Joint Open Genome and Omics Platform (JoGo)

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Regionname

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

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

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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
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(237): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAGGGGG AAGGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAAGGGGAGGGGGAAG GGGGGAGGGGGAAGGGGAGGGGGAAGGGGGAGAGGGGAGGGGGAGGGGGG ACGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGCG GGAACGGGGGAGGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG02258.hp1 others(11): Show HG01167.hp2 HG01884.hp2 HG02258.hp1 HG02723.hp1 HG02895.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp1 NA19043.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0017 a0002c0002 a0008c0017	a0002c0002t0003 a0002c0002t0027 a0008c0017t0009 a0002c0002t0003 a0002c0002t0027 a0008c0017t0009	a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0044 others(10): Show a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0056 a0002c0002t0027g0045 a0008c0017t0009g0039	14	251	0.0558	244	c.35 others(253): Show c.353_*354insGCTTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCTC CCCCGTTCCCGCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCCCGTCCCCCCTCCCCCTCCCCTCTCCCCCTTCCCCCTCCCCTTCC CCCTCCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTCCCCCCTTCCCCC TCCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCCTTCCCCCTCCCCCTTC CCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(237): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAGGGGG AAGGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAAGGGGAGGGGGAAG GGGGGAGGGGGAAGGGGAGGGGGAAGGGGGAGAGGGGAGGGGGAGGGGGG ACGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGCG GGAACGGGGGAGGGGAGAGGGGGAGGGGGAGGGGGGGGGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG01884.hp1 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	2	251	0.0080	244	c.35 others(253): Show c.353_*354insGCTTCCCCCCCCCCCTCCCCCTCCCCCTCTCCCCTC CCCCGTTCCCGCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCCCGTCCCCCCTCCCCCTCCCCTCTCCCCCTTCCCCCTCCCCTTCC CCCTCCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTCCCCCCTTCCCCC TCCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCCTTCCCCCTCCCCCTTC CCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(237): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTC TCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	244	c.54 others(255): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPINT1_chr15_40839048_40863207	40851245	C C	CCAGGTTC others(237): Show CCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC AGACATGTGCCACCATGCCCAGCTAATTTTTTGTATTTTAGTAGAGAGGG GGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTTGTGTCTG CCCGCCTTGGCCGCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGC CCAGCTGTGTTCTGCCATTTTCAACAACACCCTACATTCTCCCAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02257.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0073 a0001c0003t0004g0093 a0001c0001t0001g0073 a0001c0003t0004g0093	2	358	0.0056	244	c.476 others(261): Show c.476-1876_476-1633dupGGTTCAAGCGATTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGATTACAGACATGTGCCACCATGCCCAGCTAATTTTT TGTATTTTAGTAGAGAGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAA TCTCCTGATCTTGTGTCTGCCCGCCTTGGCCGCCCAAAGTGCTGGGATTA TAGGCGTGAGCCACCGCGCCCAGCTGTGTTCTGCCATTTTCAACAACACC CTACATTCTCCCAACA	SPINT1	ENSG00000166145.15	transcript	ENST00000562057.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(237): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGTGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp2 HG03130.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	2	260	0.0077	244	c.138 others(263): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCAC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(237): Show AGGGGAGGGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	260	0.0039	244	c.138 others(263): Show c.1384-5708_1384-5707insCTCCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTTCCC CTCCCCTCCCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(237): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	202	0.0050	244	c.262 others(263): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(237): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02895.hp2 others(1): Show HG02615.hp2 HG02723.hp2 HG02895.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0008 a0001c0001t0001 a0002c0002t0008	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0002c0002t0008g0180	4	202	0.0198	244	c.262 others(263): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTC CCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(237): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18944.hp1 NA18953.hp2 others(1): Show HG04115.hp1 NA18944.hp1 NA18953.