Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(353): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTT GTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCT ACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAG ACGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0348 a0002c0006t0015g0348	1	392	0.0026	360	c.703 others(375): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTTGTT GCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCTACC TCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT ACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACG GGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144620226	T T	TGTGTGTG others(353): Show TGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTG TCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAG CGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCACGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTG TCCAAGGGAGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	246	0.0041	360	c.-81 others(379): Show c.-81-14532_-81-14531insGCTCCCTTGGACACACAGGCTAACAG ACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCAC ACGTGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCTCCC TTGGACACACAGGCTAACAGACACGGGCACACACGCTCCCTTGGACACAC AGGCTAACAGACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAG ACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCAC ACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCTCCC TTGGACACACAGGCTAACAGACACGGGCACACAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ASPRV1_chr2_69955089_69966631	69956428	A A	AAAGAAGG others(353): Show AAAGAAGGAGAAGGAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	464	0.0022	360	c.42 others(371): Show c.4228_*4229insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCCTCTTCTCCTTCTCCTTCTT	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3660		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758152	T T	TCACCTGC others(353): Show TCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCTATCAC CTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	300	0.0033	360	c.655 others(379): Show c.655-22012_655-22011insGTCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGT TAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGA ATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAG CAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758516	T T	TCACCTGC others(353): Show TCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0140 a0004c0004t0001g0140	1	300	0.0033	360	c.655 others(379): Show c.655-22376_655-22375insGTCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79308975	C C	CCCAGCAG others(353): Show CCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGAGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAG AAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGG AGGAGTGATCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	298	0.0034	360	c.177 others(379): Show c.1773+1763_1773+1764insCTGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGAGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTA GAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTG GAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309119	C C	CCCAGCAG others(353): Show CCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAA GGTCAGGGGTTGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGGAG GAGTGATCTCCAGCAGGTAGAAGGTCAGGGATTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTG AGGAGTGATCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0105 a0001c0011t0006g0105	1	298	0.0034	360	c.177 others(379): Show c.1773+1907_1773+1908insTGGAGGAGTGATCTCCAGCAGGTAGA AGGTCAGGGGTTGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGGA GGAGTGATCTCCAGCAGGTAGAAGGTCAGGGATTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTG ATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTA GAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTT GAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309293	G G	GTGATCCC others(353): Show GTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAG GTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATC CCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGCTGAGGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp2 HG02145.