Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(165): Show GATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATTTCTATATATATATATATATTTCTATATATATATATTTCTATATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATATTTCTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	370	0.0027	172	c.56 others(183): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATTTCTATATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATATTTCTATAT ATATATATTTCTATATATATATATATTTCTATATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(165): Show GATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATTTCTATATATATATATATATTTCTATATATATATATTTCTATATA TATATATATTTCTATATATATATATTTCTATATATATATATATTTCTATA TATATATATATTTCTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	370	0.0027	172	c.56 others(183): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATTTCTATATATATATATATATTTCTATATAT ATATATTTCTATATATATATATATTTCTATATATATATATTTCTATATAT ATATATATTTCTATATATATATATATTTCTATATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955479	G G	GATATATA others(165): Show GATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATA TATATATTTCTATATATATATATATTTCTATATATATATATATTTCTATA TATATATATATTTCTATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	370	0.0027	172	c.56 others(183): Show c.5634_*5635insATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATATTTCTATATATATATATATTTCTATATATAT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1733		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(165): Show ATATATATATATATATATATATATATATATATATATATATATATTTCTAT ATATATATATATATATATTTCTATATATATATATATTTCTATATATATAT ATTTCTATATATATATATATTTCTATATATATATATTTCTATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	370	0.0027	172	c.56 others(183): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATATTTCTATATATATATATATATATATTTCTATATATATATATA TTTCTATATATATATATTTCTATATATATATATATTTCTATATATATATA TTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(165): Show ATATATATATATATATATATATATATATATATATATATATATTTCTATAT ATATATATATATATATATTTCTATATATATATATATTTCTATATATATAT ATTTCTATATATATATATATTTCTATATATATATATTTCTATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18974.hp2 NA18984.hp2 others(1): Show HG00609.hp2 NA18974.hp2 NA18984.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0024g0166	4	370	0.0108	172	c.56 others(183): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATTTCTATATATATATATATATATATATTTCTATATATATATATA TTTCTATATATATATATTTCTATATATATATATATTTCTATATATATATA TTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(165): Show ATATATATATATATATATATATATATATATGTATATATTTCTATATATAT ATATATATATATATATTTCTATATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 NA18988.hp1 HG00642.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0258 a0001c0001t0001g0266	2	370	0.0054	172	c.56 others(183): Show c.5645_*5646insTATATATATATATATATATATATATATATGTATA TATTTCTATATATATATATATATATATATATTTCTATATATATATATATT TCTATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(165): Show ATATATATATATATATATATATATATATGTATATATTTCTATATATATAT ATATATATATATATATTTCTATATATATATATATTTCTATATATATATAT TTCTATATATATATATATTTCTATATATATATATTTCTATATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	370	0.0027	172	c.56 others(183): Show c.5645_*5646insTATATATATATATATATATATATATATGTATATA TTTCTATATATATATATATATATATATATATTTCTATATATATATATATT TCTATATATATATATTTCTATATATATATATATTTCTATATATATATATT TCTATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(165): Show ATATATATATATATATATATATATTTCTATATATATATATATATATATAT ATTTCTATATATATATATATTTCTATATATATATATTTCTATATATATAT ATTTCTATATATATATATTTCTATATATATATATTTCTATATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	