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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No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CLPTM1L_chr5_1312752_1350099	1329777	C C	CTGGTGGA others(167): Show CTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGA CTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGG CCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGT GGACAGGGCCTCAGGACTCTCTGCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	370	0.0027	174	c.108 others(191): Show c.1080+502_1080+503insAGCAGAGAGTCCTGAGGCCCTGTCCACC AAGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTCCTGAGGCCC TGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCC TGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329817	G G	GGCCTCAG others(167): Show GGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCCTG GTGGACAGGGCCTCAGGACTATCTGCCTGGTGGACAGAGCCTCAGGACTC TCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCT CAGGACTCTCTGCTTGGTGGACAGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03471.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	370	0.0054	174	c.108 others(191): Show c.1080+462_1080+463insTCTGTCCACCAAGCAGAGAGTCCTGAGG CCCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAG TCCTGAGGCTCTGTCCACCAGGCAGATAGTCCTGAGGCCCTGTCCACCAG GCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GGAAGGAA others(167): Show GGAAGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGAAGGAAAGAAGGAAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAGAAAAGAA AGAAAGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	268	0.0037	174	c.-46 others(193): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTTCCTTCTTTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL18A1_chr21_45400165_45518720	45500919	T T	TGTGTTGG others(167): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0239 a0001c0005t0002g0239	1	292	0.0034	174	c.268 others(193): Show c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AGGGGAAA others(167): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	344	0.0029	174	c.85- others(191): Show c.85-13033_85-13032insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AGGGGAAA others(167): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0002 a0002c0044t0002	a0002c0044t0002g0321 a0002c0044t0002g0321	1	344	0.0029	174	c.85- others(191): Show c.85-13033_85-13032insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A2_chr21_46093112_46134801	46134665	T T	TAGGGTGA others(167): Show TAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCA GGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGG TTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTT TAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0064 a0001c0006t0005g0064	1	372	0.0027	174	c.51 others(185): Show c.5174_*5175insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGG TCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC AGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAG GGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4865		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134677	C C	CAGGTTTA others(167): Show CAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGT GAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	1	372	0.0027	174	c.51 others(185): Show c.5186_*5187insAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGT TTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAG GGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4877		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134701	G G	GAGGGTCA others(167): Show GAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGG GTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGT GAGGGTGAGGGTGAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0090 a0002c0008t0001g0090	1	372	0.0027	174	c.52 others(185): Show c.5210_*5211insAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGG TCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC AGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAG GGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4901		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134665	T T	TAGGGTGA others(167): Show TAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCA GGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGG TTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTT TAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0066 a0001c0007t0005g0066	1	364	0.0028	174	c.21 others(185): Show c.2113_*2114insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGG TCAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC AGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAG GGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1818		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134677	C C	CAGGTTTA others(167): Show CAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGT GAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	364	0.0028	174	c.21 others(185): Show c.2125_*2126insAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGT TTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC AGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAG GGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1830		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134701	G G	GAGGGTCA others(167): Show GAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGG GTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGT GAGGGTGAGGGTGAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0002 a0007c0030t0002	a0007c0030t0002g0092 a0007c0030t0002g0092	1	364	0.0028	174	c.21 others(185): Show c.2149_*2150insAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGG TCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC AGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAG GGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1854		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116129676	A A	ATATATAT others(167): Show ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATAT ACATTAGTATATATATACTATATACTATGTAATATACATTAGTATATATA CTATATACTATGTAATATACATTAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG04228.hp1 NA18982.hp2 others(1): Show HG02129.hp2 HG04228.hp1 NA18982.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0272 a0001c0001t0001g0275 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276	4	350	0.0114	174	c.400 others(191): Show c.400-4374_400-4373insATGTAATATACATTAGTATATATATACT ATATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAA TATACATTAGTATATATATACTATATACTATGTAATATACATTAGTATAT ATACTATATACTATGTAATATACATTAGTATATATACTATATACTA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116129676	A A	ATATATAT others(167): Show ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATAT ACATTAGTGTATATATACTATATACTATGTAATATACATTAGTATATATA CTATATACTATGTAATATACATTAG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	350	0.0029	174	c.400 others(191): Show c.400-4374_400-4373insATGTAATATACATTAGTATATATATACT ATATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAA TATACATTAGTGTATATATACTATATACTATGTAATATACATTAGTATAT ATACTATATACTATGTAATATACATTAGTATATATACTATATACTA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(167): Show GCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCCGCCCCGCCC CCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGCCCCCCGCCCA CCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCCGCCGCCCCTG CCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 NA18522.hp1 others(2): Show HG02559.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0027 a0001c0007 a0001c0027	a0001c0007t0006 a0001c0027t0005 a0001c0007t0006 a0001c0027t0005	a0001c0007t0006g0159 a0001c0007t0006g0160 a0001c0007t0006g0161 others(2): Show a0001c0007t0006g0159 a0001c0007t0006g0160 a0001c0007t0006g0161 a0001c0007t0006g0259 a0001c0027t0005g0156	5	348	0.0144	174	c.927 others(189): Show c.927+237_927+238insTCCCTGCCCCCTCAGTCTGTGGCCCCGCCC CGCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGC CCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCC GCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588004	C C	CGTGTCAC others(167): Show CGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACA GATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACATGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	348	0.0029	174	c.928 others(189): Show c.928-671_928-670insGTGTCACCCGCGTGTCACCCACAGAAACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPSF1_chr8_144388231_144414335	144398288	C C	CCTCCCCA others(167): Show CCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGC CCAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCCC AGGGCCCAACCACCTCCCCCCCACCGGCCCACCCACCTACCTCCTTCCAG CAGGCGGATGCCCAGGGCCCAACCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	350	0.0029	174	c.189 others(189): Show c.1894+13_1894+14insTGGTTGGGCCCTGGGCATCCGCCTGCTGGA AGGAGGTAGGTGGGTGGGCCGGTGGGGGGGAGGTGGTTGGGCCCTGGGCA TCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCATC CGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGTGGGGAG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CPSF1_chr8_144388231_144414335	144398289	C C	CTCCCCAC others(167): Show CTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGCC CAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCCCA GGGCCCAACCACCTCCCCCCCACCGTCCCCACCCACCTACCTCCTTCCAG CAGGCGGATGCCCAGGGCCCAACCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	350	0.0029	174	c.189 others(189): Show c.1894+12_1894+13insTGGTTGGGCCCTGGGCATCCGCCTGCTGGA AGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGCCCTGGGC ATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCAT CCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGTGGGGA	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(167): Show GATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATTTCTATATATATATATATATTTCTATATATATATATTTCTATATA TATATATATTTCTATATATATATATATTTCTATATATATATATATTTCTA TATATATATATATTTCTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03239.hp2 NA19007.hp1 HG02698.hp1 HG03239.