Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(166): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAG GGGAGGAGAGAGAAAGGGAGGAGA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	250	0.0040	173	c.225 others(190): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGG AGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(166): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GGGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAG GGGAGGAGAGAGAAAGGGAGGAGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	250	0.0040	173	c.225 others(190): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGGGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGG AGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499546	G G	GGTGGTGA others(166): Show GGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGT GGTGGTGGTGATGGAGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG00738.hp2 others(37): Show HG00544.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG02602.hp2 HG02735.hp1 HG03209.hp2 HG03239.hp1 HG03688.hp2 HG03834.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18984.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp2 NA19011.hp1 NA19064.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003 a0001c0005t0001 a0001c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0001t0001g0068 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0148 a0001c0001t0007g0124 a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0047 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0001g0133 a0001c0002t0001g0164 a0001c0002t0002g0071 a0001c0002t0003g0062 a0001c0002t0003g0080 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0249 a0001c0002t0004g0045 a0001c0003t0003g0166 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0082 a0001c0005t0004g0019	40	250	0.1600	173	c.748 others(190): Show c.748+1197_748+1198insTGGTGATGGAGGTGGTGATGGGGGTGGT GGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCG GTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767633	G G	GCGCGTGG others(166): Show GCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGG GGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAG GAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGAGGGGGCACGTGGAGGGGT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19083.hp2 NA19088.hp1 NA19002.hp1 NA19083.hp2 NA19088.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0009c0011t0001 a0001c0001t0001 a0009c0011t0001	a0001c0001t0001g0091 a0001c0001t0001g0201 a0009c0011t0001g0340 a0001c0001t0001g0091 a0001c0001t0001g0201 a0009c0011t0001g0340	3	388	0.0077	173	c.159 others(190): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767633	G G	GCGCGTGG others(166): Show GCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGG GGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAG GAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGATGGGGGCG CGTGGAGGGGGCACGTGGAGGGGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	388	0.0026	173	c.159 others(190): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGATGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767633	G G	GTGCGTGG others(166): Show GTGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGG GGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAG GAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGAGGGGGCACGTGGAGGGGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0152 a0001c0041t0001g0152	1	388	0.0026	173	c.159 others(190): Show c.1596+163_1596+164insTGCGTGGAGGGGGCCGTGTGGGGGGGCG TGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGG CGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCAT GGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGT	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MSLN_chr16_755734_773862	767813	A A	AGGGGGGG others(166): Show AGGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGGCGTGGAGGGGGGTGCG TGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGCGCGTGGGGG GGGGCGCATGGGGGGGGCGTGGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0184 a0009c0011t0001g0184	1	388	0.0026	173	c.159 others(190): Show c.1596+349_1596+350insGCGCGTGGGGGGGGCGCATGGGGGGGGC GTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATG GGGGGGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGCGCGTGGGGGGGGGCGCATGGGGGGGGCGTGGAGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767852	G G	GAGGGGCG others(166): Show GAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTG GAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGAGGG GCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGG GGGGAGCGTGGGGGGCGTGGAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0031 a0005c0005t0001g0031	1	388	0.0026	173	c.159 others(190): Show c.1596+382_1596+383insAGGGGCGCGTGGAGGGGGGAGCGTGGGG GGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTG GGGGGGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCG TGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MSRB3_chr12_65273683_65471907	65396700	A A	AGAAAGAA others(166): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	312	0.0032	173	c.292 others(192): Show c.292+27674_292+27675insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6			chr12	TogoVar