370	0.0027	172	c.56 others(183): Show c.5645_*5646insTATATATATATATATATATATATTTCTATATATA TATATATATATATATATTTCTATATATATATATATTTCTATATATATATA TTTCTATATATATATATTTCTATATATATATATTTCTATATATATATATT TCTATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(165): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATTTCTATATATATATATTTCTATATATATATAT TTCTATATATATATATTTCTATATATATATATTTCTATATATATATATAT ATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	370	0.0027	172	c.56 others(183): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATTTCTATATATATATATT TCTATATATATATATTTCTATATATATATATTTCTATATATATATATTTC TATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRLF2_chrX_1185490_1217649	1211381	A A	ATGGATGG others(165): Show ATGGATGGATGGATGGATGGATAAGTGGATAAAAGTGTGGGTGAATGCAT GGATAGATGGATGTATTGGTGGATGGATGGGTGGATGGGTGGATGGATGG ATGGATGGATGGATAAGTGGATAAAAGTGTGGGTGAATGCATGGATAGAT GGATGTATTGGTGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0034 a0002c0004t0001g0034	1	167	0.0060	172	c.79+ others(187): Show c.79+1003_79+1174dupCCCATCCATCCACCAATACATCCATCTATC CATGCATTCACCCACACTTTTATCCACTTATCCATCCATCCATCCATCCA TCCACCCATCCACCCATCCATCCACCAATACATCCATCTATCCATGCATT CACCCACACTTTTATCCACTTATCCATCCATCCATCCATCCA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240924741	A A	AGTCCCCA others(165): Show AGTCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTAAC CCAGTCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCAACACTA ACCTGGCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACT AATCCGGCCCCCACACTGACCCG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	350	0.0029	172	c.489 others(187): Show c.489-982_489-981insTCCCCACACTAACCCAGTCCCCCACACTAA CCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTA ATCCGGCCCCCAACACTAACCTGGCCCCCACACTGACCCAGCCCCCACAC TAACCCAGCCCCCACACTAATCCGGCCCCCACACTGACCCGG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924894	G G	GGCCCCCA others(165): Show GGCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTAACC CGGCCCCTCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACT GACCCAGTCCCCACACTGACCCA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0009 a0009	a0009c0048 a0009c0048	a0009c0048t0001 a0009c0048t0001	a0009c0048t0001g0207 a0009c0048t0001g0207	1	350	0.0029	172	c.489 others(187): Show c.489-797_489-796insAGCCCCCACACTAACCCGGCCCCTCACACT GACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACA CTAACCCGGCCCCCACACTAACCCGGCCCCCACACTGACCCAGTCCCCAC ACTGACCCAGCCCCCACACTGACCCGGCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3558166	C C	CACCCCGT others(165): Show CACCCCGTGTCCACTCCTCCAATGATGAATAGTGCCTCAGTAGTACCCCG TATCCCCTCCTCCAATGACAAATAGTGCCTCAATAGTACCCTGTGTCCAC TCCTCCAGTGATGAATGGTGCCTCAATGGAACTCCGTGTTCACTCCTCCA ATGATGAATGATGCCTCAGTAGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0055 a0003c0014t0055	a0003c0014t0055g0056 a0003c0014t0055g0056	1	126	0.0079	172	c.134 others(193): Show c.1344+16607_1344+16778dupACTACTGAGGCATCATTCATCATT GGAGGAGTGAACACGGAGTTCCATTGAGGCACCATTCATCACTGGAGGAG TGGACACAGGGTACTATTGAGGCACTATTTGTCATTGGAGGAGGGGATAC GGGGTACTACTGAGGCACTATTCATCATTGGAGGAGTGGACACGGGGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558336	A A	AGTACCCC others(165): Show AGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTACCC CGTGTCCACCCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCC ACTCCTGCAATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTC CAATGATGAACGGTGTCTCAATG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0035 a0001c0007t0001g0035	1	126	0.0079	172	c.134 others(193): Show c.1344+16608_1344+16609insCATTGAGACACCGTTCATCATTGG AGGAGTGGACATGGGGTACTATTGAGACACTATTCATCATTGCAGGAGTG GACACGGGGTACCATTGAGGCACCGTTCATCATTGGAGGGGTGGACACGG GGTACCATTGAGGCACCATTCATCATTGGAGGAGTGGACACGGGGTAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558368	G G	GGTGCCTC others(165): Show GGTGCCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGTCT CAATAGTACCCCATGTCCACTCCTCCAATGATGAACGGTGCCTCAATGGT ACCCCATGTCGACTCCTCCAACGATGAACGGTGTCTCAATAGTACCCCAT GTCCACTCCTCCAATGATGAATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp2 HG03139.