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0079	3	370	0.0081	174	c.56 others(185): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATTTCTATATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATATTTCTATAT ATATATATATTTCTATATATATATATATTTCTATATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(167): Show GATATATATATATTTCTATATATATATATATATATATTTCTATATATATA TATTTCTATATATATATATATATATTTCTATATATATATATTTCTATATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATATATTTCTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0094 a0001c0001t0014g0094	1	370	0.0027	174	c.56 others(185): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATTTCTATATATATATATTTCTATATATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATATTTCTATAT ATATATATTTCTATATATATATATATATTTCTATATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(167): Show ATATATATATATATATATATATATATATATATATATATATATATATTTCT ATATATATATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATTTCTATATATATATATTTCTATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	370	0.0027	174	c.56 others(185): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATTTCTATATATATATATATATATATATTTCTATATATATA TATATTTCTATATATATATATTTCTATATATATATATTTCTATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(167): Show ATATATATATATATATATATATATATATATATATATATATATATATTTCT ATATATATATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	370	0.0027	174	c.56 others(185): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATATTTCTATATATATATATATATATATTTCTATATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(167): Show ATATATATATATATATATATATATATATATATATATATATATATTTCTAT ATATATATATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	370	0.0027	174	c.56 others(185): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATTTCTATATATATATATATATATATATTTCTATATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(167): Show ATATATATATATATATATATATATATATATATATATATATATTTCTATAT ATATATATATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 NA18967.hp1 NA18967.hp2 HG01070.hp1 NA18967.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0133 a0001c0001t0001g0168 a0001c0001t0001g0010 a0001c0001t0001g0133 a0001c0001t0001g0168	3	370	0.0081	174	c.56 others(185): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATTTCTATATATATATATATATATATATATTTCTATATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(167): Show ATATATATATATATATATATATATATATATATGTATATATTTCTATATAT ATATATATATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATTTCTATATATATAT ATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	370	0.0027	174	c.56 others(185): Show c.5645_*5646insTATATATATATATATATATATATATATATATGTA TATATTTCTATATATATATATATATATATATATATTTCTATATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TTTCTATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(167): Show ATATATATATATATATATATATATATATATTTCTATATATATATATATAT ATATATTTCTATATATATATATATATATATATATTTCTATATATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0358 a0001c0001t0037g0358	1	370	0.0027	174	c.56 others(185): Show c.5645_*5646insTATATATATATATATATATATATATATATTTCTA TATATATATATATATATATATTTCTATATATATATATATATATATATATT TCTATATATATATATATATTTCTATATATATATATATTTCTATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240923854	C C	CCCCCACA others(167): Show CCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCC AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAA CCCGGTCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGTCCCCACACTGACCCAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG03540.hp1 HG01884.hp1 HG02965.hp2 HG03540.hp1	a0019 a0020 a0059 a0019 a0020 a0059	a0019c0015 a0020c0029 a0059c0030 a0019c0015 a0020c0029 a0059c0030	a0019c0015t0001 a0020c0029t0001 a0059c0030t0001 a0019c0015t0001 a0020c0029t0001 a0059c0030t0001	a0019c0015t0001g0014 a0020c0029t0001g0012 a0059c0030t0001g0025 a0019c0015t0001g0014 a0020c0029t0001g0012 a0059c0030t0001g0025	3	350	0.0086	174	c.488 others(191): Show c.488+1213_488+1214insACACTAACCCGGCCCCCCACACTAACCC AGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCGGTCCCCACACTGACCCGGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924708	G G	GCCCCCCA others(167): Show GCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACC CGGCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCCACACTAA CCCGGCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACACT AACCCAGCCCCCACACTGACCCGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02895.hp2 others(2): Show HG02622.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0143 a0001c0001t0003g0144 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145	5	350	0.0143	174	c.489 others(191): Show c.489-1011_489-1010insCACACTAACCCAGTCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACC CAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCCACACTA ACCCAGCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924747	C C	CCACACTG others(167): Show CCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGT CCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCA GTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCC AGCCCCCACACTAATCCGGCCCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0002 a0001c0067t0002	a0001c0067t0002g0287 a0001c0067t0002g0287	1	350	0.0029	174	c.489 others(189): Show c.489-977_489-976insCACACTGACCCGGCCCCCCACACTAACCCA GTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACC CAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAAC CCAGTCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924793	G G	GCCCCCAC others(167): Show GCCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCACACTAACCC GGCCCCTCACACTAACCCGGCCCCTCACACTAACCCAGCCCCCACACTGA CCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCTCACACTGACCCGGC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0224 a0006c0007t0001g0224	1	350	0.0029	174	c.489 others(189): Show c.489-919_489-918insCCCAGCCCCCACACTAATCCGGCCCCCACA CTAACCCGGCCCCTCACACTAACCCGGCCCCTCACACTAACCCAGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCC CACACTAACCCGGCCCCTCACACTGACCCGGCCCCCCACACTAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19701320	A A	ATTTTTGT others(167): Show ATTTTTGTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCCCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0047 a0001c0002t0023 a0001c0002t0047	a0001c0002t0023g0096 a0001c0002t0047g0197 a0001c0002t0023g0096 a0001c0002t0047g0197	2	238	0.0084	174	c.