MTCL1_chr18_8700556_8837778	8766121	G G	GGTGTCAT others(166): Show GGTGTCATTTAGAAGACAAAACATGAGATTGATGTGTTTTAAAAGCACGC AGCGGATGCTGCACACAAGAAAGGCGTGGTTAATGAGCACTCCAGGCCTG CGTTTCAGCAGGGTGTGCCAAAGAATGATGCCTCATGCGGCCTCCTCCAT CATCCTCCATGTAGCGCCTGTTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	336	0.0030	173	c.143 others(194): Show c.1438-11576_1438-11575insCGGCCTCCTCCATCATCCTCCATG TAGCGCCTGTTGTGTGTCATTTAGAAGACAAAACATGAGATTGATGTGTT TTAAAAGCACGCAGCGGATGCTGCACACAAGAAAGGCGTGGTTAATGAGC ACTCCAGGCCTGCGTTTCAGCAGGGTGTGCCAAAGAATGATGCCTCATG	MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
MTERF3_chr8_96234402_96266610	96250702	A A	AGGAGGAG others(166): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	294	0.0034	173	c.677 others(188): Show c.677+203_677+204insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTMR6_chr13_25241222_25292488	25264753	C C	CAAAAAAA others(166): Show CAAAAAAAAAAAAAAAAAATACTTGGGAGGCTGAGGCAGGAGAATGGCAT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0038 a0006c0009t0002g0038	1	346	0.0029	173	c.591 others(190): Show c.591+1065_591+1066insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTATTTTTTTTTTTTTTTTTT	MTMR6	ENSG00000139505.13	transcript	ENST00000381801.6	protein_coding	5/13			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(166): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATAATATATATTATATATATAATATATAATATA TATTATATATATAATATATATTATATATAATATATATTATATATATAATA TATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	334	0.0030	173	c.547 others(190): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATTATATATATAATATATATTATATATATTATATATTATATATA TAATATATATTATATATATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(166): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGC GGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAA TGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTG GTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	384	0.0026	173	c.160 others(190): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO1F_chr19_8515778_8582442	8544000	T T	TGGTGGTG others(166): Show TGGTGGTGGTGGTGGTGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTG GCGGTGGCGGTGCGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGCTGGT GCTGGTGGTGGCGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0333 a0001c0001t0006g0333	1	342	0.0029	173	c.152 others(190): Show c.1524+296_1524+297insGCCACCGCCACCGCCACCACCAGCACCA GCACCAGCACCACCACCACCACCACCACCAGCACCACCAGCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCGCACCGCCACCGCCACC GCCACCGCCACCGCCACCGCCACCGCCACCACCACCACCACCACC	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NAGK_chr2_71063648_71084808	71081023	T T	TATTTATT others(166): Show TATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATT TTATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTTATT TCATTTCATTTCATTTTATTTGATTTTATTTTATATTTGATTTGATTTGA TTTGATTTGATTTGATTTGATTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02055.hp2 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0009 a0001c0004t0004g0009	2	442	0.0045	173	c.25 others(184): Show c.2515_*2516insATTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTCATT TCATTTCATTTTATTTCATTTCATTTCATTTTATTTGATTTTATTTTATA TTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTG	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1216		chr2	TogoVar
NCAM2_chr21_20993409_21548329	21331535	A A	ATATATAT others(166): Show ATATATATATATATATACTCTATATACATATATATATACTCTATATACAT ATATATACTCTATATATATACTCTATATATATATATATACTCTATATATA TATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATA TATATATATATATACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0035 a0001c0001t0011g0035	1	132	0.0076	173	c.738 others(190): Show c.738-3970_738-3969insTATATATATATATATACTCTATATACAT ATATATATACTCTATATACATATATATACTCTATATATATACTCTATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATACTCTATATATATATATATATATACTCTCTCTCT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17			chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331568	C C	CATATATA others(166): Show CATATATATACTCTATATATATACTCTATATATATATATATACTCTATAT ATATATATATATATATACTCTCTCTCTCTCCATATATATATATATATACT CTATATATATATATATATACTCTCTCTCTCTCCATATATATATATATATA TACTCTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	132	0.0076	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATATATA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331568	C C	CATATATA others(166): Show CATATATATACTCTATATATATACTCTATATATATATATATACTCTCTCT CTATATATATATATATACTCTCTCTCTCTCCATATATATATATATATACT CTATATATATATATATATACTCTCTCTCTCTCCATATATATATATATATA TACTCTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0127 a0005c0011t0002g0127	1	132	0.0076	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTCTCTCTATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATATATA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(166): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTATAT ATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	132	0.0076	