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0050 a0002c0074 a0001c0050 a0002c0074	a0001c0050t0053 a0002c0074t0041 a0001c0050t0053 a0002c0074t0041	a0001c0050t0053g0120 a0002c0074t0041g0031 a0001c0050t0053g0120 a0002c0074t0041g0031	2	126	0.0159	172	c.134 others(193): Show c.1344+16576_1344+16577insTATTCATCATTGGAGGAGTGGACA TGGGGTACTATTGAGACACCGTTCATCGTTGGAGGAGTCGACATGGGGTA CCATTGAGGCACCGTTCATCATTGGAGGAGTGGACATGGGGTACTATTGA GACACCATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGGCAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558551	G G	GGTACCCC others(165): Show GGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAATAGTACCC CGTGTCCACTCCTCCAATGATGAATGGTGCCTCAGTAGTACCCCGTGTCC ACTCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCCACTCCTG CAATGATGAATGGTGTCTCAATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0017 a0001c0001t0039g0017	1	126	0.0079	172	c.134 others(193): Show c.1344+16393_1344+16394insTATTGAGACACCATTCATCATTGC AGGAGTGGACACGGGGTACCATTGAGGCACCGTTCATCATTGGAGGAGTG GACACGGGGTACTACTGAGGCACCATTCATCATTGGAGGAGTGGACACGG GGTACTATTGAGGCACCATTCATCATTGCAGGAGTGGACACGGGGTAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558587	T T	TCTCAATA others(165): Show TCTCAATAGTACCCCATGTCCACTCCTCCAATGATGAACGGTGTCTCAAT GGTACCCCATGTCGACTCCTCCAACGATGAACGGTGTCTCAATAGTACCC CGTGTCCACTCCTGCAATGATGAATAGTGCCTCAATAGTACCCCGTGTCC ACTCCTCCAATGATGAATAGTGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0019 a0001c0040t0019	a0001c0040t0019g0123 a0001c0040t0019g0123	1	126	0.0079	172	c.134 others(193): Show c.1344+16357_1344+16358insGCACTATTCATCATTGGAGGAGTG GACACGGGGTACTATTGAGGCACTATTCATCATTGCAGGAGTGGACACGG GGTACTATTGAGACACCGTTCATCGTTGGAGGAGTCGACATGGGGTACCA TTGAGACACCGTTCATCATTGGAGGAGTGGACATGGGGTACTATTGAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CTNND2_chr5_10966836_11909446	11144126	G G	GCACCAGC others(165): Show GCACCAGCTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTACACCAG CTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTGCACCAGCTAGGGG TTTCTACCATAGGGGCAGTCCCCAGGTCTGCACCAGCTAGGGGTTTCTAC CATAGGGGCAGTCCCCAGGTCTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG03471.hp1 others(1): Show HG00738.hp1 HG00738.hp2 HG03471.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0008 a0001c0001 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0007t0001 a0002c0008t0001 a0001c0001t0001 a0001c0007t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0007t0001g0002 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0007t0001g0002 a0002c0008t0001g0014	4	26	0.1539	172	c.215 others(193): Show c.2159+15449_2159+15450insTAGACCTGGGGACTGCCCCTATGG TAGAAACCCCTAGCTGGTGCAGACCTGGGGACTGCCCCTATGGTAGAAAC CCCTAGCTGGTGCAGACCTGGGGACTGCCCCTATGGTAGAAACCCCTAGC TGGTGTAGACCTGGGGACTGCCCCTATGGTAGAAACCCCTAGCTGGTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CUX2_chr12_111029165_111355554	111326290	T T	GGGTTTTG others(165): Show GGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGTGTTTTGTTTATAGTGT TGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTAT AGTGTTGTGGTGGGGGAGGGGTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0075 a0001c0004t0006g0075	1	100	0.0100	172	c.292 others(191): Show c.2926+3709_2926+3710insGGGTTTTGTTTATAGTGTTGTGGGGG AGGGGTGTGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGT TTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGT GGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21			chr12	TogoVar