-39 others(195): Show c.-392+55865_-392+55866insATTAGCCGGGCGTAGTGGGGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAATACAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CTSS_chr1_150725188_150770778	150743888	T T	TATTATAT others(167): Show TATTATATGTATATTATGTATACATAATATATTATATATTATATGTATAT TATGTATACATAATATATTATATATTATATGTATATTATGTATACATAAT ATATTATATATTATATGTATATTATGTATACATAATATATTATATATTAT ATGTATATTATGTATACATAATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	344	0.0029	174	c.896 others(191): Show c.896+3888_896+3889insTATATTATGTATACATAATATACATATA ATATATAATATATTATGTATACATAATATACATATAATATATAATATATT ATGTATACATAATATACATATAATATATAATATATTATGTATACATAATA TACATATAATATATAATATATTATGTATACATAATATACATATAAT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(167): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	396	0.0025	174	c.513 others(189): Show c.513-991_513-990insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232190	C C	CCACCACT others(167): Show CCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	396	0.0025	174	c.513 others(189): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(167): Show GTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	396	0.0025	174	c.513 others(189): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGC TGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(167): Show TATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA CTGTCACCACTACCTGCCCACCACC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	396	0.0025	174	c.513 others(189): Show c.513-895_513-894insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(167): Show TATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA CTGTCACCACTACCTGCCCACCACC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0077 a0002c0002t0001g0078	2	396	0.0051	174	c.513 others(189): Show c.513-895_513-894insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(167): Show TATTATATAATATATATAATAATATATTATATATAATATATAATATATTA TTATATATATTATAAATTATATAATATATATAATATATATATTATATATA ATATATTATATATTATATAATATATATATATATAATATATAATATATTAT ATATAATATATTATATATTATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	240	0.0042	174	c.36 others(185): Show c.3650_*3651insTTATATAATATATAATATATTATATATAATATAT TATATATTATATATATATATATTATATAATATATAATATATTATATATAA TATATATATTATATATATTATATAATTTATAATATATATAATAATATATT ATATATTATATATAATATATTATTATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
DACT2_chr6_168301904_168324777	168309407	A A	AGGGCCGT others(167): Show AGGGCCGTTTGCGTGTAGACACAGGGTGCGGGGCCGTTTGCGTGTAGACA CAGGGTGCGGGGCCGTTTGCGTGTAGACACAGGGTGCGGGGCCGTTTGCG TGTAGACACAGGGTGCGGGGCCGTTTGCGTGTAGACACAGGGTGCGGGGC CGTTTGCGTGTAGACACAGGGTGCG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0181 a0001c0001t0002g0090 a0001c0001t0002g0181	2	476	0.0042	174	c.659 others(189): Show c.659-310_659-309insCGCACCCTGTGTCTACACGCAAACGGCCCC GCACCCTGTGTCTACACGCAAACGGCCCCGCACCCTGTGTCTACACGCAA ACGGCCCCGCACCCTGTGTCTACACGCAAACGGCCCCGCACCCTGTGTCT ACACGCAAACGGCCCCGCACCCTGTGTCTACACGCAAACGGCCC	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	3/3			chr6	TogoVar
DACT2_chr6_168301904_168324777	168309450	G G	GTAGACAC others(167): Show GTAGACACAGGGTGCGGGGCCGTTTGCGTGTAGACACAGGGTGCGGGGCC GTTTGCGTATAGACACAGGGTGCGGGGCCGTTTGCGTGTAGACACAGGGT GCGGGGCCGTTTGCGTATAGACACAGGGTGCGGGGCCGTTTGCGTGTAGA CACAGGGTGCGGGGCCGTTTGCGTA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03471.hp2 NA18981.hp1 others(2): Show HG02056.hp1 HG03471.hp2 NA18981.hp1 NA19075.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0005 a0002c0003t0003 a0002c0002t0005 a0002c0003t0003	a0002c0002t0005g0013 a0002c0003t0003g0109 a0002c0002t0005g0013 a0002c0003t0003g0109	5	476	0.0105	174	c.659 others(189): Show c.659-353_659-352insTACGCAAACGGCCCCGCACCCTGTGTCTAC ACGCAAACGGCCCCGCACCCTGTGTCTATACGCAAACGGCCCCGCACCCT GTGTCTACACGCAAACGGCCCCGCACCCTGTGTCTATACGCAAACGGCCC CGCACCCTGTGTCTACACGCAAACGGCCCCGCACCCTGTGTCTA	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	3/3			chr6	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(167): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATACGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA19054.hp1 NA19087.hp1 NA18998.hp1 NA19054.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0002 a0001c0002t0018g0106 a0001c0002t0018g0002 a0001c0002t0018g0106	3	380	0.0079	174	c.-11 others(185): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATACGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(167): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTATATATATATAT ATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0021 a0001c0002t0007g0021	1	380	0.0026	174	c.