157 others(639): Show c.1576+1490_1576+1491insGCTCCCACCCCGTTCTCCCACCCCGC TCTCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTTCCCGTTCCCCCACCCCGCTCTCACCCCG TTCCCCGACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCATT CCCCCACCCCTCTCTCTCCCCGTTCTCCCACCCCGCTCTCACCCCCACCC CGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCG TTCTCCCACCCCCGTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCC TGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCAC CCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCC CCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TBCD_chr17_82747065_82950914	82764813	C C	CTGTGCTC others(613): Show CTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGT CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAA GCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGG GTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGT GTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0232 a0001c0002t0022g0232	1	268	0.0037	620	c.333 others(635): Show c.333+795_333+796insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCT TGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTT TTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACA AGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTG TCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTG CTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TERT_chr5_1248167_1300068	1273500	A A	ACCATCCA others(613): Show ACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	129	0.0078	620	c.228 others(639): Show c.2287-1221_2287-1220insCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273665	A A	ACATCAGA others(613): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	373	0.0027	620	c.228 others(639): Show c.2287-1386_2287-1385insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(613): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCT CTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	111	0.0090	620	c.924 others(637): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(613): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	111	0.0090	620	c.924 others(637): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(613): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCCTCTCTGTC TCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTC TCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTC TCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTC TGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTC TGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTC TCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTC TGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTC TCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTC TCTCTGTTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	158	0.0063	620	c.924 others(637): Show c.924-2424_924-2423insGACAGAGAGAGAGAACAGAGAGAGAGAG ACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAG AGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAG AGAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAG AGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAG ACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAG AGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAG ACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAG AGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAG AGGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415743	C C	CTCTCTCT others(613): Show CTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0099 a0001c0003t0003g0099	1	249	0.0040	620	c.924 others(637): Show c.924-2428_924-2427insCAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GAGACAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(613): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCCCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCC TCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCT CTTCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03098.hp2 HG01943.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0276 a0001c0001t0006g0277	2	9	0.2222	620	c.424 others(637): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTC TCCTCCTCCTCTTCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(613): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCTGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCTCCTCTCCTCCTCCTCCCCTCCT CTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTC TTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0325 a0001c0001t0009g0325	1	8	0.1250	620	c.424 others(637): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCTGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCTCCTCTCCTCCTC CTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCT CCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TOX_chr8_58800412_59124147	59092319	A A	ATTATATA others(613): Show ATTATATATATTATATATTATATATACATTATATATATTATATATTATAT ATACATTATATATATTATATATTATATATACATTATATATATTATATATT ATATATACATTATATATATTATATATTATGTATACATTATATATATTATA TATTATGTATACATTATATATATTATATATTATGTATACATTATATATAT TATATATTATGTATACATTATATATATTATATATTATGTATACATTATAT ATATTATATATTATGTATACATTATATATATTATATATTATGTATACATT ATATATTATATATTATGTATACATTATATATATTATATATTATGTATACA TTATATATATTATATATTATGTATACATTATATATATTATATATTATGTA TACATTATATATATTATATATTATGTATACATTATATATATTATATATTA TGTATACATTATATATATTATATATTATGTATACATTATATATATTATAT ATTATGTATACATTATATATATTATATATTATGTATACATTATATATATT ATATATTATGTATACATTATATATATTATATATTATGTATACATTATATA TATTATATATTATGTATACAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02486.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG02486.hp1 HG02965.