D2HGDH_chr2_241729630_241773811	241760510	C C	CCACAGCG others(165): Show CCACAGCGTGGGTGGGCCTTACCCAATCAGTCAAAGGCCTTTGACACAGC GTGGGTGGGCCTTGCCCAATCAGTCGAAGTCCTTCGCCACAGTGTGGGTG GGCCTTACCCAATCAGTCGAAGTCCTTCGCCACAGTGTGGGTGGGCCTTA CCCAATCAGTCGAAGGACTTCGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02257.hp2 others(2): Show HG01167.hp1 HG01169.hp1 HG02257.hp2 HG02280.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0025 a0001c0001t0029 a0001c0001t0020 a0001c0001t0025 a0001c0001t0029	a0001c0001t0020g0084 a0001c0001t0020g0085 a0001c0001t0025g0028 others(1): Show a0001c0001t0020g0084 a0001c0001t0020g0085 a0001c0001t0025g0028 a0001c0001t0029g0014	5	412	0.0121	172	c.130 others(191): Show c.1306+4622_1306+4623insCGCCACAGTGTGGGTGGGCCTTACCC AATCAGTCGAAGGACTTCGACACAGCGTGGGTGGGCCTTACCCAATCAGT CAAAGGCCTTTGACACAGCGTGGGTGGGCCTTGCCCAATCAGTCGAAGTC CTTCGCCACAGTGTGGGTGGGCCTTACCCAATCAGTCGAAGTCCTT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(165): Show ATGTGTGTGTATATATACATATATACTATATGTGTGTATATATATACATA TATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTATA TATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATATAT ATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0118 a0001c0002t0012g0118	1	380	0.0026	172	c.-11 others(183): Show c.-1175_-1174insTGTGTGTGTATATATACATATATACTATATGTGT GTATATATATACATATATACTATATGTGTGTATATATATACATATATACT ATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTGTG TGTATATATATATATATATATATATTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCACACAC others(165): Show CCACACACCCCCCACACCACACATCCCCCACACCCCCCCACACCCCCACA CCCCCACACACCCCTCACACCACACATCCCCCACACCCCCCACACCCCCA CACCCCCACACCCCCCCACACCACACATCCCTCACACCCCCCCACACCCC CACACCCCCACACACCCCCCACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0010 a0003c0004t0002g0010	1	116	0.0086	172	c.207 others(191): Show c.2073+1464_2073+1465insACACACCCCCCACACCACACATCCCC CACACCCCCCCACACCCCCACACCCCCACACACCCCTCACACCACACATC CCCCACACCCCCCACACCCCCACACCCCCACACCCCCCCACACCACACAT CCCTCACACCCCCCCACACCCCCACACCCCCACACACCCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132149136	C C	CACACCAC others(165): Show CACACCACACCCCTAATCCCCTCGTGCCGCCGCCTCGCTCGACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	172	c.-48 others(183): Show c.-4841_-4840insTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAG GGGTGTGGTGTGAGCGAGGCGGCGCACTCACCGAGGGGATTAGGGGTGTG GTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTCG AGCGAGGCGGCGGCACGAGGGGATTAGGGGTGTGGTGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4818		chr12	TogoVar
DGKI_chr7_137376037_137851974	137472306	G G	GTATATAC others(165): Show GTATATACATATAATATAATATGTATATACATATAATATTATATGTATAT ACATTAAATATTATATGTATATATATAATATGTATATATACATATAATAT TATATGTATATATACATATAATTATTATATGTATATATACATAATATATG TATATATACATATATTATATGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0002 a0001c0011t0001g0031 a0001c0011t0001g0002 a0001c0011t0001g0031	2	94	0.0213	172	c.237 others(191): Show c.2374-2688_2374-2687insTACATATAATATATGTATATATACAT ATATTATGTATATATACATATAATAATTATATGTATATATACATATAATA TTATATGTATATATACATATTATATATATACATATAATATTTAATGTATA TACATATAATATTATATGTATATACATATTATATTATATGTATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DIP2B_chr12_50499985_50753657	50598754	T T	TCTCCCCT others(165): Show TCTCCCCTCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCT CTTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCT CCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCC CTCTCCCCTCCCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG00099.