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0194 a0002c0005t0001g0197	2	298	0.0067	360	c.177 others(379): Show c.1773+2092_1773+2093insTAGTGATCCTCCGCAGGTAGAAGGTC AGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGT GATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGC TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGA CTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309394	C C	CTGAGTAG others(353): Show CTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAG GTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGG AGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCA GGTAGAAGGTCAGGGGCTGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGG GGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGAT CCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	298	0.0034	360	c.177 others(379): Show c.1773+2160_1773+2161insTGAGTAGTGATCCTCCGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAG GAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCTCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGATGG AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309577	A A	AGGAGTGA others(353): Show AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACT GATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGT GGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGG TCAGGGGTGGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0099 a0001c0017t0004g0099	1	298	0.0034	360	c.177 others(379): Show c.1773+2376_1773+2377insGGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGA TCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGG TGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309688	A A	AGTGATCC others(353): Show AGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCA GGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGG GGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGAT CCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGA GGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCA GGGGCTGAGGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	298	0.0034	360	c.177 others(379): Show c.1773+2477_1773+2478insCAGGGGTGGAGGAGTGATCTCCAGCA GGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGG GGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGAT CCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGA GGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCA GGGGCTGAGGGGTGATCCCCAGCAGGTAGAAGGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(353): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT ATATATATATC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0352 a0005c0008t0001g0353 a0005c0008t0001g0354 a0005c0008t0001g0352 a0005c0008t0001g0353 a0005c0008t0001g0354	3	356	0.0084	360	c.249 others(379): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(353): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0008 a0001c0009t0001g0008	1	391	0.0026	360	c.36 others(371): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835528	A A	AGCCCCCA others(353): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCATCCAGGCCC CGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	360	c.36 others(371): Show c.3651_*3652insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCATCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3511		chr19	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(353): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGG AAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGG AGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp2 HG02723.hp1 HG03139.hp2	a0019 a0020 a0019 a0020	a0019c0028 a0020c0027 a0019c0028 a0020c0027	a0019c0028t0004 a0020c0027t0004 a0019c0028t0004 a0020c0027t0004	a0019c0028t0004g0007 a0020c0027t0004g0008 a0019c0028t0004g0007 a0020c0027t0004g0008	2	184	0.0109	360	c.784 others(375): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAG GGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGG GAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAG GGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375092	T T	TGGAAGGG others(353): Show TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0055 a0013c0015t0001g0055	1	184	0.0054	360	c.784 others(375): Show c.784-340_784-339insTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(353): Show TTATATATATTATATATATATTTTTATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATTATATATATATTTATATATATATATTATATATATAT TTATATATATATATATTTTATATATATATATATATATTATATATATATAT ATATATATTATATATATATTTATATATATATATATTATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0182 a0003c0003t0002g0182	1	216	0.0046	360	c.-2- others(377): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATATAAATATATATATAATATATATATATATATATATAATAT ATATATATATATATAAAATATATATATATATAAATATATATATAATATAT ATATATAAATATATATATAATATATATATATATAAATATATATATAATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATTAT ATATATATAAAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCOR_chrX_40046251_40102958	40080061	C C	CAAGAAAA others(353): Show CAAGAAAAGGATGAGGGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	257	0.0039	360	c.-40 others(377): Show c.-40-2093_-40-2092insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCC CAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGATGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTTCCCTCATCCTTTTCTT	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	1/14			chrX	TogoVar