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATACTCTCTCTCTCTCCATATATATATA TATATACTCTATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATATACTCTATATATATATATATATATAGAGAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(166): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTATAT ATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0014 a0004c0013t0002g0014	1	132	0.0076	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATACTCTCTCTCTCTCCATATATATATA TATATACTCTATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATATACTCTATATATATATATATATATATATAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(166): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTATAT ATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0088 a0001c0001t0026g0088	1	132	0.0076	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATACTCTCTCTCTCTCCATATATATA TATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATATACTCTATATATATATATATATATATATAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(166): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	132	0.0076	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATAGAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(166): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	132	0.0076	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(166): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATAT ATATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCT ATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01978.hp1 HG01071.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0016 a0001c0004t0007 a0001c0001t0016 a0001c0004t0007	a0001c0001t0016g0021 a0001c0004t0007g0024 a0001c0001t0016g0021 a0001c0004t0007g0024	2	132	0.0152	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATA TATATATATATATATACTCTATATATATATATATATATAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(166): Show TACTCTATATATATACTCTATATATATATATATACTCTCTCTATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0073 a0002c0002t0004g0073	1	132	0.0076	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTCTCTATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(166): Show TACTCTATATATATACTCTATATATATATATATACTCTCTCTCTATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0034 a0002c0002t0014 a0002c0002t0034	a0002c0002t0014g0119 a0002c0002t0034g0059 a0002c0002t0014g0119 a0002c0002t0034g0059	2	132	0.0152	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTCTCTCTATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATATAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(166): Show TACTCTATATATATACTCTCTATATATATATATATACTCTATATATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATAT ATATATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTAT ATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0009 a0001c0012t0009	a0001c0012t0009g0121 a0001c0012t0009g0121	1	132	0.0076	173	c.738 others(190): Show c.738-3928_738-3927insCTCTATATATATACTCTCTATATATATA TATATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATA TATATATATATATACTCTATATATATATATATATATATATAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158667549	C C	CTCTTACC others(166): Show CTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACTACTGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18955.hp1 NA19003.hp1 HG02735.hp2 NA18955.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0111 a0001c0001t0002g0137 a0001c0001t0002g0091 a0001c0001t0002g0111 a0001c0001t0002g0137	3	378	0.0079	173	c.148 others(192): Show c.1480-2800_1480-2799insAGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667664	T T	TCCTTACC others(166): Show TCCTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCCCTACTGGGTCCCTCCGCCCTCCTTA CCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	378	0.0027	173	c.148 others(192): Show c.1480-2915_1480-2914insCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGGGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGGGTCGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCCTTAC others(166): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACC CTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTA CCGACCCTGGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	378	0.0027	173	c.147 others(192): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAA others(166): Show TTATATAATATATTATATATTATATAATATATATTATATAATATATAATA TATTATATAATATATATTATATAATATATTATATAATATATATTATATAA TATATAATATATATTATATAATATATAATATATAATATATATTATATAAT ATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0186 a0002c0002t0011g0186	1	348	0.0029	173	c.48+ others(188): Show c.48+1021_48+1022insATATAATATATTATATATTATATAATATAT ATTATATAATATATAATATATTATATAATATATATTATATAATATATTAT ATAATATATATTATATAATATATAATATATATTATATAATATATAATATA TAATATATATTATATAATATATAATATATTATATAATATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241819578	C C	CATGCGTG others(166): Show CATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGC ATCCTGTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGC TGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCATGGTGTGTGTGTAGGT CGTGTGCTGGGTGCATCCTGTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0139 a0002c0003t0002g0139	