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0078 a0001c0001t0011g0080 a0001c0001t0006g0078 a0001c0001t0011g0080	2	284	0.0070	172	c.101 others(191): Show c.101-27221_101-27220insTCCCCTCCCCCTCCCCTCTCCCCCTC TCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCC TCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCT CCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912033	T T	TGGGGGGG others(165): Show TGGGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCC CGGGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGG GGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCCTGTCCTGGGGGGGGT CTGTCCTGGGGGGTCTGTCCTGG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0115 a0006c0027t0001g0115	1	170	0.0059	172	c.101 others(193): Show c.10135-1058_10135-1057insGGGGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCCGGGGGGGTCTGTCCTGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGG TCCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912126	C C	CGGGGGGG others(165): Show CGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTC TGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTG TCCTGGGGGGGGGTCTGTCCTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(27): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01243.hp1 HG01255.hp2 HG01884.hp1 HG01943.hp1 HG01981.hp2 HG02572.hp2 HG02818.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18950.hp2 NA18964.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0010 a0012 a0018 a0021 a0029 a0037 a0044 a0046 a0049 a0053 a0055 a0057 a0059 a0069	a0001c0003 a0001c0062 a0002c0004 others(17): Show a0001c0003 a0001c0062 a0002c0004 a0003c0005 a0003c0054 a0004c0006 a0010c0009 a0012c0021 a0018c0015 a0021c0031 a0029c0033 a0037c0048 a0044c0043 a0046c0061 a0049c0053 a0053c0057 a0055c0071 a0057c0073 a0059c0091 a0069c0096	a0001c0003t0002 a0001c0062t0002 a0002c0004t0002 others(17): Show a0001c0003t0002 a0001c0062t0002 a0002c0004t0002 a0003c0005t0002 a0003c0054t0002 a0004c0006t0001 a0010c0009t0002 a0012c0021t0001 a0018c0015t0002 a0021c0031t0002 a0029c0033t0002 a0037c0048t0002 a0044c0043t0002 a0046c0061t0002 a0049c0053t0002 a0053c0057t0002 a0055c0071t0001 a0057c0073t0002 a0059c0091t0002 a0069c0096t0002	a0001c0003t0002g0059 a0001c0003t0002g0060 a0001c0003t0002g0075 others(27): Show a0001c0003t0002g0059 a0001c0003t0002g0060 a0001c0003t0002g0075 a0001c0003t0002g0097 a0001c0003t0002g0154 a0001c0062t0002g0112 a0002c0004t0002g0045 a0002c0004t0002g0046 a0002c0004t0002g0048 a0003c0005t0002g0077 a0003c0005t0002g0118 a0003c0054t0002g0063 a0004c0006t0001g0068 a0010c0009t0002g0032 a0010c0009t0002g0146 a0012c0021t0001g0166 a0012c0021t0001g0167 a0018c0015t0002g0094 a0018c0015t0002g0110 a0021c0031t0002g0138 a0029c0033t0002g0062 a0037c0048t0002g0100 a0044c0043t0002g0090 a0046c0061t0002g0092 a0049c0053t0002g0054 a0053c0057t0002g0133 a0055c0071t0001g0129 a0057c0073t0002g0123 a0059c0091t0002g0001 a0069c0096t0002g0168	30	170	0.1765	172	c.101 others(191): Show c.10135-935_10135-934insTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGTGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912126	C C	CGGGGGGG others(165): Show CGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTG TGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTG TCCTGGGGGGGGGTCTGTCCTGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01934.hp2 HG03017.hp1 others(4): Show