BOP1_chr8_144257045_144296438	144281354	C C	CCTCAGTT others(353): Show CCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTC TTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTC ATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTC TCTCACTTTCATACCAGGTCTTAGGCCTTCTCTCACTTTCATACCAGGTC TTAGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTC CCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTC TTTGGCCTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0045 a0001c0002t0001g0003 a0001c0002t0001g0045	3	398	0.0075	360	c.310 others(377): Show c.310-5051_310-5050insAGAAGGCCAAAGACCTGGTATGAAAGTG AGGGAAGGCCGAAGACCTGGTATTAAACTGAGGGAAGGCCTAAGACCTGG TATTAAACTGAGAGAAGGCCGAAGACCTGGTATTAAACTGAGGGAAGGCC GAAGACCTGGTATTAAAGTGAGAGAAGGCCTAAGACCTGGTATGAAAGTG AGAGAAGGCCTAAGACCTGGTATGAAAGTGAGAGAAGGCCTAAGACCTGG TATTAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCC GAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAGTG AGAGAAGGCCGAAGACCTGGTATTAAACTGAG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BRF1_chr14_105204286_105306001	105271908	C C	CAGCCTCC others(353): Show CAGCCTCCTCGCCCACCGCCTGCAGTCACGGTGTCCACGCACAAGGCCAA GCTGCACACCGCTGAGGGTCGGGGGCCTCCTCGCCCACCGCCTGCAGTCA CGGTGTCCACGCACAAGGCCAAGCTGCACACCGCTGAGGGTCGGCAGCCT CCTCGCCCACCGCCTGCAGTCACGGTGTCCACGCACAAGGCCAAGCTGCA CACCGCTGAGGGTCGGGGGCCTCCTCGCCCACCGCCTGCAGTCACGGTGT CCACGCACAAGGCCAAGCTGCACACCGCTGAGGGTCGGCAGCCTCCTCGC CCACCGCCTGCAGTCACGGTGTCCACGCACAAGGCCAAGCTGCACACCGC TGAGGGTCGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG00639.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0070 a0001c0001t0013g0072 a0001c0001t0008g0070 a0001c0001t0013g0072	2	72	0.0278	360	c.439 others(375): Show c.439+812_439+813insCCCGACCCTCAGCGGTGTGCAGCTTGGCCT TGTGCGTGGACACCGTGACTGCAGGCGGTGGGCGAGGAGGCTGCCGACCC TCAGCGGTGTGCAGCTTGGCCTTGTGCGTGGACACCGTGACTGCAGGCGG TGGGCGAGGAGGCCCCCGACCCTCAGCGGTGTGCAGCTTGGCCTTGTGCG TGGACACCGTGACTGCAGGCGGTGGGCGAGGAGGCTGCCGACCCTCAGCG GTGTGCAGCTTGGCCTTGTGCGTGGACACCGTGACTGCAGGCGGTGGGCG AGGAGGCCCCCGACCCTCAGCGGTGTGCAGCTTGGCCTTGTGCGTGGACA CCGTGACTGCAGGCGGTGGGCGAGGAGGCT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	3/17			chr14	TogoVar
BRSK2_chr11_1384934_1467689	1396221	C C	CCTCTTCC others(353): Show CCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCAC TCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCACTCCTCGTCTCTCTTCCCTTCCACCCACG TCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGG TCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTCGTCTCTCTTCCCTTC CACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCC ACTCCTCGTCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0182 a0001c0001t0076g0182	1	360	0.0028	360	c.91+ others(375): Show c.91+5928_91+5929insCCACCCACGTCCCCCACTCCTCGTCTCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCAC GTCCCCCACTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCACTCCTG GTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT CCACCCACGTCCCCCACTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCC CACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTCGTCTCT CTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCC ACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C20orf96_chr20_265863_295750	279041	A A	AGGGACGG others(353): Show AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAG GGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGG AGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGAGGGAGGGAG GGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGG CGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAG GGACGGAGGGC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	410	0.0024	360	c.465 others(375): Show c.465+130_465+131insGCCCTCCGTCCCTCCGTCCCGCCCTCCCGC CCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTC CCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCC TCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTC CCTCCCTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCC TCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTC CCTCCGTCCCGCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C9orf85_chr9_71906639_71978457	71929860	T T	TAAACTTA others(353): Show TAAACTTAAAGATATCTGGTCCGGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCACGCAGTCCGCAGTCCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	250	0.0040	360	c.103 others(379): Show c.103-17130_103-17129insGGTCCGGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGC AGTGAGCCGAGATTGCGCACGCAGTCCGCAGTCCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAACTTAAAGATATCT	C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