1	319	0.0031	173	c.25 others(184): Show c.2530_*2531insATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGG TCGTGTGCTGGGTGCATCCTGTCATGTGTGTGTCCTGGCTCGTGGCCCGT GTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCAT GGTGTGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCAT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2166		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79400825	C C	CCCCCCCG others(166): Show CCCCCCCGACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCT GTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCC TACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGC CCCCCGACCTCCCCCCGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	322	0.0031	173	c.127 others(190): Show c.127+4479_127+4480insCGACCCCTCCCCCGACCTCCCCCCCGCG CCCCGACCTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGAC CTACACCCCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAA CTCCTCCCCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(166): Show ACCCCTCCCCCGACCTCCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCT CCCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCC CCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGA CCTCCCCCCGCCCCCCTCCCCCGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp2 HG04204.hp2 others(1): Show HG00140.hp1 HG01255.hp2 HG04204.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0017 a0001c0001 a0001c0009 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0009t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0010 a0001c0017t0003	a0001c0001t0001g0275 a0001c0001t0003g0140 a0001c0009t0010g0225 others(1): Show a0001c0001t0001g0275 a0001c0001t0003g0140 a0001c0009t0010g0225 a0001c0017t0003g0185	4	322	0.0124	173	c.127 others(190): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCCGCGCCCCGA CCTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACAC CCCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTC CCCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(166): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCCTACCTCC CCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGA CCTCCCCCCGCCCCCCTCCCCCGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0024 a0003c0007t0024	a0003c0007t0024g0146 a0003c0007t0024g0146	1	322	0.0031	173	c.127 others(190): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTC CCCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(166): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCC CCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGAC CTCCCCCCGCCCCCCCTCCCCCGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04184.hp2 HG00741.hp1 HG04184.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0007 a0002c0003 a0003c0007	a0002c0003t0022 a0003c0007t0001 a0002c0003t0022 a0003c0007t0001	a0002c0003t0022g0205 a0003c0007t0001g0206 a0002c0003t0022g0205 a0003c0007t0001g0206	2	322	0.0062	173	c.127 others(190): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCC CCATCCCGCCCCCCGACCTCCCCCCGCCCCCCCTCCCCCGGCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(166): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCC CCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGAC CTCCCCCCGCCCCCCTCCCCCGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00738.hp2 others(37): Show HG00408.hp2 HG00423.hp2 HG00738.hp2 HG01070.hp2 HG01106.hp2 HG01261.hp1 HG01261.hp2 HG01928.hp2 HG01934.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG03017.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18971.hp2 NA18990.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19056.hp1 NA19079.hp1 NA19079.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0001c0004 a0001c0006 others(14): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0015 a0001c0017 a0001c0029 a0001c0055 a0002c0002 a0002c0003 a0002c0012 a0002c0057 a0003c0007 a0003c0016 a0004c0020 a0013c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0001t0037 a0001c0004t0002 a0001c0004t0003 a0001c0006t0003 a0001c0008t0002 a0001c0009t0014 a0001c0015t0002 a0001c0017t0001 a0001c0029t0004 a0001c0055t0045 a0002c0002t0001 a0002c0002t0009 a0002c0002t0015 a0002c0002t0017 a0002c0003t0001 a0002c0012t0027 a0002c0057t0002 a0003c0007t0008 a0003c0016t0007 a0004c0020t0003 a0004c0020t0012 a0013c0037t0033	a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0219 others(37): Show a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0250 a0001c0001t0001g0274 a0001c0001t0002g0015 a0001c0001t0002g0068 a0001c0001t0003g0172 a0001c0001t0007g0016 a0001c0001t0009g0168 a0001c0001t0016g0173 a0001c0001t0020g0202 a0001c0001t0024g0171 a0001c0001t0037g0181 a0001c0004t0002g0075 a0001c0004t0003g0170 a0001c0006t0003g0167 a0001c0008t0002g0077 a0001c0009t0014g0277 a0001c0015t0002g0067 a0001c0017t0001g0279 a0001c0029t0004g0096 a0001c0055t0045g0008 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0248 a0002c0002t0009g0169 a0002c0002t0015g0249 a0002c0002t0017g0166 a0002c0003t0001g0252 a0002c0012t0027g0040 a0002c0057t0002g0069 a0003c0007t0008g0017 a0003c0007t0008g0019 a0003c0007t0008g0032 a0003c0016t0007g0018 a0004c0020t0003g0188 a0004c0020t0012g0037 a0013c0037t0033g0251	40	322	0.1242	173	c.127 others(190): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCC CCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(166): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCC CCCTCCCCGTGACCTGCCCCCCCGAACTCCTCCCCATCCCGCCCCCCGAC CTCCCCCCGCCCCCCTCCCCCGGC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG03041.hp1 HG01517.