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0026 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027	4	202	0.0198	244	c.262 others(263): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(237): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	202	0.0050	244	c.262 others(263): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(237): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCATATA TACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATA TGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	188	0.0053	244	c.152 others(263): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGCGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCAT ATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCAT ATATACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGT ATATGCGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(237): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp1 NA19030.hp2 HG02965.hp1 HG02976.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0184 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0184	3	188	0.0160	244	c.152 others(263): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGT ATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(237): Show TATATACATATATACACATATGTGTACATATGTGTATATATACATATATA TACACATATATATGTATATATACACATATGTGAATATGTATGTGTTATAT ATACACATATGTGTATATGTATATATGTATATATACACATATGTGTATAT ATACATATATACACATATGTGTATATATACATATATACATATACACATGT GTATATATACATATATACATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18952.hp2 NA18994.hp1 others(1): Show HG01261.hp2 NA18952.hp2 NA18994.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0013 a0001c0002t0004 a0001c0002t0010 a0001c0002t0013	a0001c0002t0004g0089 a0001c0002t0004g0327 a0001c0002t0010g0294 others(1): Show a0001c0002t0004g0089 a0001c0002t0004g0327 a0001c0002t0010g0294 a0001c0002t0013g0035	4	376	0.0106	244	c.158 others(263): Show c.1582-2860_1582-2859insCATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATATGTATATATACACATATGTG AATATGTATGTGTTATATATACACATATGTGTATATGTATATATGTATAT ATACACATATGTGTATATATACATATATACACATATGTGTATATATACAT ATATACATATACACATGTGTATATATACATATATACATATACACATATGT GTATATATAACACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TARS3_chr15_101648596_101729473	101692328	C C	CGGCTCCA others(237): Show CGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCCATCTCCTCACT TCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCC ATCTCCTCACTTCTCTCCTCCATGGCTCCAAGCTCTCTGTGGGTTCTGGT ATTACTACTCCATCTCCTCACTTCTCTCCTCCACGGCTCCAAGCTCTCTG TGGGTTCTGGTATTACTACTCCATCTCCTCACTTCTCTCCTCCAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp2 HG03927.hp2 HG01884.hp2 HG03579.hp2 HG03927.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0002 a0005c0010t0002 a0001c0001t0002 a0005c0010t0002	a0001c0001t0002g0112 a0001c0001t0002g0114 a0005c0010t0002g0054 a0001c0001t0002g0112 a0001c0001t0002g0114 a0005c0010t0002g0054	3	278	0.0108	244	c.132 others(263): Show c.1321-6267_1321-6266insATGGAGGAGAGAAGTGAGGAGATGGA GTAGTAATACCAGAACCCACAGAGAGCTTGGAGCCGTGGAGGAGAGAAGT GAGGAGATGGAGTAGTAATACCAGAACCCACAGAGAGCTTGGAGCCATGG AGGAGAGAAGTGAGGAGATGGAGTAGTAATACCAGAACCCACAGAGAGCT TGGAGCCGTGGAGGAGAGAAGTGAGGAGATGGAGTAGTAATACCAGAACC CACAGAGAGCTTGGAGCC	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	10/18			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992779	C C	CCACTCCC others(237): Show CCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCC CCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCAC TCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCC ACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACT CCACTCCCCCCCACTCCCCCCCCACTCCCCCCCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0010 a0008c0012t0010	a0008c0012t0010g0163 a0008c0012t0010g0163	1	280	0.0036	244	c.53 others(255): Show c.5380_*5381insAGTGGGGGGAGTGGGGGGGAGTGGGGGGGGAGTG GGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAG TGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGA GTGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTG GGGGGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGGAGT GGGGGGAGTG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2205		chr15	TogoVar