CABLES1_chr18_23130485_23265470	23218258	A A	ACATCCTC others(353): Show ACATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCAT CCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTT GCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGC CCTGCCTCCCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18967.hp2 NA18984.hp1 others(1): Show HG02280.hp2 NA18967.hp2 NA18984.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0006 a0001c0003t0014 a0002c0005t0051 a0001c0003t0006 a0001c0003t0014 a0002c0005t0051	a0001c0003t0006g0146 a0001c0003t0006g0149 a0001c0003t0014g0137 others(1): Show a0001c0003t0006g0146 a0001c0003t0006g0149 a0001c0003t0014g0137 a0002c0005t0051g0120	4	278	0.0144	360	c.108 others(379): Show c.1088+4293_1088+4294insGCTCCCGCATCCTCACTTGCCCTGGT TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218493	C C	CTCCCGCA others(353): Show CTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCT CCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCC CGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCG CATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCA TCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATC CTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCT CACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCA CTTGCCCTGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0170 a0001c0001t0032g0170	1	278	0.0036	360	c.108 others(379): Show c.1088+4461_1088+4462insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTC ACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218564	C C	CCTCCCGC others(353): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp2 HG03239.hp1 others(2): Show HG00741.hp1 HG01168.hp2 HG03239.hp1 HG03834.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0050 a0002c0002t0053	a0001c0001t0001g0274 a0001c0001t0003g0100 a0001c0001t0004g0229 others(2): Show a0001c0001t0001g0274 a0001c0001t0003g0100 a0001c0001t0004g0229 a0002c0002t0050g0090 a0002c0002t0053g0128	5	278	0.0180	360	c.108 others(379): Show c.1088+4533_1088+4534insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62397938	A A	ATGGCGGT others(353): Show ATGGCGGTGGTGGTGATGGTGGTGACGGTGGTGATGGTGATGATGGTGAT GGTTATGGCGGTGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTGATGG CGATGGTGGTGGTGACGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGCGGTGGTGGTGATGATGGTGATGGTTATGGCGGTGGT GGTGGTGGTGACAGTGATGGTGATGGTGGTGATGGCGATGGTGGTGGTGA CGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGCG GTGGTGGTGATGATGGTGATGGTTATGGCGGTGGTGGTGGTGGTGACAGT GATGGTGATGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0175 a0004c0007t0003g0175	1	400	0.0025	360	c.363 others(377): Show c.363-1347_363-1346insCCATCACCATCACTGTCACCACCACCAC CACCGCCATAACCATCACCATCATCACCACCACCGCCATCACCACCACCA CCACCACCACCACCACCACCGTCACCACCACCGTCACCACCACCATCGCC ATCACCACCATCACCATCACTGTCACCACCACCACCACCGCCATAACCAT CACCATCATCACCACCACCGCCATCACCACCACCACCACCACCACCACCA CCACCGTCACCACCACCGTCACCACCACCATCGCCATCACCACCATCACC ATCACTGTCACCACCACCACCACCGCCATAACCATCACCATCATCACCAT CACCACCGTCACCACCATCACCACCACCGCCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(353): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	166	0.0060	360	c.198 others(379): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(353): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02602.hp1 HG04199.hp2 others(1): Show HG02074.hp2 HG02602.hp1 HG04199.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0029 a0001c0001t0037 others(1): Show a0001c0001t0017 a0001c0001t0029 a0001c0001t0037 a0001c0002t0004	a0001c0001t0017g0159 a0001c0001t0029g0059 a0001c0001t0037g0052 others(1): Show a0001c0001t0017g0159 a0001c0001t0029g0059 a0001c0001t0037g0052 a0001c0002t0004g0077	4	214	0.0187	360	c.565 others(377): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(353): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAG GGAGGCGCGGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGATGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp1 others(8): Show HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02970.hp1 HG03139.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0119 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0003g0169 a0001c0001t0006g0160	11	198	0.0556	360	c.377 others(381): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCTGGGAGGGAGGCGCGGGGGGGGGGGGTCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCC AGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGATGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(353): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGG GAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAA GGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	340	0.0029	360	c.104 others(379): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CASP8_chr2_201255536_201292709	201284702	G G	GGGAGAGG others(353): Show GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGAGACGGGGAGAGGGAGAGGG AGAGGGAGACGGGAGACGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGG GGAGAGGAGCGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGGAGACGAGAGGGAGAG GGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0101 a0001c0001t0006g0101	1	386	0.0026	360	c.803 others(374): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGAGACGGGGAGAGGGAG AGGGAGAGGGAGACGGGAGACGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGAGCGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGGAGACGAGAGGG AGAGGGAGAGGGAGAGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(353): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCACGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCA CGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACG AGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAG CAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCA GGCATGTCCTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0109 a0001c0034t0001g0109	1	236	0.0042	360	c.-77 others(379): Show c.-77+16356_-77+16357insCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGG ACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGAC ATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACAT GCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGC CTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCT GCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACGTGCCTGC TCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88929658	G G	GTGGTCCA others(353): Show GTGGTCCACGCAAAAACTACCAATACCCACAGCTGCGTGGTCCACGCAAA AGCTACCAATACCCACAGCTGCATGGTCCACGCAAAAGCTACCAATACCC ACAGCTGCATGGTCCACGCAAAAGCTACCAATACCCACAGCTGCATGGTC CACGCAAAAGCTACCAATACCCACAGCTGCATGGTCCACACAAAAGCTAC CAATACCCACAGCTGCATCATCCACGCAAAAGCTACCCATGCCCACAGCT GCATCATCCACGCAAAAGTCACCAATACCCACAGCTGCATCGTCCACGCA AAAGCTACCAATACCCACAGCTGCATGGTCCACGCAAAAGCTACCAATAC CCACAGCTGCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp2 others(52): Show HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG02135.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02818.hp1 HG02895.hp1 HG03017.hp1 HG03195.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp2 NA18983.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19057.hp2 NA19065.hp1 NA19079.hp2 NA19085.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0004 a0004c0023 others(1): Show a0001c0001 a0002c0004 a0004c0023 a0009c0019	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0001t0031 a0002c0004t0001 a0004c0023t0001 a0009c0019t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(52): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0008g0179 a0001c0001t0009g0135 a0001c0001t0009g0160 a0001c0001t0016g0023 a0001c0001t0020g0262 a0001c0001t0031g0232 a0002c0004t0001g0138 a0002c0004t0001g0149 a0002c0004t0001g0161 a0004c0023t0001g0280 a0009c0019t0001g0207	55	284	0.1937	360	c.152 others(379): Show c.152-28003_152-28002insTGCAGCTGTGGGTATTGGTAGCTTTT GCGTGGACCATGCAGCTGTGGGTATTGGTAGCTTTTGCGTGGACGATGCA GCTGTGGGTATTGGTGACTTTTGCGTGGATGATGCAGCTGTGGGCATGGG TAGCTTTTGCGTGGATGATGCAGCTGTGGGTATTGGTAGCTTTTGTGTGG ACCATGCAGCTGTGGGTATTGGTAGCTTTTGCGTGGACCATGCAGCTGTG GGTATTGGTAGCTTTTGCGTGGACCATGCAGCTGTGGGTATTGGTAGCTT TTGCGTGGACCATGCAGCTGTGGGTATTGGTAGCTTTTGCGTGGACCACG CAGCTGTGGGTATTGGTAGTTTTTGCGTGGACCA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88929658	G G	GTGGTCCA others(353): Show GTGGTCCACGCAAAAACTACCAATACCCACAGCTGCGTGGTCCACGCAAA AGCTACCAATACCCACAGCTGCGTGGTCCACGCAAAAGCTACCAATACCC ACAGCTGCATGGTCCACGCAAAAGCTACCAATACCCACAGCTGCATGGTC CACGCAAAAGCTACCAATACCCACAGCTGCATGGTCCACACAAAAGCTAC CAATACCCACAGCTGCATCATCCACGCAAAAGCTACCCATGCCCACAGCT GCATCATCCACGCAAAAGTCACCAATACCCACAGCTGCATCGTCCACGCA AAAGCTACCAATACCCACAGCTGCATGGTCCACGCAAAAGCTACCAATAC CCACAGCTGCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	284	0.0035	360	c.152 others(379): Show c.152-28003_152-28002insTGCAGCTGTGGGTATTGGTAGCTTTT GCGTGGACCATGCAGCTGTGGGTATTGGTAGCTTTTGCGTGGACGATGCA GCTGTGGGTATTGGTGACTTTTGCGTGGATGATGCAGCTGTGGGCATGGG TAGCTTTTGCGTGGATGATGCAGCTGTGGGTATTGGTAGCTTTTGTGTGG ACCATGCAGCTGTGGGTATTGGTAGCTTTTGCGTGGACCATGCAGCTGTG GGTATTGGTAGCTTTTGCGTGGACCATGCAGCTGTGGGTATTGGTAGCTT TTGCGTGGACCACGCAGCTGTGGGTATTGGTAGCTTTTGCGTGGACCACG CAGCTGTGGGTATTGGTAGTTTTTGCGTGGACCA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882024	C C	CAGGGGGA others(353): Show CAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAG CCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0107 a0001c0001t0027g0107	1	288	0.0035	360	c.303 others(379): Show c.303+24097_303+24098insCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCT CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCT	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(353): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAA GGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAG GAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAA GCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18955.hp2 NA18979.hp1 NA18953.hp1 NA18955.