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0192 a0001c0001t0003g0168 a0001c0001t0003g0169 others(3): Show a0001c0001t0002g0192 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0190 a0001c0001t0003g0191	6	135	0.0444	620	c.102 others(639): Show c.102+26566_102+26567insATGTATACATAATATATAATATATAT AATGTATACATAATATATAATATATATAATGTATACATAATATATAATAT ATATAATGTATACATAATATATAATATATATAATGTATACATAATATATA ATATATATAATGTATACATAATATATAATATATATAATGTATACATAATA TATAATATATATAATGTATACATAATATATAATATATATAATGTATACAT AATATATAATATATATAATGTATACATAATATATAATATATATAATGTAT ACATAATATATAATATATATAATGTATACATAATATATAATATATAATGT ATACATAATATATAATATATATAATGTATACATAATATATAATATATATA ATGTATACATAATATATAATATATATAATGTATACATAATATATAATATA TATAATGTATACATAATATATAATATATATAATGTATACATAATATATAA TATATATAATGTATACATAATATATAATATATATAATGTATATATAATAT ATAATATATATAATGTATATATAATATATAATATATATAATGTATATATA ATATATAATATATATAATGTATATATAATATATAATATATATAA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507129	C C	CATACGTA others(613): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATATATGTATATATACATGTATTATACATACGTAAATGTATAATGTA TATATACATGTATTATACATACGTAAATGTATAATGTATATATACATTAT ACATACGTAAATGTATAATGTATAATGTATATATACATTATACATACGTA AATGTATAATGTATATATACATTATACATACGTAAATGTATATATATACA TTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp1 HG01517.hp1 HG01123.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0189 a0001c0001t0001g0032 a0001c0001t0001g0189	3	371	0.0081	620	c.-23 others(637): Show c.-23+2918_-23+2919insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATACATGTATATATACATTA TACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGT ATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATAC ATGTATATATACATATATACATTTACGTATGTATAATACATGTATATATA CATATATACATTTACGTATGTATAATACATGTATATATACATATATACAT TTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATATACATTTACG TATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGGTGGG others(613): Show CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	68	0.0147	620	c.218 others(637): Show c.2182+106_2182+107insGGTGGGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTG GGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTGGG others(613): Show CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG GGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAG GCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0247 a0001c0003t0018g0247	1	74	0.0135	620	c.218 others(637): Show c.2182+158_2182+159insGGTGGGGCTCGGAGGCTGTGGGATGGGG GTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(613): Show CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGGTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0245 a0001c0003t0003g0245	1	74	0.0135	620	c.218 others(637): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(613): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	177	0.0056	620	c.53+ others(635): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
WDR7_chr18_56646359_57034792	57024899	A A	AACTATGA others(613): Show AACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG GCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGT TATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTA TGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGG AATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGT CCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATG TGAACTATGGTAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTC AGGCAGGAATAGGGATACGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	136	0.0074	620	c.427 others(639): Show c.4270-2071_4270-2070insTATCCCTATTCTCAGGCAGGAATAGG GATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTA TAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACT ATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAG GAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACA TATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATG TCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATAT GTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGT AGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATA GGGATACGTGACTATGATAGTTATGTCCCTTATAGAATTTCACA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(613): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TTCCGCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTC CCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	100	0.0100	620	c.-10 others(637): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCCTTTCCGCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCC CCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF236_chr18_76817557_76977901	76926805	A A	ATATAGTA others(613): Show ATATAGTATAAAGGGTGATTACACAGTGTGTGTGTGTGTATGGTATAAAG GGTGATTAGACAGTGTATATGTGTGTGTGTATGGTATAAAGGGTGATTAG ACAGTGTATATGTGTGTGTGTATGGTATAAAGGGTGATTAGACTGTGTGT ATGGTATAAACGGTGATTAGACTGTGTGTATGATATAAAGGGTGATTAGA CAGTGTGTGTATATGGTATAAAGGGTGATTAGACAGTGTGTGTGTGTATG GTATAAAGGGTGATTAGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCGAGATCGACGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA AATTACCCAGGTGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCAGGAGG GTGAGGGAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCT GAGATGGCACCACTGCACTCTAGTCTGGGCGACTGAGCGAGAGACTGTCT CAAAAAAAAAAAAAGGGTGATTAGACAGTGTGTGTGTATGGTATAAAGGG TGATTAGACAGTATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00609.hp1 others(28): Show HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02523.hp1 HG02698.hp1 HG02965.hp2 HG03486.hp1 NA18612.hp2 NA18950.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19065.