HG01433.hp1 HG01934.hp2 HG03017.hp1 HG03688.hp1 HG03927.hp1 HG04204.hp2 NA20752.hp1	a0002 a0022 a0060 a0002 a0022 a0060	a0002c0004 a0002c0089 a0022c0030 others(1): Show a0002c0004 a0002c0089 a0022c0030 a0060c0090	a0002c0004t0002 a0002c0089t0001 a0022c0030t0002 others(1): Show a0002c0004t0002 a0002c0089t0001 a0022c0030t0002 a0060c0090t0002	a0002c0004t0002g0035 a0002c0004t0002g0143 a0002c0004t0002g0144 others(4): Show a0002c0004t0002g0035 a0002c0004t0002g0143 a0002c0004t0002g0144 a0002c0089t0001g0085 a0022c0030t0002g0140 a0022c0030t0002g0141 a0060c0090t0002g0038	7	170	0.0412	172	c.101 others(191): Show c.10135-935_10135-934insTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTGTGTCCTGGGTGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912173	T T	TGGGGGGG others(165): Show TGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGTG GGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGG GGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGG GTCTGTCCTGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0064 a0064	a0064c0076 a0064c0076	a0064c0076t0002 a0064c0076t0002	a0064c0076t0002g0021 a0064c0076t0002g0021	1	170	0.0059	172	c.101 others(191): Show c.10135-919_10135-918insGTCTGTCCTGGGGGGTCTGTCCTGGG TGGGTCTGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGG GGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGG GGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK3_chr3_50669927_51389198	51015844	G G	GAAATATA others(165): Show GAAATATATATCATATATATGATATATATATCATATATATGAAATATATG ATATATATCATATATATGATATATATCATATATATCATATATATCATATA TATCATATATATATCATATATATCATATATATGATATATATATCATATAT ATCATATATATCATATATATGAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	212	0.0047	172	c.316 others(191): Show c.316-48603_316-48602insAATATATATCATATATATGATATATA TATCATATATATGAAATATATGATATATATCATATATATGATATATATCA TATATATCATATATATCATATATATCATATATATATCATATATATCATAT ATATGATATATATATCATATATATCATATATATCATATATATGATA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(165): Show AATATATATAATATGTATATATAATATATATATAATATGTATATATAATA TATATATAATATATATAATATATATAATATATATATAATATATATAATAT ATATATATATATATATATATATATATATATATATATATATATAATATATA TATTTAAAAGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0129 a0010c0013t0001g0129	1	298	0.0034	172	c.554 others(189): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATATATATATATATATATATATATATAT ATATATATATAATATATATATTTAAAAGTATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89634529	C C	CCTTCCTT others(165): Show CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTTCCCTTCCTTCTCCTTTCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	250	0.0040	172	c.105 others(189): Show c.105-1378_105-1377insTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTTCCCTTCCTTCTCCTTTCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635206	T T	TTCCTTCC others(165): Show TTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCGTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	250	0.0040	172	c.105 others(187): Show c.105-696_105-695insCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT CTCCGTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP9_chr19_4670227_4728842	4702841	G G	GGGGAGGG others(165): Show GGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAG AGGGAGGGAGAGGGAGGGAAGGAAAGGGAAGGAGAGAGGGAGGGAGAGGG AGGGAGAGGGAGGGAAGGAAAGGGAAGGAGAGAGGGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0234 a0001c0001t0017g0234	1	314	0.0032	172	c.770 others(187): Show c.770-126_770-125insTCTCCCTCCCTCTCCCTCCCTCTCCCTCCC TCTCCCTCCCTCTCTCCTTCCCTTTCCTTCCCTCCCTCTCCCTCCCTCTC CCTCCCTCTCTCCTTCCCTTTCCTTCCCTCCCTCTCCCTCCCTCTCCCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding	7/21			chr19	TogoVar
