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
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(714): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGC GGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG GGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGG GGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGG GAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	220	0.0045	721	c.630 others(736): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCT GGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGC TCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCG GGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG GGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(714): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGG AGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGG GAGGGGAGTGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGGAGGGGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGGAGGGGA AGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGG GAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0038 a0002c0004t0038	a0002c0004t0038g0212 a0002c0004t0038g0212	1	97	0.0103	721	c.923 others(740): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCC CTCCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCACTCCCCTCCCCC TCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCT CCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	35957905	G G	GTCACCAC others(714): Show GTCACCACCACCACTGCTATAACCATCACCACCGCTATAACCACCATCAC CACCACCACTACCACTACTGTAACCATCACCACCATCACTGCTATAACCA CCACCACCACCACTATAACCATCACCACCATCACCACTATAACCACCACT ACCACCACCACCACTATAACCACCACCACCACCACTATAACCACCATCAT CATCACCACCACTACCACTACTGTAACCATCACCACCACCACTGCTATAA CCATCACCACTACCACTACTACCACTACTACAACCATTACCACCATCACT GCTATAACCACCACCACCACCACCATTATCACCATCACCATCACACACCA CAACTACCACCACCACCACCATCACCACTATAACCACTAGCACCACCACT ACTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCAC TACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTA TAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCATT ATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTAC CACTACTGTAACCATCACCACCATCACCACTATAACCACCACTACCACCA CCACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACC ACCACTACCACTACTGTAACCA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0016	1	227	0.0044	721	c.724 others(740): Show c.724-10449_724-10448insTGGTTACAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTACAGTAGTGGTAG TGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATG GTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGT GGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGG TAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGTAGTG GTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTGTGGT GTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGCAGTG ATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGGTTAT AGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGATGA TGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTG GTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGT TATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGGTGA TGGTGGTTATAGCGGTGGTGATGGTTATAGCAGTGGTGGTGGTGA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(714): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGACGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTTCAGGA GGACGTCTTTAGCAACCCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGATGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAGCCTAT TAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATGAAATG GGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGCAGTGG CTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG02818.hp1 others(1): Show HG02145.hp2 HG02647.hp1 HG02818.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0002t0017 a0001c0002t0020 others(1): Show a0001c0002t0005 a0001c0002t0017 a0001c0002t0020 a0001c0003t0013	a0001c0002t0005g0232 a0001c0002t0017g0309 a0001c0002t0020g0197 others(1): Show a0001c0002t0005g0232 a0001c0002t0017g0309 a0001c0002t0020g0197 a0001c0003t0013g0354	4	274	0.0146	721	c.26 others(732): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTAGAGGGACA GGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATAGCTC ACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTCTGCCT GACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAACGACG AGGCCCCAAGATGGGTCCTCAAGGACCCATCTCCTTTTTGGTCCTTGAGG ACATGTTACCAAAGTATGGGGGGTTGCTAAAGACGTCCTCCTGAAATGTC CACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTGAGCCC ACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGGGATGA GCACGTCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGGGTCTTG TCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGACTTGTGT CTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACTCCTGA GGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(714): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCA CTTCATCCTCGTTTATCCCTGCCCACTGAGACGTGCTCATCCCCAGTCTG TTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGTGT CTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGAGG ACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCAAA AAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTGTC ACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGTCAGGCAGAGCTGGTTC TAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTGTGC CACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAAAAA AAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAGCCTAT TAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATGAAATG GGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGCAGTGG CTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0028 a0001c0001t0029g0028	1	271	0.0037	721	c.26 others(732): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGG ACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATAG CTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTCTG CCTGACCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAACGA CGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCCTTGA GGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGGAATG TCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTGAGC CCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGGGAT GAGCACGTCTCAGTGGGCAGGGATAAACGAGGATGAAGTGGGGGTCTTGT CTTAGTCCCGATTTTTCTGACCATCCCTTGAGCTGCAGACAGACTTGTGT CTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACTCCTGA GGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DIDO1_chr20_62872743_62931505	62875236	C C	CCACCCCC others(714): Show CCACCCCCCACCCCCCACCCGCACCCGCACCCCCCACCCCCACCCGCACC CCCACCCCCACCCCCACCCGCACCCCCACCCCCCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCACCCACCCCCACCCG CACCCCCACCCCCACCCCCACCCCCCACCCGCACCCCCACCCCCCACCCC CACCCCCACCCCCACCCCACCCCCACCCCGCACCCCCACCTCCCACCCCC ACCCCCACCCCCACCCCCCACCCCCACCCCCCACCCCCGCACCCCCCACC CCCACCACCCCCACCCGCACCCGCACCCGCACCCCACCCGCACCCCCACC CCCACCCCCACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCG CACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCA CCCGCACCCGCACCCCCCACCCGCACCCCCACCCCCCACCCCCACCCGCA CCCGCACCCCCCACCCGCACACCGCACCCCCACCCCGCACCCCCACCCCC ACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCCGCACCCCCACCCCCCCCACCCTCACCCGCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCTCACCCCCCACCCTCACCCGCACCCGCA CCCCCACCCTCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	313	0.0032	721	c.39 others(732): Show c.3996_*3997insAGGGTGGGGGTGAGGGTGGGGGTGCGGGTGCGGG TGAGGGTGGGGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGT GCGGGTGAGGGTGGGGGGGGTGGGGGTGCGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGT GCGGGGTGGGGGTGCGGTGTGCGGGTGGGGGGTGCGGGTGCGGGTGGGGG TGGGGGGTGGGGGTGCGGGTGGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGTGGGGGTGGGGGGTGC GGGGGTGGGGGGTGGGGGTGGGGGGTGGGGGTGGGGGTGGGGGTGGGAGG TGGGGGTGCGGGGTGGGGGTGGGGTGGGGGTGGGGGTGGGGGTGGGGGGT GGGGGTGCGGGTGGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGTGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGG GGGTGGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGGTGCGGGTGCGGGTGGGGGGTGGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2506		chr20	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGAGGAGG others(714): Show AGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGG AGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGGAGG AGGGGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAGG AGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGAGAGGAGGGGAGGAGG GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGGAGGAGGGAGGAGGAGGGG GAGGAGGGGAGGAGGGGAGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGTGGAGGAGGTGG GGAGGTGGAGAGAGGAGGAGGGAGGAGGAGGAGGGGAGGAGGAGGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGGTGAAGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGGGTGGAGGAGGAGGAGGAGGAGGGAGAGGAGGAGGAGGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGTGG AGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0175 a0003c0175	a0003c0175t0002 a0003c0175t0002	a0003c0175t0002g0051 a0003c0175t0002g0051	1	214	0.0047	721	c.118 others(740): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCAC CTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCTCCTCTCCCTCCTCCTCCTCCTCCTCCACCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTTCACCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCCTCCTCCTCCCCTCCTCCTCCTCCCTCCTCCTCTCTCCACCTCCCCAC CTCCTCCACCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCCTCCTCCTCCTCCTCCCCTCCTCCCCTCCTCCCCC TCCTCCTCCCTCCTCCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTC CTCCCCTCCTCTCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTC CCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCCCCTCCTC CCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCC CTCCTCCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPEP1_chr16_89608642_89643433	89635153	C C	CCGTTCCT others(714): Show CCGTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	196	0.0051	721	c.105 others(736): Show c.105-754_105-753insGTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FLT3_chr13_27998274_28105576	27998958	A A	AATATATA others(714): Show AATATATATTTATATACATATAAATATATATGTATATACATATAAATATA TGTATATACATATAAATATATATGTATATACATATAAATATATATGTATA TACATATATATATGTATATACATATATATATATGTATATACATATATATA TGTATATACATATATATATATGTATATACATATAAATATATATGTATATA CATATAAATATATATGTATATACATATAAATATATATGTATATACATATA AATATATATGTATATACATATAAATATATATGTATGTATATTATATACAT ATAAATATATATATTTATATACATATAAATATATATATTTATATACATAT AAATATATATATTTATATACATATAAATATATATATTTATATACATATAA ATATATATATTTATATACATATAAATATATATTTATATACATATAAATAT ATATTTATATACATATAAATATATATTTATATACATATAAATATATATTT ACATACATATAAATATATATTTACATACATATAAATATATACATTTATAT ACATATAAATATATACATATATACATATAAATATATATTTATATACATAT AAATATATATATTTATATATATTTATATATATATAAATATATATATATTT ATATATATATAAATATATATATATTTATATATATATAAATATATATATAT TTATATATATATACATATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01516.hp1 HG01517.hp2 HG00735.hp1 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0002g0019 a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0002g0019	3	97	0.0309	721	c.50 others(732): Show c.5093_*5094insATTTATATGTATATATATATAAATATATATATAT TTATATATATATAAATATATATATATTTATATATATATAAATATATATAT ATTTATATATATATAAATATATATAAATATATATATTTATATGTATATAA ATATATATTTATATGTATATATGTATATATTTATATGTATATAAATGTAT ATATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATATTT ATATGTATATAAATATATATTTATATGTATATAAATATATATTTATATGT ATATAAATATATATTTATATGTATATAAATATATATATTTATATGTATAT AAATATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAATA TACATACATATATATTTATATGTATATACATATATATTTATATGTATATA CATATATATTTATATGTATATACATATATATTTATATGTATATACATATA TATTTATATGTATATACATATATATATATGTATATACATATATATATGTA TATACATATATATATATGTATATACATATATATATGTATATACATATATA TTTATATGTATATACATATATATTTATATGTATATACATATATTTATATG TATATACATATATATTTATATGTATATAAATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4315		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998959	A A	ATATATAT others(714): Show ATATATATTTATATACATATAAATATATATGTATATACATATAAATATAT GTATATACATATATATATATGTATATACATATAAATATATATGTATATAC ATATATATATGTATATACATATAAATATATATGTATATACATATATATAT GTATATACATATATATATATGTATATACATATAAATATATATGTATATAC ATATAAATATATGTATATACATATAAATATATATGTATATACATATAAAT ATATATGTATATACATATAAATATATATGTATGTATATTATATACATATA AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATTTACA TACATATAAATATATATTTACATACATATAAATATATACATTTACATACA TATAAATATATACATATATACATATAAATATATACATATATACATATAAA TATATATTTATATACATATAAATATATATATTTATATATATTTATATATA TATAAATATATATATATTTGTATATATATATAAATATATATATATTTATA TATATATAAATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19078.hp1 HG00673.hp1 NA19078.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0007c0015 a0004c0005 a0007c0015	a0004c0005t0001 a0007c0015t0001 a0004c0005t0001 a0007c0015t0001	a0004c0005t0001g0265 a0007c0015t0001g0053 a0004c0005t0001g0265 a0007c0015t0001g0053	2	278	0.0072	721	c.50 others(732): Show c.5092_*5093insAATATATATATATTTATATATATATAAATATATA TATATTTATATATATATACAAATATATATATATTTATATATATATAAATA TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TATGTATATATTTATATGTATATATGTATATATTTATATGTATGTAAATG TATATATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATATTTATATGTATATA ATATACATACATATATATTTATATGTATATACATATATATTTATATGTAT ATACATATATATTTATATGTATATACATATATTTATATGTATATACATAT ATATTTATATGTATATACATATATATATATGTATATACATATATATATGT ATATACATATATATTTATATGTATATACATATATATATGTATATACATAT ATATTTATATGTATATACATATATATATATGTATATACATATATTTATAT GTATATACATATATATTTATATGTATATAAATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4314		chr13	TogoVar
FTCD_chr21_46131779_46160579	46134455	C C	CAGGTTTA others(714): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCA GGTTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTT TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGGTGAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAG GGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAG GGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTC AGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGGTGAG GGTGAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT TTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTC AGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAG GGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	204	0.0049	721	c.25 others(732): Show c.2531_*2532insAAACCTGACCCTCACCCTGACCCTAAACCTGACC CTCACCCTGACCCTAAACCTGACCCTCACCCTGACCCTGACCCTGACCCT AAACCTGACCCTGACCCTAAACCTGACCCTGACCCTAAACCTGACCCTCA CCCTAAACCTGACCCTCACCCTCACCCTGACCCTCACCCTCACCCTGACC CTCACCCTCACCCTCACCCTCACCCTGACCCTAAACCTGACCCTCACCCT CACCCTCACCCTCACCCTAAACCTGACCCTCACCCTCACCCTCACCCTGA CCCTGACCCTGACCCTCACCCTAAACCTGACCCTCACCCTGACCCTGACC CTAAACCTGACCCTGACCCTGACCCTAAACCTGACCCTGACCCTGACCCT AAACCTGACCCTCACCCTCACCCTCACCCTCACCCTCACCCTGACCCTAA ACCTGACCCTCACCCTGACCCTAAACCTGACCCTCACCCTGACCCTAAAC CTGACCCTGACCCTGACCCTGACCCTCACCCCTAAACCTGACCCTCACCC TAAACCTGACCCTCACCCTCACCCTCACCCTGACCCTAAACCTGACCCTC ACCCTCACCCTGACCCTAAACCTGACCCTCACCCTCACCCTGACCCTAAA CCTGACCCTCACCCTGACCCTAAACCTGACCCTCAACCTGACCCTCACCC TGACCCTGACCCTGACCCTGACCCTGACCCTAAACCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2323		chr21	TogoVar