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0065 a0001c0001t0002g0091 a0001c0006t0002g0272 a0001c0001t0002g0065 a0001c0001t0002g0091 a0001c0006t0002g0272	3	288	0.0104	360	c.303 others(379): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTC CTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	419951	G G	GTGTGCTG others(353): Show GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTT CCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAC ACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCTCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01257.hp2 others(7): Show HG00408.hp2 HG00639.hp2 HG01257.hp2 HG01943.hp1 NA18950.hp2 NA18971.hp1 NA18985.hp2 NA19012.hp2 NA19066.hp1 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0132 a0001c0001t0001g0251 a0001c0001t0001g0252 others(7): Show a0001c0001t0001g0132 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0267 a0001c0001t0001g0298 a0001c0001t0001g0313 a0003c0003t0002g0230 a0003c0003t0002g0231 a0003c0003t0002g0232 a0003c0003t0002g0385	10	432	0.0232	360	c.413 others(377): Show c.413+1319_413+1320insCTGGGAGTGAGAGGGTAAAATACACATA GCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGC AGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGC ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCA CCCTCCATGTTCCATTACAGTGCTCTTCTGTG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420098	G G	GTGTGCTG others(353): Show GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTT CCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAC ACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCTCTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	432	0.0023	360	c.413 others(377): Show c.413+1466_413+1467insCTGGGAGTGAGAGGGTAAAATACACATA GCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGC AGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGC ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCA CCCTCCATGTTCCATTACAGTGCTCTTCTGTG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(353): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0269 a0001c0001t0004g0269	1	424	0.0024	360	c.774 others(375): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(353): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAG ATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	440	0.0023	360	c.12 others(371): Show c.1214_*1215insTATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTATCTA GATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTA TCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATA TATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTA TCTAGATGTATCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPU_chr4_184689085_184739096	184730507	T T	TAAAGAAA others(353): Show TAAAGAAATGCACATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0276 a0003c0003t0003g0276	1	358	0.0028	360	c.96+ others(373): Show c.96+412_96+413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGCATGTGCATTTCTTT	CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	2/12			chr4	TogoVar
CFAP46_chr10_132803392_132947570	132813508	T T	TCCCTGCA others(353): Show TCCCTGCACACACCTGCCCCTGCAGCCCCACCCCTGCACACACCTGCCCC TGCAGCCCCGCCCCTGCACACACCTGCTCCTGCAGCCCCGCCCCTGCACA CACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCG CCCCTGCACACACCTGCCCCTGCAGCCCCACCCCTGCACACACCTGCCCC TGCAGCCCCACCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACA CACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCG CCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCC TGCAGCCCCGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp2 HG01106.hp1 HG02615.hp2	a0061 a0068 a0061 a0068	a0061c0092 a0068c0071 a0061c0092 a0068c0071	a0061c0092t0001 a0068c0071t0002 a0061c0092t0001 a0068c0071t0002	a0061c0092t0001g0125 a0068c0071t0002g0003 a0061c0092t0001g0125 a0068c0071t0002g0003	2	246	0.0081	360	c.738 others(377): Show c.7389-612_7389-611insGCGGGGCTGCAGGGGCAGGTGTGTGCAG GGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAG GTGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCT GCAGGGGCAGGTGTGTGCAGGGGTGGGGCTGCAGGGGCAGGTGTGTGCAG GGGTGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAG GTGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCT GCAGGAGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAG GGGTGGGGCTGCAGGGGCAGGTGTGTGCAGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132813657	G G	GCCCCTGC others(353): Show GCCCCTGCACACACCTGCCCCTGCAGCCCCACCCCTGCACACACCTGCCC CTGCAGCCCCACCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCAC ACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCC GCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCC CTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCAC ACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCTCCTGCAGCCCC GCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCC CTGCAGCCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02809.hp2 HG02258.hp1 HG02572.hp2 HG02809.