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0002c0011 a0001c0018 a0002c0011	a0001c0018t0004 a0002c0011t0002 a0001c0018t0004 a0002c0011t0002	a0001c0018t0004g0303 a0002c0011t0002g0294 a0001c0018t0004g0303 a0002c0011t0002g0294	2	322	0.0062	173	c.127 others(190): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCCGAACTCCTCC CCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(166): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCC CCCTCCCCGTGACCTGCCCCCCCGAACTCCTCCCCATCCCGCCCTCCGAC CTCCCCCCGCCCCCCTCCCCCGGC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0271 a0001c0015t0010g0271	1	322	0.0031	173	c.127 others(190): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCCGAACTCCTCC CCATCCCGCCCTCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(166): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCC CCCTCCCCGTGACCTGCTCCCCCGAACTCCTCCCCATCCCGCCCCCCGAC CTCCCCCCGCCCCCCTCCCCCGGC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0020 a0003c0007t0008g0020	1	322	0.0031	173	c.127 others(190): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCTCCCCCGAACTCCTCC CCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400834	C C	CCCTCCCC others(166): Show CCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCCC CCCGACCTCCCCCTTCCCCCCCCGACCTACACCCCGCCCCCCTACCTCCC CCCTCCCCGTGACCTGCTCCCCCGAACTCCTCCCCATCCCGCCCCCCGAC CTCCCCCCGCCCCCCTCCCCCTGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0012 a0001c0004t0002g0012	1	322	0.0031	173	c.127 others(190): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCCGACCTCCCCCTTCCCCCCCCGACCTACA CCCCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCTCCCCCGAACTCCT CCCCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCTGGCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NOC4L_chr12_132139457_132157468	132148960	C C	CACACCAC others(166): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	294	0.0034	173	c.901 others(186): Show c.901+65_901+66insACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149004	C C	CACACCAC others(166): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	294	0.0034	173	c.901 others(188): Show c.901+109_901+110insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149664	C C	CACACCAC others(166): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	294	0.0034	173	c.901 others(188): Show c.901+769_901+770insACACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149884	C C	CACACCAC others(166): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0233 a0008c0012t0001g0233	1	294	0.0034	173	c.901 others(188): Show c.901+989_901+990insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(166): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGCGGGGG GATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAGGGGGATG GGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACA GTGGGGGGGATGGGCAGGGACAGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0085 a0001c0014t0002g0085	1	324	0.0031	173	c.141 others(190): Show c.141-4415_141-4414insACTGTCCCTGCCCATCCCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCC CGCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPRL3_chr16_80386_143673	82196	C C	CACGCTGG others(166): Show CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGG GAAGCCCTCCTGAATACTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19064.hp2 NA19012.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0254 a0001c0001t0003g0251 a0001c0001t0003g0254	2	350	0.0057	173	c.45 others(184): Show c.4508_*4509insCGGGGGAGTATTCAGGAGGGCTTCCCGGAGATAG GGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCCG GAGATAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGG CTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3189		chr16	TogoVar
NPRL3_chr16_80386_143673	82236	C C	CCCTCCTG others(166): Show CCCTCCTGAATACTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	350	0.0029	173	c.44 others(184): Show c.4468_*4469insCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGT CAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAG AAGGGGTCAGCGCGGGGAGTATTCAGGAGGGCTTCCCGGAGGTAGGGTGG TGGGAAGAAGGGGTCAGCGCCGGGGGAGTATTCAGGAGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3149		chr16	TogoVar
NPRL3_chr16_80386_143673	82247	G G	GCTCCCCG others(166): Show GCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCT ACCTCCGGGAAGGCCTCCTGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	350	0.0029	173	c.44 others(184): Show c.4457_*4458insTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGATA GGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCT GGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGCGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3138		chr16	TogoVar

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