FTCD_chr21_46131779_46160579	46144472	C C	CTCCCCCC others(714): Show CTCCCCCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCC CTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCC CTCCCCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCC TCCCCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCCCTC CCTCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTC CCTCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCC CCCTTTCTCCTTCCCGCTCCCTCTCTCCCCCTTTCTCCCTCTCTCTCCCT CCCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTC CCTCCCCCTCCCTCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCC CTGTCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCC CCCTCCCTCTCTCCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCTC CCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTC CTTCTCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTC CCCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTC CTCCCCTCTCTCCCACCCTCTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	214	0.0047	721	c.126 others(738): Show c.1260+944_1260+945insCAGAGGGTGGGAGAGAGGGGAGGAAGGA AAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGGGGGGAGAGG GAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAGAGAGGGAGAAGGAGGTG GGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGG GGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGGAGAGAGGGAGGGGGGAGA GGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGGGGAGACAGGGAGGA AGAGAGGGGAGGATGGAGAGAGGGGAGAGAGAGGGAGGGGGAGGGAGAGA GAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGGAGGGAG AGAGAGGGAGAAAGGGGGAGAGAGGGAGCGGGAAGGAGAAAGGGGGAGGG AGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGAGGGAGAGG GGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGAGGGAGGGA GAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGGGGAGGGAGG GAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGG AGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAG GGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGGGGGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144472	C C	CTCCCCCC others(714): Show CTCCCCCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCC CTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCC CTCCCCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCC TCCCCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCC TCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTC TCCCTCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCT CCCCCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCC TCCCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCT CCCTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCC TGTCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCC CCTCCCTCTCTCCCCCTGCCCTCTCTCCCCCCCTCCCTCTCTCCCCCCTC CCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTC CTTCTCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTC CCCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTC CTCCCCTCTCTCCCACCCTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	214	0.0047	721	c.126 others(738): Show c.1260+944_1260+945insCAGAGGGTGGGAGAGAGGGGAGGAAGGA AAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGGGGGGAGAGG GAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAGAGAGGGAGAAGGAGGTG GGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGG GGAGAGAGGGAGGGGGGGAGAGAGGGCAGGGGGAGAGAGGGAGGGGGGAG AGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGGGGAGACAGGGAGG AAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGGGAGGGAGAGAG AGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGGAGGGAGA GAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGGGGGAGGGAG AGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGG GAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGA GAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGGGGAGGGAGG GAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGG AGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAG GGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGGGGGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(714): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCT CCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCAC CCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCC CTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTC TCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCT CCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCC TCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCT CCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CCCTGCCCTCTCTCCCCCCCCCTCTCCCCCCTCCCCCTCTTCCCCTCCCT CTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCC CCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCCCCTCCCCCTCTCCC TCTCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCT CTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	4	0.2500	721	c.126 others(738): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGAGAGGGAGA GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAG AGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAG GGGAAGAGGGGGAGGGGGGAGAGGGGGGGGGAGAGAGGGCAGGGGGAGAG AGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGG GGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGG GGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAG GGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGA GGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGAG GGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGG GGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGG GAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAG GGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGGGA GGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(714): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCCCCCCTCTCCCTCCCCT TTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCT TCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCTC TCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTCC CTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCT CTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCC CCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTC TCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCA TCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTCTC TCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCC CCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTT CTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCTCC CTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCT CTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCT CTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA21309.hp1 HG02109.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0029 a0001c0001 a0003c0029	a0001c0001t0002 a0003c0029t0002 a0001c0001t0002 a0003c0029t0002	a0001c0001t0002g0107 a0003c0029t0002g0117 a0001c0001t0002g0107 a0003c0029t0002g0117	2	5	0.4000	721	c.126 others(738): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAG GGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAG AGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAG GAGAGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGA GAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGG GAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAG AGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAG AGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGA GAGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGG GTAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGA GGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGA GGGAGAGGGGGGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(714): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCC TTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCT CTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTC CCTCTCCCCCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTC TCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCC CTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTCT CCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCAT CCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCCTCTCCTTCTC TCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCC CCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTT CTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCTCC CTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCT CTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCT CTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0009 a0003c0013t0002g0009	1	4	0.2500	721	c.126 others(738): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAG GGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAG AGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAG GAGAGGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAG AGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAG GGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGA GAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGA GAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGGGGGAGAGGGAAGAG AGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGG TAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAG GGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGGGGGGGAAAGGGGAGG GAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(714): Show TCCCCTTTCCCCCCTCTCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTC TCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTC CCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCTCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCAC CCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCC CTCCCCCTCCCTCCCTCTCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTCT CCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTC CTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCT CTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTC CCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC CCTGCCCTCTCTCCCCCCCCTCTCTCCCCCCTCCCCCTCTTCCCTCCCTC TCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCC CCTTTCCCTCCCTCTCCCTCTCTCCTCCCTCTCCCCCCTCCCCCTCTCCC TCTCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCT CTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	4	0.2500	721	c.126 others(738): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGAGAGGGAGA GGGGGAGGGGGGAGAGGGAGGAGAGAGGGAGAGGGAGGGAAAGGGGGGGA GAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGA GGGAAGAGGGGGAGGGGGGAGAGAGGGGGGGGAGAGAGGGCAGGGGGAGA GAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGG GGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAG GGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAA GGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAG AGGGAGAGGGGGAGGGGGGAGAGAGGAGAGGGAGGGAGGGGGAGGGAGAG GGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGG GGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGG GAGGGAGGAGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAGAGA GGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGGG AGGGAGGGAGAGGGGGGAAAGGGGAGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(714): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAACCACCACCACCAC CATAATCACCATCACCACCACCACCATCATCATCATCACCACCACCACCA TCACCACCACCACCACCATCATCATCACCACCACCACCACCATCACCACC ACCACCATCATCACCATCATCACCACCACTATCATCATCATCACCACCAC CATCACCACCACCACCACCATCATCATCACCACCATCACCACCACCATCA TCATCACCACCACCACCATCACCACCACCACCACCATGACCACCACCACC ACCCTCATCACCACCACCACCACCATCACCATTACCACTACCACCGCCAC CATCATCACCACCAGCACCACCAACACCATCATCACCACCACCACCATCA CCACCACCATCCCCATCATCAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	3	0.3333	721	c.116 others(740): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CAATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAACCAC CACCACCACCATAATCACCATCACCACCACCACCATCATCATCATCACCA CCACCACCATCACCACCACCACCACCATCATCATCACCACCACCACCACC ATCACCACCACCACCATCATCACCATCATCACCACCACTATCATCATCAT CACCACCACCATCACCACCACCACCACCATCATCATCACCACCATCACCA CCACCATCATCATCACCACCACCACCATCACCACCACCACCACCATGACC ACCACCACCACCCTCATCACCACCACCACCACCATCACCATTACCACTAC CACCGCCACCATCATCACCACCAGCACCACCAACACCATCATCACCACCA CCACCATCACCACCACCATCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(714): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATC ATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCAC CATCATCATCACCACCATCACCACCACCATCATCATCACCACCACCACCA TCACCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCACC ACCACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGCAC CACCAACACCATCATCACCACCACCACCATCACCACCACCACCACCATCA CCACCACCATCCCCATCATCAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp1 NA19057.hp1 others(1): Show HG02040.hp1 HG02165.hp1 NA19057.hp1 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0004 a0001c0005t0001 a0001c0003t0004 a0001c0005t0001	a0001c0003t0004g0034 a0001c0005t0001g0028 a0001c0005t0001g0030 others(1): Show a0001c0003t0004g0034 a0001c0005t0001g0028 a0001c0005t0001g0030 a0001c0005t0001g0051	4	6	0.6667	721	c.116 others(740): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CAATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCA CCACCACCATCATCATCACCACCACCACCACCATCACCACCACCACCATC ATCACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCAC CACCACCACCATCATCATCACCACCATCACCACCACCATCATCATCACCA CCACCACCATCACCACCACCACCACCATGACCACCACCACCACCCTCATC ACCACCACCACCACCATCACCATTACCACTACCACCGCCACCATCATCAC CACCAGCACCACCAACACCATCATCACCACCACCACCATCACCACCACCA CCACCATCACCACCACCATCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
HCN2_chr19_584881_622159	602167	T T	TCTCCTGC others(714): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACCTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0077 a0001c0077	a0001c0077t0004 a0001c0077t0004	a0001c0077t0004g0382 a0001c0077t0004g0382	1	376	0.0027	721	c.633 others(738): Show c.633-1290_633-1289insTCCTCCTCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(714): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	212	0.0047	721	c.633 others(738): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(714): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03927.hp2 HG02129.hp2 HG03927.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0095 a0001c0001 a0008c0095	a0001c0001t0001 a0008c0095t0001 a0001c0001t0001 a0008c0095t0001	a0001c0001t0001g0141 a0008c0095t0001g0211 a0001c0001t0001g0141 a0008c0095t0001g0211	2	213	0.0094	721	c.633 others(738): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(714): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCCTCTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0024 a0003c0003t0004g0024	1	354	0.0028	721	c.-27 others(732): Show c.