TCF3_chr19_1604292_1657615	1628937	C C	CAGGGGGT others(237): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGAGG CGGGAAGGGGACAGTAGAGCTCACAGGGGATGAGGTGGGAAGGGGACAGC AGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0148 a0003c0006t0001g0148	1	352	0.0028	244	c.299 others(261): Show c.299-1512_299-1511insCTGTGAGCTCTACTGTCCCCTTCCCGCC TCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCATCCCCTGTGAGCT CTACTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCC GCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGA GTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623893	T T	TATGTATA others(237): Show TATGTATACATATATACACACACATATGTATACATATATACACACACACA TATGTATACATATATACACACACACATATGTATACATATTTACACACATA TGTATACATATATACACACACACATATGTATACATATATACACACACATA TATGTATACATATATACACACACATATATGTATACATATATACACACACA TATGTATACATATATACACACACATATGTATACATATATACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0204 a0003c0003t0004g0204	1	466	0.0022	244	c.122 others(261): Show c.1222+812_1222+813insGTATACATATATACACACACATATGTAT ACATATATACACACACACATATGTATACATATATACACACACACATATGT ATACATATTTACACACATATGTATACATATATACACACACACATATGTAT ACATATATACACACACATATATGTATACATATATACACACACATATATGT ATACATATATACACACACATATGTATACATATATACACACACATATGTAT ACATATATACACACAT	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1272785	C C	CATCAGAC others(237): Show CATCAGACCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	392	0.0026	244	c.228 others(261): Show c.2287-506_2287-505insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTTGTGGGGGTCTGAT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272821	A A	ACATCAGA others(237): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	392	0.0026	244	c.228 others(261): Show c.2287-542_2287-541insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTA GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121748015	T T	TGGGAGGC others(237): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0047 a0001c0001t0056g0047	1	314	0.0032	244	c.189 others(259): Show c.189-284_189-283insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748043	A A	ACTGGGGT others(237): Show ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0137 a0001c0001t0059g0137	1	314	0.0032	244	c.189 others(259): Show c.189-180_189-179insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748043	A A	ACTGGGGT others(237): Show ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0206 a0001c0001t0011g0206	1	314	0.0032	244	c.189 others(259): Show c.189-180_189-179insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM271_chr4_568880_581295	576951	G G	GGGGGGGG others(237): Show GGGGGGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCTG GGGGGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCTGG GGGGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCTGGG GGGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCTGGGG GGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	352	0.0028	244	c.-89 others(253): Show c.-890_-889insAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCT TCCCACCCCCCCCAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCTT CCCACCCCCCCCAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCTTC CCACCCCCCCCAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCTTCC CACCCCCCCCAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCTTCCC ACCCCCCC	TMEM271	ENSG00000273238.3	transcript	ENST00000610212.3	protein_coding		657		chr4	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(237): Show GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 NA19004.hp2 HG00639.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0119 a0002c0002t0001g0003 a0002c0002t0001g0119	2	466	0.0043	244	c.49 others(255): Show c.4905_*4906insACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930763	A A	AGGGAGGC others(237): Show AGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCC TAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	466	0.0022	244	c.48 others(255): Show c.4827_*4828insCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCC AGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4606		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507565	A A	ATATATAC others(237): Show ATATATACATGTATATATACGTGTATACACGTATATATACATGTATATAT GTATATATACGTGTATACACGTATATATACATGTATATATGTATATATAC GTATCTACATGTATACATGTATATATGTATACATGTGTATACATGTATGT ATGTGTATATATGTATACATGTATGTGTATATATGTATACATGTATATAT GTATACATACACGCGCGTGTATATATGTATACATACACGCGCGTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	388	0.0026	244	c.-23 others(261): Show c.-23+2482_-23+2483insCACGCGCGTGTATGTATACATATATACA CGCGCGTGTATGTATACATATATACATGTATACATATATACACATACATG TATACATATATACACATACATACATGTATACACATGTATACATATATACA TGTATACATGTAGATACGTATATATACATATATACATGTATATATACGTG TATACACGTATATATACATATATACATGTATATATACGTGTATACACGTA TATATACATGTATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATACAT others(237): Show GTATACATGTATATATACGTGTATACACGTATATATACATGTATATATGT ATATATACGTGTATACACGTATATATACATGTATATATGTATATATACGT ATCTACATGTATACATGTATATATGTATACATGTGTATACATGTATGTAT GTGTATATATGTATACATGTATGTGTATATATGTATACATGTATATATGT ATACATACACGCGCGTGTATATATGTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00642.hp1 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0256 a0001c0001t0004g0257	2	388	0.0052	244	c.