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242	3	246	0.0122	360	c.738 others(377): Show c.7388+494_7388+495insTGGGGCTGCAGGGGCAGGTGTGTGCAGG GGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGAGCAGG TGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTG CAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGG GGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGG TGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTG CAGGGGCAGGTGTGTGCAGGGGTGGGGCTGCAGGGGCAGGTGTGTGCAGG GGTGGGGCTGCAGGGGCAGGTGTGTGCAGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(353): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18906.hp1 HG03471.hp1 NA18906.hp1	a0007 a0016 a0007 a0016	a0007c0006 a0016c0031 a0007c0006 a0016c0031	a0007c0006t0001 a0016c0031t0002 a0007c0006t0001 a0016c0031t0002	a0007c0006t0001g0179 a0016c0031t0002g0202 a0007c0006t0001g0179 a0016c0031t0002g0202	2	216	0.0093	360	c.141 others(377): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20357669	T T	TAGTGTGA others(353): Show TAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGA GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	236	0.0042	360	c.351 others(379): Show c.3514-2540_3514-2539insGTGTGAGGGGAGGTGGTCACAGTGTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGA GGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHL1_chr3_191763_414417	261992	A A	ACAGGGCA others(353): Show ACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGG GCAGGATTCACACGTTTGAGCCTAGATCTACACAGTACTCACAGGGCAGG ATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCA CACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGT TTGAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAG CCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAG ATCTACATAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTA CACAGTACTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0019 a0007c0006t0019	a0007c0006t0019g0124 a0007c0006t0019g0124	1	290	0.0035	360	c.-95 others(379): Show c.-95+17366_-95+17367insGAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTGAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCCAGATCTACATAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTACTCCCAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHODL_chr21_18239833_18272370	18251530	A A	AATATATT others(353): Show AATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATTAAAATAAATATTTATTTTAATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATAT AAAATATTTAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0297 a0001c0001t0006g0297	1	402	0.0025	360	c.80- others(375): Show c.80-4979_80-4978insATATATTAAAATAAATATTTATTTTATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATATAT AAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTAATAT TAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTA TTTATTTATTTTAATATATAAAATATTTAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5			chr21	TogoVar
CLEC10A_chr17_7069537_7085251	7077716	A A	ACCATCAA others(353): Show ACCATCAATCACTCCATCAGTGCCCTCTCCTCCATTCCCATCAATCACTC CATCAGTGCCCTCTCCTCCATTCCCATCAATCACTCCATCAGTGCCCTCT CCTCCATTCCCATCAATCACTCCATCAGTGCCCTCTCCTCCATTCCCATC AATCACTCCATCAGTGCCCTCTCCTCCATTCCCATCAATCACTCCATCAG TGCCCTCTCCTCCATTCCCATCAATCACTCCATCAGTGCCCTCTCCTCCA TTCCCATCAATCACTCCATCAGTGCCCTCTCCTCCATTCCCATCAATCAC TCCATCAGTGCCCTCTCCTCCATTCCCATCAATCACTCCATCAGTGCCCT CTCCTCCATTC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	458	0.0022	360	c.184 others(375): Show c.184+280_184+281insGAATGGAGGAGAGGGCACTGATGGAGTGAT TGATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGGGAATGGAG GAGAGGGCACTGATGGAGTGATTGATGGGAATGGAGGAGAGGGCACTGAT GGAGTGATTGATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGG GAATGGAGGAGAGGGCACTGATGGAGTGATTGATGGGAATGGAGGAGAGG GCACTGATGGAGTGATTGATGGGAATGGAGGAGAGGGCACTGATGGAGTG ATTGATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGGGAATGG AGGAGAGGGCACTGATGGAGTGATTGATGG	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(353): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCG CCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACC TCCCGCACCAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02723.hp2 HG01361.hp1 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0004 a0001c0003t0001 a0001c0004t0004	a0001c0003t0001g0318 a0001c0004t0004g0279 a0001c0003t0001g0318 a0001c0004t0004g0279	2	346	0.0058	360	c.360 others(377): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGC GGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGG TGGGGGAGGTGCCGTGGATGGCGGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar

Search by Variant

Search

Search Results