-2761_-2760insTGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(714): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATG TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATATTAT TTATATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	70	0.0143	721	c.125 others(738): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTATATATATATTTATATGTATTTATATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATATAT ATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATATTATTTATATATATATTTATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(714): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCT CGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGG ACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGG GTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGC GAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGG GTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGG GTGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	188	0.0053	721	c.153 others(740): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTC GCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGT CCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCCG TGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGAC ACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACT CACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(714): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTCCTC CCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCC CCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCC CTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTC CCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCC CCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCC CCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTC CCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCC CTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCAC CTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCT CCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0128 a0001c0010t0003g0128	1	8	0.1250	721	c.115 others(738): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTC CTCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCC TCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTC CCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCC CTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCC TCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCC TCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCC CTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTG CCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCC CACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCC CCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTCCTC others(714): Show CCCTCCTCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCC TCCTCCCCTCCCTTCCCCCTCCCCCCTCCTCCCCTCCCTCCCCCCTCCTC TTCTTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCACC TCCCCCTCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCACT CCTCCCCCTCCCTCCTCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCTCC CCCTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTTCCCCCTCCT CCTCCCCTCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCTTCCC CCTCCCCTTTCCCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTCCC CCTTCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTTC CCCTTCCCCTCCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCTTACTCT CCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCACCCTCCCCCTTCT CCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCCTTCTCCTCCCCT CCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCCTCCTCC TCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	3	0.3333	721	c.-12 others(740): Show c.-12-17668_-12-17667insTCTCCCTTCCCCCTCCCCCTCCTCCC CTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCCTCCTCC CCTCCCTCCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTTCACCTC CCCCTCCCCCCAATCACCTCCCCCTCCCCCGCTCACCTCCCCCTCCCCCC ACTCCTCCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCTGCCCTTCCCCT CCCTCCTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCCC CTCCCTTTTCCCCCTCCTCCTCCCCTCCCCGTTCCCCCTCCCCCTTCCCC CTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCC CCCTCCCCTCCCCTTCCCCCTCCCCTTTCCCCTCCCCCTTCCCCCTCCCC CTTCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCCTCCC CCTTCCCCTTCCCCCTTCCCCTTCCCCTCCCCTTACTCTCCCCTTCCCCT TCCCCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCAC CCTCACCCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCC TCCCCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCA TCCCCCTCCCCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(714): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGG AGGGGGAGGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGA GGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAG GGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGAGGGGGAGGGGGAGGGA GGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGG AGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0238 a0001c0001t0006g0238	1	8	0.1250	721	c.250 others(736): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCTCCCCTCC CTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCCTCCCCCTCCCCCTCC ACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCC CCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCC CCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTT CCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCA CCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTT CCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(714): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAAATACCAAAATTATCT GGGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGG CTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCC GAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCT TAAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCA ATGCAGTTGCCTTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTC GCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCT CCCGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTA CAGGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATC CGCCTGCCTTGGCCTCCGCAAAGTGCTGGGATTACAGGTGTGAGCCATCG CGCCCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTT TGGATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTC ACACCTGTAATCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0054 a0001c0001t0015g0054	1	295	0.0034	721	c.39 others(732): Show c.3987_*3988insTAAAGTGCTGGATTACAGGTGTGAGCCACCGCAC CTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATAA CTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCACA CCTGTAATCCCAGCACTTTGCGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACA CATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTG GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAA CCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTC CCGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGG TATTTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTA ATTCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(714): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCG CCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTC CCGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTAC AGGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGG GGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCC GCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCG CCCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTG GATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGGTGCGGTGGCTCA CACCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	295	0.0034	721	c.39 others(732): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAAT AACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCA CACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGT CAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCT ACTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTT GCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAG ACTCCGTCTGAAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAAC ACATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCT GGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCA ACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCT CCCGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTG GTATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTA ATTCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MUSK_chr9_110663791_110811558	110690835	T T	TTTATATA others(714): Show TTTATATATAAGTATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATATTATATATAAGTATATATAAATAT ATATATTTATATATAAGTGTATATATATAAATATATATATTTATATATAA GTGTATATATATAAATATATATATTTATATATAAGTATATATAAATATAT ATATTTATATATAAGTATATATAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATATTTAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATATATAAATATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATAATATATAAGTATATATATATATTTAAATATAAGTAT ATATATAAATATATATATTTAAAATATAAGTATATATATAAATATATATA TTTAAATATAAGTATATATATAATATTAATATTATATATTAAATATATAG TATATATATAATATATATATAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0173 a0001c0001t0009g0173	1	324	0.0031	721	c.358 others(738): Show c.358+3567_358+3568insTTATATATAAGTATATATATATTTATAT ATAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTGTATATATATAAATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTATATATAATATAT ATATTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATAT ATATAAATATATATTTAAATATAAGTATATATAAATATATATTTAAATAT AAGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATAA GTATATATATAAATATATATTTAAATATAAGTATATATATAAATATATTT AAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAA ATATATATTTAAATATAAGTATATATATAAATATATATATTTAAATATAA GTATATATATAAATATATATTTAAATATAAGTATAATATATAAGTATATA TATATATTTAAATATAAGTATATATATAAATATATATATTTAAAATATAA GTATATATATAAATATATATATTTAAATATAAGTATATATATAATATTAA TATTATATATTAAATATATAGTATATATATAATATATATATAA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14			chr9	TogoVar