-23 others(261): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACATGTATACATATATACACATACA TGTATACATATATACACATACATACATGTATACACATGTATACATATATA CATGTATACATGTAGATACGTATATATACATATATACATGTATATATACG TGTATACACGTATATATACATATATACATGTATATATACGTGTATACACG TATATATACATGTATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(237): Show GTATATATGTATATATACGTGTATACACGTATATATACATGTATATATGT ATATATACGTGTATACACGTATATATACATGTATATATGTATATATACGT ATCTACATGTATACATGTATATATGTATACATGTGTATACATGTATGTAT GTGTATATATGTATACATGTATGTGTATATATGTATACATGTATATATGT ATACATACACGCGCGTGTATATATGTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03834.hp1 HG04204.hp2 others(5): Show HG03704.hp1 HG03834.hp1 HG04204.hp2 NA18949.hp2 NA18973.hp2 NA18991.hp2 NA19058.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0004 a0001c0001t0004 a0001c0005t0004	a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 others(5): Show a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0290 a0001c0005t0004g0291	8	388	0.0206	244	c.-23 others(261): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACATGTATACATATATACACATACA TGTATACATATATACACATACATACATGTATACACATGTATACATATATA CATGTATACATGTAGATACGTATATATACATATATACATGTATATATACG TGTATACACGTATATATACATATATACATGTATATATACGTGTATACACG TATATATACATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(237): Show GTATATATGTATATATACGTGTATACACGTATGTATACATGTATATATGT ATATATACGTGTATACACGTATATATACATGTATATATGTATATATACGT ATCTACATGTATACATGTATATATGTATACATGTGTATACATGTATGTAT GTGTATATATGTATACATGTATGTGTATATATGTATACATGTATATATGT ATACATACACGCGCGTGTATATATGTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01069.hp2 others(3): Show HG00099.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0060 a0001c0001t0004 a0001c0001t0060	a0001c0001t0004g0032 a0001c0001t0004g0245 a0001c0001t0004g0246 others(2): Show a0001c0001t0004g0032 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0060g0244	6	388	0.0155	244	c.-23 others(261): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACATGTATACATATATACACATACA TGTATACATATATACACATACATACATGTATACACATGTATACATATATA CATGTATACATGTAGATACGTATATATACATATATACATGTATATATACG TGTATACACGTATATATACATATATACATGTATACATACGTGTATACACG TATATATACATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151711	G G	GGGGTTGA others(237): Show GGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	228	0.0044	244	c.43 others(255): Show c.4339_*4340insGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGA GTGAGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3969		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151827	A A	AGTGGGGG others(237): Show AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGG GGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGG GTTGAGAAGGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGAGAAGTGAGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0125 a0001c0006t0002g0125	1	228	0.0044	244	c.44 others(255): Show c.4455_*4456insGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGGTGAGAAG GGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGG GGAGTGAGAGTGGGGGTTGAGAAGGGGGAGTGAGAGAGAGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGAGA AGTGAGAGTG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4085		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151832	T T	TTGAGAAG others(237): Show TTGAGAAGGGGAGGTGAGAGTGGGGGTGAGAAGGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGAGGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	228	0.0044	244	c.44 others(255): Show c.4460_*4461insTGAGAAGGGGAGGTGAGAGTGGGGGTGAGAAGGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGGTGAGAAGGGAA GTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTG AGAGAGAGGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4090		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152500	G G	GGGGGGTG others(237): Show GGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGTAGGGGTGAGTGAGTG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGTGTGAGTGG GGGTGTGAAGGGGAGTGAGGAGTGGGGGTGAGAGGGGAGTGAGAGAGGGG GGTGAGAAGGGGAGTGAGAGTGGGGGGTGGTGATGGGGAGTGAGAGTGGG GGTGAGAAGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	228	0.0044	244	c.51 others(255): Show c.5128_*5129insGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGT AGGGGTGAGTGAGTGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAG AAGGGGTGTGAGTGGGGGTGTGAAGGGGAGTGAGGAGTGGGGGTGAGAGG GGAGTGAGAGAGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGGTGATG GGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGTGGGGGTTGAGAAGGG GAGTGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4758		chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097570	T T	TGTGTATA others(237): Show TGTGTATATACATATATACATATACACACATGTGTGTATATATACATATA CACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCG TGCGTATATACATATACACGCGTGCGTATATATACATATACACGCGTGCG TATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATACATATACACGCGTGCGTATATATACATATACACGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0002g0183 a0001c0001t0002g0190	2	334	0.0060	244	c.-47 others(255): Show c.-4790_-4789insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATAT ACGCACGCGTGTATATGTATATATACACACATGTGTGTATATGTATATAT GTATATACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4764		chr20	TogoVar