DYSF_chr2_71448561_71691763	71479156	T T	TAAGAGCC others(165): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0050 a0002c0022t0001g0050	1	192	0.0052	172	c.89- others(187): Show c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAGCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	1/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71479156	T T	TAAGAGCC others(165): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0111 a0002c0022t0001g0111	1	208	0.0048	172	c.92- others(187): Show c.92-1720_92-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAGCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	1/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFCAB6_chr22_43523778_43817305	43784556	T T	TACACATA others(165): Show TACACATATATATGTATATATACACATATATGTGTATATATACACACATA TATATGTGTATATATACACACATATATATGTGTATATATACATATATGTG TGTATATATACACATATATGTGTATATATACACACATATATGTGTGTATA TATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0202 a0008c0008t0001g0202	1	290	0.0035	172	c.-7- others(187): Show c.-7-2232_-7-2231insGTATATATACACATATATGTATATATACAC ACATATATGTGTGTATATATACACATATATGTGTATATATACACACATAT ATGTATATATACACATATATATGTGTGTATATATACACATATATATGTGT GTATATATACACATATATGTGTATATATACATATATATGTGT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784556	T T	TACACATA others(165): Show TACACATATATATGTATATATACACATATATGTGTATATATACACACATA TATATGTGTATATATACACATATATGTGTATATATACACACATATATGTG TGTATATATACACATATATGTGTATATATACACACATATATATGTGTATA TATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	290	0.0035	172	c.-7- others(187): Show c.-7-2232_-7-2231insGTATATATACACATATATGTATATATACAC ATATATATGTGTGTATATATACACATATATGTGTATATATACACACATAT ATGTGTGTATATATACACATATATGTGTATATATACACATATATATGTGT GTATATATACACATATATGTGTATATATACATATATATGTGT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EHMT1_chr9_137614005_137841127	137716173	T T	TGGGGGGG others(165): Show TGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0034 a0001c0011t0001g0034	1	170	0.0059	172	c.86- others(185): Show c.86-448_86-447insGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716247	G G	GGTGTCAT others(165): Show GGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0150 a0001c0008t0001g0150	1	170	0.0059	172	c.86- others(185): Show c.86-376_86-375insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3329304	G G	GCTGGGCT others(165): Show GCTGGGCTCCCCTGAATCAGAGCCCACCCACCATGCTCTAATGATCTCAG GGCGCCAGCCTGGGCTCCCCTGGATCAGACTCTACCCACCACGCTCTAAT GATCTCAGGGCACCAGCTGGGCTCCCCTGAATCAGAGCCCACCCACCACG CTCTAATGATCTCGGATGCCAGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG03225.hp1 HG02622.hp2 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0016 a0001c0001t0002g0010 a0001c0005t0001g0104 a0001c0001t0001g0016 a0001c0001t0002g0010 a0001c0005t0001g0104	3	250	0.0120	172	c.259 others(189): Show c.259+8712_259+8713insGCTGGCATCCGAGATCATTAGAGCGTGG TGGGTGGGCTCTGATTCAGGGGAGCCCAGCTGGTGCCCTGAGATCATTAG AGCGTGGTGGGTAGAGTCTGATCCAGGGGAGCCCAGGCTGGCGCCCTGAG ATCATTAGAGCATGGTGGGTGGGCTCTGATTCAGGGGAGCCCAG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EML6_chr2_54718662_54977025	54817926	C C	CAATAGAA others(165): Show CAATAGAACCTCAGTGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA21309.hp2 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0014g0008 a0001c0001t0014g0009	2	264	0.0076	172	c.456 others(189): Show c.456+1055_456+1056insGCGTGAACCCGGGAAGCAGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGAACCTCAGT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENOX1_chr13_43208130_43791972	43616103	G G	GATAGATA others(165): Show GATAGATATCTATATAGATAGATATCTATATAGATAGATATCTATATAGA TAGATATCTATATAGATAGATATCTATATAGATAGATATCTATATATAGA TATCTATATAGATAGATATCTATATATAGATATCTATATAGATAGATATC TATATATCTATAGATATCTATCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	188	0.0053	172	c.