NCOR2_chr12_124319415_124572612	124467515	C C	CTCATCCT others(714): Show CTCATCCTCATCACCCCCATCATCCTCATCACCCCCATCATCCTCATCAC CCCCATCACCCTCATCCTCATCACCCCCATCGTCCTCATCCTCATCACTG TCATCCTCATCCCTCCCCTCATCTTCATCCTCATTACCCCCCTCATCTTC ATCATCTTCACCCCATCATCCTTATCTTCATCACCCCATCACCCTTATCA TCCTCATGACCTCCATCATCCTTATCACCCTCATCATCCTCATCACCCTC ATCCTCATCACCCCATCACCCTCATCTTCATCACCCCCATCACCCTCATC ATCCTTATCCTCATCACCCCCATCATCCTCATCCTTATCACCCCCATCAC CCTCATCCTCATCACCCCTTCATCCTCATCCTCATCACCCCCATCACCCT CATCCTCATCACCCTCTTCACCCTCATCCTCATCACCCTCATCCTCATCA CCCCCCTCATCCTCATCACCCCCCTCATCCTCATCCTCATCACCCCCATC ATCCTCATCACCCTCATCCTCATCACGCCCATCACCCTCATCATCCTCCT CATCACCCTCATCATCCTCATCCTCATCACCCCCATCATCCTCATCCTCA TCACCCTCATCATCCTCATCCTCATCACCCCATCATCCACATCCTCATCA CCCCCATCACCCTCATCCTCATCACCCCCATCATCCTCATCCTCATCACC CCCATCATCCTCATCACCCCCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0118 a0002c0118	a0002c0118t0005 a0002c0118t0005	a0002c0118t0005g0149 a0002c0118t0005g0149	1	11	0.0909	721	c.592 others(738): Show c.592-1230_592-1229insTGGGGGTGATGAGGATGATGGGGGTGAT GAGGATGAGGATGATGGGGGTGATGAGGATGAGGGTGATGGGGGTGATGA GGATGTGGATGATGGGGTGATGAGGATGAGGATGATGAGGGTGATGAGGA TGAGGATGATGGGGGTGATGAGGATGAGGATGATGAGGGTGATGAGGAGG ATGATGAGGGTGATGGGCGTGATGAGGATGAGGGTGATGAGGATGATGGG GGTGATGAGGATGAGGATGAGGGGGGTGATGAGGATGAGGGGGGTGATGA GGATGAGGGTGATGAGGATGAGGGTGAAGAGGGTGATGAGGATGAGGGTG ATGGGGGTGATGAGGATGAGGATGAAGGGGTGATGAGGATGAGGGTGATG GGGGTGATAAGGATGAGGATGATGGGGGTGATGAGGATAAGGATGATGAG GGTGATGGGGGTGATGAAGATGAGGGTGATGGGGTGATGAGGATGAGGGT GATGAGGATGATGAGGGTGATAAGGATGATGGAGGTCATGAGGATGATAA GGGTGATGGGGTGATGAAGATAAGGATGATGGGGTGAAGATGATGAAGAT GAGGGGGGTAATGAGGATGAAGATGAGGGGAGGGATGAGGATGACAGTGA TGAGGATGAGGACGATGGGGGTGATGAGGATGAGGGTGATGGGGGTGATG AGGATGATGGGGGTGATGAGGATGATGGGGGTGATGAGGATGA	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48			chr12	TogoVar
NFATC1_chr18_79390930_79534323	79473629	G G	GTTGCAAG others(714): Show GTTGCAAGGGAAGCGTGTTCTCACACTCACTGTCGACGTTGTGAGGGAAG TGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACGCT CACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTCACTGTCAAC GTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGTGA GGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAAGC GTGTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCACACT CACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCAAC GTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAACC TGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGGGA AGCGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTTCT CACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTC ACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACA TTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAA CCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGGAA GCGTGTTCTCTCACTGTCAACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp2 HG02293.hp1 others(14): Show HG01891.hp2 HG01952.hp2 HG02293.hp1 HG02572.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0013 a0001c0028 others(1): Show a0001c0005 a0001c0013 a0001c0028 a0001c0035	a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 others(7): Show a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 a0001c0005t0016 a0001c0005t0036 a0001c0013t0005 a0001c0013t0007 a0001c0013t0056 a0001c0028t0007 a0001c0035t0054	a0001c0005t0004g0058 a0001c0005t0005g0055 a0001c0005t0005g0056 others(14): Show a0001c0005t0004g0058 a0001c0005t0005g0055 a0001c0005t0005g0056 a0001c0005t0005g0083 a0001c0005t0005g0111 a0001c0005t0005g0320 a0001c0005t0011g0131 a0001c0005t0011g0137 a0001c0005t0016g0150 a0001c0005t0036g0276 a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0007g0113 a0001c0013t0056g0110 a0001c0028t0007g0127 a0001c0035t0054g0312	17	311	0.0547	721	c.209 others(740): Show c.2092+6068_2092+6069insACACTCACTGTCGACGTTGTGAGGGA AGTGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACG CTCACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTCACTGTCA ACGTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGT GAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAA GCGTGTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCACA CTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCA ACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAA CCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGG GAAGCGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTT CTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGC TCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGA CATTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTA AACCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGG AAGCGTGTTCTCTCACTGTCAACTTTGCAAGGGAAGCGTGTTCTC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79473629	G G	GTTGCAAG others(714): Show GTTGCAAGGGAAGCGTGTTCTCACACTCACTGTCGACGTTGTGAGGGAAG TGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACGCT CACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTCACTGTCAAC GTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGTGA GGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAAGC GTGTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCACACT CACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCAAC GTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAACC TGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGGGA AGCGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTTCT CACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGTGTGTTCTCACGCTC ACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACA TTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAA CCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGGAA GCGTGTTCTCTCACTGTCAACT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG02895.hp1 others(1): Show HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0011 a0001c0005t0009 a0001c0005t0011	a0001c0005t0009g0136 a0001c0005t0011g0138 a0001c0005t0011g0139 others(1): Show a0001c0005t0009g0136 a0001c0005t0011g0138 a0001c0005t0011g0139 a0001c0005t0011g0142	4	298	0.0134	721	c.209 others(740): Show c.2092+6068_2092+6069insACACTCACTGTCGACGTTGTGAGGGA AGTGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACG CTCACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTCACTGTCA ACGTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGT GAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAA GCGTGTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCACA CTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCA ACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAA CCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGG GAAGCGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTT CTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGTGTGTTCTCACGC TCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGA CATTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTA AACCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGG AAGCGTGTTCTCTCACTGTCAACTTTGCAAGGGAAGCGTGTTCTC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79473629	G G	GTTGCAAG others(714): Show GTTGCAAGGGAAGCGTGTTCTCACACTCACTGTCGACGTTGTGAGGGAAG TGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACGCT CACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTCACTGTCAAC GTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGTGA GGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAAGC GTGTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCCCACT CACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCAAC GTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAACC TGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGGGA AGCGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTTCT CACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTC ACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACA TTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAA CCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGGAA GCGTGTTCTCTCACTGTCAACT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0025 a0001c0013t0025	a0001c0013t0025g0046 a0001c0013t0025g0046	1	295	0.0034	721	c.209 others(740): Show c.2092+6068_2092+6069insACACTCACTGTCGACGTTGTGAGGGA AGTGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGCGTGTTCTCACG CTCACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCACACTCACTGTCA ACGTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCACTGTCGACATTGT GAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAA GCGTGTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGCGTGTTTTCCCA CTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCA ACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACGTTGTAAA CCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTAAACCTGAGG GAAGCGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGGAAGCGTGTT CTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGC TCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGA CATTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTA AACCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACCTGAGGG AAGCGTGTTCTCTCACTGTCAACTTTGCAAGGGAAGCGTGTTCTC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494355	G G	GCCCCCCA others(714): Show GCCCCCCATGAACCTGGTGTGGCCGGGGGAAGGCGAGAACGGGCACACGC CCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATG AACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAA CCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGT ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCC GGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGG GAAGGCGAGAGCGGGCACACGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0031 a0008c0031	a0008c0031t0004 a0008c0031t0004	a0008c0031t0004g0011 a0008c0031t0004g0011	1	307	0.0033	721	c.278 others(740): Show c.2782+7426_2782+7427insGAACCTGGTGTGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGG CACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC ATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT CGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA ACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAAC CTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(714): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACTGTGTATATATACACAGTATGTATACTGCATA CAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATACAT ACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATATATACACTATACAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACAATACAGTATGTATACTGTATATATACACA ATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTA TACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0026 a0002c0006t0007g0026	1	118	0.0085	721	c.-75 others(740): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACT GTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTA TACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATG CAGTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACATACAGTATACATACATACAGTATACATACATACAGTATACATG CTGTATACAGTATACATGCTGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
RASA3_chr13_113972783_114137623	114044335	C C	CCCCGCCC others(714): Show CCCCGCCCCGCCTCACTCGCTGAGCTCCCCCGCCCCGCCTCACTCGCTGA GCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCG CTGAGCTCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCGCCTCA CTCGCTGAGCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCAC TCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCA CTCGCTGAGCTCCCCCCCGCGTCACTCGCTGAGCCCCCCGCCCCGCCTCA CTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTC ACTCGCTGAGCTCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCC GCCTCACTCGCTGAGCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCG CCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGC CCCGCCTCACTCGCTGAGCTCCCCCCCCCCGCCTCACTCGCTGAGCTCCC CCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCC CCCCCCGCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCTC ACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCG CCTCACTCGCTGAGCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0006 a0004c0008t0002g0006	1	41	0.0244	721	c.278 others(738): Show c.278-3242_278-3241insCGGGGGGGCTCAGCGAGTGAGGCGGGGC GGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCG GGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGCGGGGGGGGCTCA GCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGAGC TCAGCGAGTGAGGCGGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGG GGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGC GGGGGGCTCAGCGAGTGAGGCGGGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGAGCTCAGCGAGTGAGGCG GGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGC GGGGCGGGGGGCTCAGCGAGTGACGCGGGGGGGAGCTCAGCGAGTGAGGC GGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGG CGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGCTCAGCGAGTGAGGC GGCGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGAGCTCAGCGAGTG AGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCG AGTGAGGCGGGGCGGGGGAGCTCAGCGAGTGAGGCGGGGCGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RPA3_chr7_7631518_7723607	7678857	T T	TATATTTA others(714): Show TATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19076.hp2 NA19004.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0274 a0001c0001t0003g0262 a0001c0001t0003g0274	2	306	0.0065	721	c.-75 others(740): Show c.-758+6972_-758+6973insGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATA TGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTA AATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAA ACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTT ATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATAT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATA AACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCGB1C1_chr11_188078_199575	196287	G G	GGGGACAT others(714): Show GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGG GGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCT TGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGG CCTTGGTGAGGGGACCTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	1	352	0.0028	721	c.18 others(732): Show c.1837_*1838insGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGA GGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1713		chr11	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(714): Show CCCCCTCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCACCCCCTTCCCCCCTCCCCCCCCTCCCCACCCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCCCTCCCCACCCCTTC CCTCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	40	0.0250	721	c.77- others(738): Show c.77-45382_77-45381insTCCCCCTCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCC CCTCCCCCTTCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCCACCCCCTTCCCCCCTCCCCCCCCTCCCCAC CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCACCCCTTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCC CTCCCCACCCCTTCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTTCCCTTCCCCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(714): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCC CCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0113 a0001c0001t0012g0113	1	117	0.0085	721	c.77- others(738): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(714): Show CCCCCTCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCACCCCCTTCCCCCCTCCCCCCCCTCCCCACCCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCCCTCCCCACCCCTTC CCTCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	45	0.0222	721	c.22+ others(738): Show c.22+36329_22+36330insTCCCCCTCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCC CCTCCCCCTTCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCCACCCCCTTCCCCCCTCCCCCCCCTCCCCAC CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCACCCCTTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCC CTCCCCACCCCTTCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTTCCCTTCCCCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(714): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCC CCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0093 a0001c0001t0010g0093	1	121	0.0083	721	c.22+ others(738): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(714): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGA CGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCC TCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTT TGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCG AACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCT CCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTG CAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	179	0.0056	721	c.55 others(732): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAACATAGG TATCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTG TTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCA ATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACT ATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTG GTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTG ACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCA TTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(714): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGA CGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCC TCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTT TGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCG AACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCT CCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTG CAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG06807.hp2 HG02145.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0208 a0001c0002t0002g0020 a0001c0002t0002g0208	2	180	0.0111	721	c.55 others(732): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGG TATCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTG TTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCA ATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACT ATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTG GTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTG ACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCA TTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(714): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTTG GCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGA CGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCC TCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTT TGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCG AACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCT CCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTG CAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	179	0.0056	721	c.55 others(732): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAACAAACAAAAACATAGGTATC TTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTG TTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCA ATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACT ATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTG GTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTG ACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCA TTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGCC others(714): Show GGGGGGCCTGGAGGCACAAGGCAGGAAAGGCACTGGGTGGGGGGCCTGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG GGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTTAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCTGGAGGGTTAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCGCTGGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	312	0.0032	721	c.115 others(738): Show c.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTAACCCTCCAGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT CCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCC CCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTAACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGG CCCCCCACCCAGTGCCTTTCCTGCCTTGTGCCTCCAGGCCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(714): Show GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGGAGGGT GGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAG GGCAGAGGAGGGGAGAGGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGA AGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGAGGGGGAAGG GGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAG GGGGGAGGGGAGGAGGGAGGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGG GGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGGGAGGAG GGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGA AGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGGAGGGGGAGGCGAAGGGG GAGGAGGGAGGGGAGAGGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGG GAGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGG GGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	721	c.12 others(732): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCTCCCCCTCCCTCCT CCCCTCCCTCCTCCCCTCCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCCTCCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTTCCCCTCCCCTC CCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCC TCCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCC CCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCC CCTCCCCCTCCCCTCCCCCCTCCCTCCTCCCCTCCCCCCTCCCCCTCCCC TTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCC CTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTG CCCTCCCCTCCCTCCTCCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTC CTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCC TCCTTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(714): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGGAGGGGAGGCGAAGGGG GAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGG AGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGG GGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	721	c.12 others(732): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCCTTCCCCTCCCCT CCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCT CCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCT CCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCC CTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCT TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar

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