-11 others(185): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTATATATATATATATATATATATATATTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCBLD2_chr3_98790941_98906695	98837212	C C	CCCTCCCG others(167): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGCCTCCTCACTTCCCAGT AGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGCAGGGGGGCTGACCCCCCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG04184.hp1 others(4): Show HG00280.hp2 HG00597.hp2 HG04184.hp1 HG04228.hp2 NA19074.hp1 NA19084.hp1 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0162 a0003c0006t0007g0163 a0003c0006t0007g0164 others(4): Show a0003c0006t0007g0162 a0003c0006t0007g0163 a0003c0006t0007g0164 a0003c0006t0007g0166 a0003c0006t0007g0167 a0003c0006t0007g0168 a0003c0006t0007g0169	7	330	0.0212	174	c.572 others(193): Show c.572-11847_572-11846insTGGGGGGGGTCAGCCCCCCTGCCCGG CCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTA CTGGGAAGTGAGGAGGCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCDC2C_chr2_3698575_3853008	3725463	T T	TGCCAGGT others(167): Show TGCCAGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGG TGGATCCCGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAG GGAGACCGCCAGAGTGACGAGGATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0064 a0003c0008t0001g0064	1	324	0.0031	174	c.340 others(191): Show c.340-1537_340-1536insAGGTGGATCCTGGAGGGAGACCGCCAGA GTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGTGAG GAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCAGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(167): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA CTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCACT ACTGTAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	230	0.0044	174	c.724 others(193): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTA TAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLRE1C_chr10_14899613_14959096	14913058	T T	TGTTAGCC others(167): Show TGTTAGCCAGGATGGTCTCGATCTCTCTGACCACATGATCCACCTGCCTT GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCAA TAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTGTT TTTAGTAGAGACGGGGTTTCACCGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp1 HG03516.hp1 others(1): Show HG02896.hp2 HG03130.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0030 a0001c0001t0019g0251 a0001c0001t0019g0252 others(1): Show a0001c0001t0019g0030 a0001c0001t0019g0251 a0001c0001t0019g0252 a0001c0001t0019g0272	4	392	0.0102	174	c.115 others(193): Show c.1157-3729_1157-3728insGCGGTGAAACCCCGTCTCTACTAAAA ACACAAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTAT TGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCA AGGCAGGTGGATCATGTGGTCAGAGAGATCGAGACCATCCTGGCTAAC	DCLRE1C	ENSG00000152457.19	transcript	ENST00000378278.7	protein_coding	13/13			chr10	TogoVar
DDRGK1_chr20_3185350_3209682	3201025	A A	ATGTGAAC others(167): Show ATGTGAACCCAGGAGCCGGAACTTGCAGTGAGCTGAGATCACGCCACTGC ACTCCAACCTGGGCGACAGAGTGAGACACTGTCTCAGGGGAAAAAAAAAT ACAAAAATAATTAGCCGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGGGAATGG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	438	0.0023	174	c.296 others(189): Show c.296-745_296-572dupCCATTCCCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCACCCGCCACCATGCCCGGCTAATTATTTTTGTATTTT TTTTTCCCCTGAGACAGTGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGT GGCGTGATCTCAGCTCACTGCAAGTTCCGGCTCCTGGGTTCACA	DDRGK1	ENSG00000198171.13	transcript	ENST00000354488.8	protein_coding	2/8			chr20	TogoVar
DGAT1_chr8_144309584_144331852	144313660	G G	GCGCCTCC others(167): Show GCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCGCCTCC CCGCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCT CCCCGCCCCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01515.hp2 HG01975.hp2 others(2): Show HG00738.hp2 HG01515.hp2 HG01975.hp2 HG02135.hp2 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0009 a0001c0001t0001g0001 a0002c0002t0001g0009	5	370	0.0135	174	c.28 others(185): Show c.2893_*2894insGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGG CGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGGGGCGGGGAGGCGGGGA GGCGCGGGGAGGCGGGGCGGGGAGGCGGGGAGGCGGTGCGGGGAGGCGGG GAGGCGGTGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		923		chr8	TogoVar
DGKB_chr7_14140049_14907751	14212004	A A	ATTTACTC others(167): Show ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATATTTACTCTCATGCTTTGTGATATTTACTCTCATGTTTTGT GATATTTACTCTCATGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	148	0.0068	174	c.212 others(195): Show c.2123-33854_2123-33853insATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAATATCACAAAGCATGAGAGTAAATATCACAAA ACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAG AGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKI_chr7_137376037_137851974	137638574	A A	ATATGTAT others(167): Show ATATGTATATATATGTGTGTATATATATACACACATATATATGTATATAT ATGTGTGTATATATATACACACATATATATACATATACACATATATACAT ATATGTATATATACACATATATACATATATGTATATATGTGTATATATAC ACATATATACATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0066 a0001c0007t0005g0066	1	94	0.0106	174	c.804 others(191): Show c.804+6897_804+6898insCATATATACATATATGTATATATGTGTA TATATACACATATATACATATATGTATATATGTGTATATATACATATATG TATATATGTGTATATGTATATATATGTGTGTATATATATACACACATATA TATACATATATATGTGTGTATATATATACACACATATATATACATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar

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