TRPM4_chr19_49152792_49216836	49157080	C C	CTCTCCCT others(237): Show CTCTCCCTGGGTCTCTGTACCCCTCTCCGTGGGTCTCTGTCCCCTCTCCC TGGGTCTCTGTCCCCCCATCCCTGGGTCTCTGTCCCCCCCTCTCTGGGTC TCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCTCTCTGGGTCTCTG TTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCG TCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0046 a0002c0004t0007g0046	1	312	0.0032	244	c.-78 others(253): Show c.-787_-786insTCTCCCTGGGTCTCTGTACCCCTCTCCGTGGGTCTC TGTCCCCTCTCCCTGGGTCTCTGTCCCCCCATCCCTGGGTCTCTGTCCCC CCCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCT CTCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGG GTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCT GTCCTCCT	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding		711		chr19	TogoVar
TSNARE1_chr8_142207080_142408182	142255884	C C	CCACCACC others(237): Show CCACCACCACGTCACCATCACCACCACCATCACCATCACCACCACCACCA CTGTCACCACCACCACCACCACCACCATCACATCACCACCATCATCACCA TCACCACCACCATCACCATCACCACCACCACCACCGTCACCATCACCACC ACCATCACCATCACCACCACTGTCACCATCACCACCACCACCACTGTCAC CACCACCACCACCACCATCATCACCATCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp1 HG02723.hp1 others(5): Show HG01123.hp1 HG01884.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG03225.hp1 HG03486.hp1 NA19240.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0009 a0015	a0001c0001 a0002c0002 a0005c0005 others(3): Show a0001c0001 a0002c0002 a0005c0005 a0006c0006 a0009c0017 a0015c0012	a0001c0001t0002 a0002c0002t0001 a0005c0005t0002 others(3): Show a0001c0001t0002 a0002c0002t0001 a0005c0005t0002 a0006c0006t0001 a0009c0017t0001 a0015c0012t0001	a0001c0001t0002g0023 a0002c0002t0001g0183 a0002c0002t0001g0184 others(5): Show a0001c0001t0002g0023 a0002c0002t0001g0183 a0002c0002t0001g0184 a0005c0005t0002g0224 a0006c0006t0001g0169 a0006c0006t0001g0170 a0009c0017t0001g0060 a0015c0012t0001g0185	8	238	0.0336	244	c.144 others(265): Show c.1446+18896_1446+18897insATGGTGATGGTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGAC AGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGACGGTGGTGGTGGTGG TGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGTGATGGTGG TGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGATGGTGGTG GTGATGGTGACGTGGTGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142255884	C C	CCACCACC others(237): Show CCACCACCACGTCACCATCACCACCACCATCACCATCACCACCACCACCA CTGTCACCACCACCACCACCACCACCATCACATCACCACCATCATCACCA TCACCACCACCATCACCATCACCACCACCATCACCGTCACCATCACCACC ACCATCACCATCACCACCACTGTCACCATCACCACCACCACCACTGTCAC CACCACCACCACCACCATCATCACCATCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01070.hp2 others(32): Show HG00140.hp2 HG00408.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01361.hp1 HG01496.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02615.hp2 HG02896.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG04115.hp2 NA18612.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp2 NA19004.hp2 NA19064.hp2 NA19085.hp1 NA19091.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0012	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0012c0015	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(8): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0005c0005t0001 a0005c0005t0002 a0006c0006t0001 a0006c0006t0002 a0012c0015t0001	a0001c0001t0001g0031 a0001c0001t0001g0070 a0002c0002t0001g0153 others(32): Show a0001c0001t0001g0031 a0001c0001t0001g0070 a0002c0002t0001g0153 a0002c0002t0003g0204 a0003c0003t0001g0108 a0003c0003t0001g0113 a0003c0003t0001g0115 a0003c0003t0001g0117 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0127 a0003c0003t0001g0133 a0003c0003t0001g0137 a0003c0003t0002g0011 a0003c0003t0002g0105 a0003c0003t0002g0112 a0003c0003t0002g0118 a0003c0003t0002g0138 a0003c0003t0003g0096 a0003c0003t0003g0101 a0003c0003t0003g0110 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0005c0005t0001g0218 a0005c0005t0002g0148 a0005c0005t0002g0149 a0006c0006t0001g0233 a0006c0006t0002g0028 a0006c0006t0002g0069 a0006c0006t0002g0221 a0006c0006t0002g0229 a0012c0015t0001g0027	35	238	0.1471	244	c.144 others(265): Show c.1446+18896_1446+18897insATGGTGATGGTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGAC AGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGACGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGTGATGGTGG TGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGATGGTGGTG GTGATGGTGACGTGGTGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142255884	C C	CCACCACC others(237): Show CCACCACCACGTCACCATCACCACCACCATCACCATCACCACCACCACCA CTGTCACCACCACCACCACCACCACCATCACATCACCACCATCATCACCA TCACCACCACCATCACCATCACCACCACCATCACCGTCACCATCACCACC ACCATCACCATCACCACCACTGTCACCATCACCACCACCACCACTGTCAC CACCACCACTACCACCATCATCACCATCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	238	0.0042	244	c.144 others(265): Show c.1446+18896_1446+18897insATGGTGATGGTGGTGGTGATGGTG ATGATGGTGGTAGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGAC AGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGACGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGTGATGGTGG TGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGATGGTGGTG GTGATGGTGACGTGGTGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TUBB2B_chr6_3219277_3232653	3222198	C C	CCACCACC others(237): Show CCACCACCACCACCACCACCACCACCACCACCACACTACCACATCACCAC CACCACCACCACCACCACACTACCACATCACCACCACCACCACCATTACC ACCATCACCACCACCACCACCACCACCACCACACTACCACATCACCACCA CCACCACCATTACCACCACCACCACCACCACTATCACCATCATCACCATC ACCACCATCACCACTACCACCACCACCACCACCACACTACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	360	0.0028	244	c.25 others(255): Show c.2552_*2553insATGTGGTAGTGTGGTGGTGGTGGTGGTGGTAGTG GTGATGGTGGTGATGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGGT AATGGTGGTGGTGGTGGTGATGTGGTAGTGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTAATGGTGGTGGTGGTGGTGATGTGGTAGTGTGGTGG TGGTGGTGGTGGTGGTGATGTGGTAGTGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2078		chr6	TogoVar
TUNAR_chr14_95871832_95930571	95927755	G G	GTCCCTCT others(237): Show GTCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCC ATCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCC ATCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCC ATCCCTCTCTCCCTCTCCCTCCGTCCCTCTCTCCCTCTCCCTCTCCCTCT GTCCCTCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01070.hp2 others(7): Show HG00438.hp1 HG00735.hp1 HG01070.hp2 HG01928.hp2 HG01981.hp2 NA18955.hp1 NA18994.hp1 NA19007.hp2 NA19058.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0002 a0001c0001t0014 a0002c0002t0002	a0001c0001t0014g0238 a0002c0002t0002g0002 a0002c0002t0002g0064 others(2): Show a0001c0001t0014g0238 a0002c0002t0002g0002 a0002c0002t0002g0064 a0002c0002t0002g0148 a0002c0002t0002g0180	10	338	0.0296	244	c.47 others(255): Show c.4789_*4790insTCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTC TCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTC TCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTC TCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCCGTCCCTCTCTCCC TCTCCCTCTCCCTCTGTCCCTCTCTCCCTCTCCCTCCATCCCTCTCTCCC TCTCCCTCCA	TUNAR	ENSG00000250366.4	transcript	ENST00000503525.3	protein_coding		2185		chr14	TogoVar
TWIST2_chr2_238843085_238915534	238870814	A A	ACACACAC others(237): Show ACACACACCACACCCCACACACACCCACACCCACACACCCCACACACCAC CCACACACACCCACACCACCACACACACCACACACCCCACACACACCACA CACACCACACACACCACACCCCACACACACCACACCCCACACACCCACAC CCCACACACACCACACACACCACACCCCACACACACCACACACACCACAG CCCACACACACCACACACACCACACCCCACACACACCACACACAC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	338	0.0030	244	c.35 others(263): Show c.35+22086_*35+22087insACCACACCCCACACACACCCACACCC ACACACCCCACACACCACCCACACACACCCACACCACCACACACACCACA CACCCCACACACACCACACACACCACACACACCACACCCCACACACACCA CACCCCACACACCCACACCCCACACACACCACACACACCACACCCCACAC ACACCACACACACCACAGCCCACACACACCACACACACCACACCCCACAC ACACCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(237): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19076.hp2 NA18951.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0248 a0001c0001t0001g0149 a0001c0001t0001g0248	2	338	0.0059	244	c.246 others(263): Show c.246-36120_246-36119insTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0218 a0001c0001t0006g0218	1	320	0.0031	244	c.-38 others(255): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	320	0.0031	244	c.-38 others(255): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACACATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	320	0.0031	244	c.-38 others(255): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	320	0.0031	244	c.-38 others(255): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	320	0.0031	244	c.-38 others(255): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0011 a0001c0001t0006g0011 a0001c0001t0001g0011 a0001c0001t0006g0011	2	320	0.0063	244	c.-38 others(255): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
ULK1_chr12_131889622_131928150	131917309	G G	GGGCTCGG others(237): Show GGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	344	0.0029	244	c.218 others(261): Show c.2183-102_2183-101insGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679638	A A	ATTTATAG others(237): Show ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATATATATTTATATATTTAATTTATAGATAAATATAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0178 a0001c0001t0028g0178	1	250	0.0040	244	c.82+ others(259): Show c.82+6266_82+6267insTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTAT AGATAAATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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