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0032 a0002c0004 a0002c0019 others(1): Show a0001c0032 a0002c0004 a0002c0019 a0008c0047	a0001c0032t0004 a0002c0004t0004 a0002c0019t0004 others(1): Show a0001c0032t0004 a0002c0004t0004 a0002c0019t0004 a0008c0047t0004	a0001c0032t0004g0213 a0002c0004t0004g0120 a0002c0004t0004g0151 others(28): Show a0001c0032t0004g0213 a0002c0004t0004g0120 a0002c0004t0004g0151 a0002c0004t0004g0211 a0002c0004t0004g0220 a0002c0004t0004g0221 a0002c0004t0004g0222 a0002c0004t0004g0223 a0002c0004t0004g0224 a0002c0004t0004g0225 a0002c0004t0004g0226 a0002c0004t0004g0227 a0002c0004t0004g0228 a0002c0004t0004g0229 a0002c0004t0004g0230 a0002c0004t0004g0231 a0002c0004t0004g0232 a0002c0004t0004g0233 a0002c0004t0004g0234 a0002c0004t0004g0235 a0002c0004t0004g0237 a0002c0004t0004g0292 a0002c0004t0004g0293 a0002c0004t0004g0294 a0002c0004t0004g0295 a0002c0004t0004g0299 a0002c0004t0004g0302 a0002c0004t0004g0344 a0002c0019t0004g0096 a0002c0019t0004g0215 a0008c0047t0004g0296	31	206	0.1505	620	c.402 others(637): Show c.4028-229_4028-228insAGTATAAAGGGTGATTACACAGTGTGTG TGTGTGTATGGTATAAAGGGTGATTAGACAGTGTATATGTGTGTGTGTAT GGTATAAAGGGTGATTAGACAGTGTATATGTGTGTGTGTATGGTATAAAG GGTGATTAGACTGTGTGTATGGTATAAACGGTGATTAGACTGTGTGTATG ATATAAAGGGTGATTAGACAGTGTGTGTATATGGTATAAAGGGTGATTAG ACAGTGTGTGTGTGTATGGTATAAAGGGTGATTAGGGCCGGGTGTGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATCGACGGATCACG AGGTCAGGAGATCGAGATCATCCTGGCTAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAAAATTACCCAGGTGTGGTGGCTGGCGCCTGTAG TCCCAGCTACTCAGGAGGGTGAGGGAGGAGAATGGTGTGAACCTGGGAGG CGGAGCTTGCAGTGAGCTGAGATGGCACCACTGCACTCTAGTCTGGGCGA CTGAGCGAGAGACTGTCTCAAAAAAAAAAAAAGGGTGATTAGACAGTGTG TGTGTATGGTATAAAGGGTGATTAGACAGTATGTGTGTGTAT	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	22/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(614): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCT TCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTC TTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTC CTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCT GTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01256.hp1 HG01258.hp1 HG00099.hp2 HG01256.hp1 HG01258.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0010 a0005c0010t0010	a0005c0010t0010g0140 a0005c0010t0010g0141 a0005c0010t0010g0142 a0005c0010t0010g0140 a0005c0010t0010g0141 a0005c0010t0010g0142	3	206	0.0146	621	c.106 others(640): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGA AGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGG GAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGG GAGGGAAAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAA GAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGG GAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(614): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCCTCACCCTGCACCTCCCCCAATCCTTTACCTCCCCCCAC CCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCT CACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCT CCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTT TACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCC TTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCC GCACCCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03239.hp2 HG02055.hp1 HG03239.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0013 a0001c0001 a0011c0013	a0001c0001t0061 a0011c0013t0001 a0001c0001t0061 a0011c0013t0001	a0001c0001t0061g0182 a0011c0013t0001g0021 a0001c0001t0061g0182 a0011c0013t0001g0021	2	64	0.0313	621	c.-36 others(632): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAATCC TTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATC CTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCC CCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCA CCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTG CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(614): Show CCGGGTTTTAAGTTTTCTTTCTTTTTTTTTTTTTTTTTTTTGGTCAAAGT TGCCATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTC ACATGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTC ATTTGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTG CAGATAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATA GGTAGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTT CGTGAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTG ATACAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGA ATCACAGTGTTATATTTATTTCCACATATTCTATATTAATAATATAATTT TTAATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATG CAGCTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAG CTTTTATATTTAGATTTAAATATTTCAGTTGCATTTCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTACTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0250 a0001c0002t0005g0250	1	250	0.0040	621	c.122 others(638): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAATGCAACTGAAATATTTAAATCTAAATATAAAAGCTATTT TTAAATGGCTGAAATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATA CTTATAGCAGTTATTGAATGAAAACTTAAAATACATGGAATTAAAAATTA TATTATTAATATAGAATATGTGGAAATAAATATAACACTGTGATTCACAG AACTGGCTGTACTATCTTATGAATCTGCAACAAATTGTCTGTATCAAAAT TTCTTAGTCTGTAAGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTT GGAGATAATGCTCTCCTCTGATCACACAGTTGTTACTTACTACCTATGTG ACCTTTGGTAAAGTATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAAT GGGAATAATCATGTATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTA TGCATTTATATTAATAAAATATTAAGCACCTGTGTAACACATGTGAAGTG AAACATATGTATTTATTTTTAATGATAATAAACAATTAATGGCAACTTTG ACCAAAAAAAAAAAAAAAAAAAAGAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(614): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCC TCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTG CCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCC CCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCT CCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGC CCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCC TCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTC CCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0206 a0001c0002t0008g0206	1	72	0.0139	621	c.273 others(638): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGC CCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCC TCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTC CTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGC CCCCCCTCCCCTCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(614): Show ATATTATATATATAATCTATATTATATATAATATAGATTATATATATAAT CTATATTATATATAATATAGATTATATATATAATCTATATTATATATATA ATCTATATTATATATAATATAGATTATATATATAATCTATATTATATAAT CTATATTATATATAATATAGATTATATATATAATCTATATTATATAATCT ATATTATATATAATATAGATTATATATATAATCTATATTATATAATCTAT ATTATATATAATCTAGATTATATATATAATCTATATTATATAATCTATAT TATATATAATCTATATTATATATATAATCTATATTATATAATCTATATTA TATATAATATAGATTATATATATAATCTATATTATATAATCTATATTATA TATAATATAGATTATATATATAATCTATATTATATAATCTATATTATATA TAATATAGATTATATATATAATCTATATTATATAATCTATATTATATATA ATATAGATTATATATATAATCTATATTATATAATCTATATTATATATAAT ATAGATTATATATATAATCTATATTATATAATCTATATTATATATAATAT AGATTATATATATAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0284 a0001c0002t0007g0284	1	360	0.0028	621	c.37 others(632): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA GATTATATATATAATCTATATTATATATAATATAGATTATATATATAATC TATATTATATATATAATCTATATTATATATAATATAGATTATATATATAA TCTATATTATATAATCTATATTATATATAATATAGATTATATATATAATC TATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTA TATTATATAATCTATATTATATATAATCTAGATTATATATATAATCTATA TTATATAATCTATATTATATATAATCTATATTATATATATAATCTATATT ATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTAT ATAATCTATATTATATATAATATAGATTATATATATAATCTATATTATAT AATCTATATTATATATAATATAGATTATATATATAATCTATATTATATAA TCTATATTATATATAATATAGATTATATATATAATCTATATTATATAATC TATATTATATATAATATAGATTATATATATAATCTATATTATATAATCTA TATTATATATAATATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(614): Show ATATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGT TTATATATACTATATATATAGTTTATATATATATACTATATATAGTTTAT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATACTATATATATACTATATATATAGTTTATATATATACTA TATATATAGTTTATATATATACTATATATATAGTTTATATATATATACTA TATATATAGTTTATATATATATACTATATATATAGTATATATATATATAA ACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATAT ATATATACTATATATATAGTATATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATACTATATATATA GTTTATATATATATATACTATATATAGTTTATATATATATATACTATATA TATAGTTTATATATATATACTATATATATAGTTTATATATATATACTATA TATATAGTTTATATATATATATACTATATATATAGTTTATATATATATAT ACTATATATATAGTTTATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	164	0.0061	621	c.331 others(640): Show c.3314-1170_3314-1169insATATATAAACTATATATATAGTATAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATATAAACTATATATA TAGTATATATATATATAAACTATATATAGTATATATATATATAAACTATA TATATAGTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATATAGTATATATATAT ATAAACTATATATATAGTTTATATATATATAAACTATATATATAGTTTAT ATATATATATACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATATAAACTATATATATAGTATATATATAAACTATATATATAGT ATATATATAAACTATATATATAGTATATATATAGTATATATAAACTATAT ATATAGTATATATATAGTATATATATACTATATATAGTATATATATATAA ACTATATATAGTATATATATATAAACTATATATATAGTATATATAAACTA TATATATAGTATATATATATAAACTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(614): Show GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCAT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	232	0.0043	621	c.202 others(638): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC TGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG TGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(614): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	296	0.0034	621	c.36 others(632): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82970514	T T	TCCTCCGC others(614): Show TCCTCCGCACACAGCGTGGCCGCGACCTCCGCACCCAGCGTGGACTGACC TCCGCACACAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCGCGACCTC CGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCG CACCCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCGCGACCTCCGCA CCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACC CAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCA GCGTGGACTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCG TGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGTGTG GCCGTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGA CTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGC GACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGTGA CCTCCGCACCCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCGTGACC TCCGCACCCAGCGTGGCCGCGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	159	0.0063	621	c.460 others(638): Show c.460-4769_460-4768insTCGCGGCCACGCTGGGTGCGGAGGTCAC GGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCACGG CCACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCC ACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACG CTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCACGGCCACACT GGGTGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGG GTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACGCTGGGTG CGGAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCG GAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGA GGTCGCGGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGG TCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAGGTC GCGGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGTGTGCGGAGGTCAG TCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGTGTGCGGAGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970645	C C	CAGCGTGG others(614): Show CAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCA GCGTGGACTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCG TGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGTGTG GCCGTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGA CTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGC GACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGTGA CCTCCGCACCCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGCCGCGACC TCCGCACCCAGTGTGGCCGTGACCTCCGCACCCAGCGTGGCCGCGACCTC CGCACCCAGCGTGGACTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGC ACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCAC CCAGCGTGGCCGTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCC AGCGTGGCCGCGACCTCCCCACCCAGTGTGGCCGTGACCTCCGCACCCAG TGTGGCTGTGACCTCTGCACAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	206	0.0049	621	c.460 others(638): Show c.460-4900_460-4899insATGTGCAGAGGTCACAGCCACACTGGGT GCGGAGGTCACGGCCACACTGGGTGGGGAGGTCGCGGCCACGCTGGGTGC GGAGGTCACGGCCACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGG AGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGAG GTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACGCTGGGTGCGGAGGTC GCGGCCACGCTGGGTGCGGAGGTCACGGCCACACTGGGTGCGGAGGTCGC GGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCACGG CCACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCC ACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACG CTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCACGGCCACACT GGGTGCGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGG GTGCGGAGGTCACGGCCACGCTGGGTGCGGAGGTCAGTCCACGCTGGGTG CGGAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(614): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATAATTATATATATTTATATATAT ATAATTATATATATATATAAAATTATATATATAATTATATATATTATATA TAATTATATATATAATTTTATATATATAATTATATATATTTATATATATA TATAATTATATATATATATAAAATTATATATATAATTATATATATATTAT ATATAATTATATATATATATTATATATAATTTTATATATATAATTATATA TATAATTTTATATATATAATTTTATATATATAATTTTATATATATAATTT TATATATATAATTATATATATAATTTTATATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTATATATATAATTTTATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18998.hp1 NA18950.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0234 a0001c0001t0001g0002 a0001c0001t0001g0234	2	95	0.0211	621	c.907 others(636): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TAAATATATATAATTATATATATAAAATTATATATATAATTATATATAAT ATATATAATTATATATATAATTTTATATATATATATAATTATATATATAT AAATATATATAATTATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(614): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATAATTATATATATTTATATATAT ATAATTATATATATATATAAAATTATATATATAATTATATATATTATATA TAATTATATATATAATTTTATATATATAATTATATATATTTATATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATATT ATATATAATTATATATATATATTATATATAATTTTATATATATAATTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TTTATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTATATATATAATTTTATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	94	0.0106	621	c.907 others(636): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATAAAATTATATATATAATTATATATATAATTATATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATAAAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATAAAATTATATA TATAAAATTATATATATAAAATTATATATATAAAATTATATATATAATTA TATATATAAAATTATATATAATATATATATATAATTATATATAATATATA TATAATTATATATATAATTTTATATATATATATAATTATATATATATATA TAAATATATATAATTATATATATAAAATTATATATATAATTATATATAAT ATATATAATTATATATATAATTTTATATATATATATAATTATATATATAT AAATATATATAATTATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(614): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATATT ATATATAATTATATATATATATTATATATAATTTTATATATATAATTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TTTATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTATATATATAATTTTATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02293.hp1 HG01123.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0149 a0001c0001t0020g0150 a0001c0001t0001g0149 a0001c0001t0020g0150	2	95	0.0211	621	c.907 others(636): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATAAAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATAAAATTATATA TATAAAATTATATATATAAAATTATATATATAAAATTATATATATAATTA TATATATAAAATTATATATAATATATATATATAATTATATATAATATATA TATAATTATATATATAATTTTATATATATATATAATTATATATATATATA AATATATATAATTATATATATAAAATTATATATATAATTATATATAATAT ATATAATTATATATATAATTTTATATATATATATAATTATATATATATAA ATATATATAATTATATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGGTGGGGTGGAGTGG GGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGC AGGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGG TGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	4	0.2500	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0267 a0001c0001t0024g0267	1	4	0.2500	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACC CCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCA CCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACC CTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	4	0.2500	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCCACCCCTCCCCCACCCCACC CCCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCC CCCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACC CCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCA CCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACC CTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar

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