-21 others(193): Show c.-219+51375_-219+51376insAGATAGATATCTATAGATATATAG ATATCTATCTATATAGATATCTATATATAGATATCTATCTATATAGATAT CTATATATAGATATCTATCTATATAGATATCTATCTATATAGATATCTAT CTATATAGATATCTATCTATATAGATATCTATCTATATAGATATCTAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ERC1_chr12_986223_1500931	1122145	A A	ATCTATCT others(165): Show ATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTATCTCTATCT CTATCTCTATCTCTATATCTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18612.hp2 HG01257.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0114 a0001c0001t0011 a0001c0001t0114	a0001c0001t0011g0034 a0001c0001t0114g0051 a0001c0001t0011g0034 a0001c0001t0114g0051	2	162	0.0124	172	c.156 others(191): Show c.1569+6115_1569+6116insATCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCT GTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTATCTCTATCTCTATCTCTATCTCTATATCTGTGTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	700480	G G	GCGCACAG others(165): Show GCGCACAGACCCGCACACGCGCACAGGCCCGCACACGCGCACAGGCCCGC ACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGC CCGCACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCAC AGGCCCGCACACGCGCACAGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0322 a0003c0004t0002g0322	1	378	0.0027	172	c.170 others(189): Show c.170-7869_170-7868insGGCCTGTGCGCGTGTGCGGGCCTGTGCG CGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGCCTG TGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGG CCTGTGCGCGTGTGCGGGCCTGTGCGCGTGTGCGGGTCTGTGCG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERRFI1_chr1_8006727_8031309	8027004	C C	CAGTGTGG others(165): Show CAGTGTGGGACGGTGAGGGACAGTGTGGGACGGTGAGGGACAGTGAGGGA CAGTGTGGGACGGTGAGGGACAGTGAGGGACTGTGTAGGACAGTGAGGGA CAGTGTGGGACGGTGAGGGACAGTGAGGGACTGTGTAGGACAGTGAGGGA CAGTGTGGGACGGTGAGGGACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 NA20300.hp1 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0127 a0001c0001t0001g0128	2	402	0.0050	172	c.-92 others(181): Show c.-921_-920insCAGTCCCTCACCGTCCCACACTGTCCCTCACTGTCC TACACAGTCCCTCACTGTCCCTCACCGTCCCACACTGTCCCTCACTGTCC TACACAGTCCCTCACTGTCCCTCACCGTCCCACACTGTCCCTCACTGTCC CTCACCGTCCCACACTGTCCCTCACCGTCCCACACT	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		696		chr1	TogoVar
EXOC2_chr6_480154_698139	501612	A A	ATATTATA others(165): Show ATATTATATATATCTATATATTATATATATATTATATATATTATATATAT ATTATATATATCTATATATATTATATATATTATATATATCTATATATATT ATATATATCTATATATATTATATATAATATATAGATATATATTATATATC TATATATAATATCTATATTATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	272	0.0037	172	c.238 others(191): Show c.2381-1913_2381-1912insATATAATATAGATATTATATATAGAT ATATAATATATATCTATATATTATATATAATATATATAGATATATATAAT ATATATAGATATATATAATATATATAATATATATAGATATATATAATATA TATATAATATATATAATATATATATAATATATAGATATATATAATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FAAP100_chr17_81534891_81557353	81535264	C C	CCAGCAGC others(165): Show CCAGCAGCAACCTTCCCCCAGCGCCATCCCAGGCCTCGCCCACTCCATCC CCCACCCACCACCAGCCTCCAGCCCCATGACCTCAAGCCAGCCGCTCCAG CGCAGCTCCACCATGCTCGCTCAGCCATCCAGCCCCAGCGACCCAGCCCC AGTCCCTAGGCACCACCAGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0124 a0001c0001t0006g0124	1	436	0.0023	172	c.55 others(183): Show c.5554_*5555insCGGGCTGGTGGTGCCTAGGGACTGGGGCTGGGTC GCTGGGGCTGGATGGCTGAGCGAGCATGGTGGAGCTGCGCTGGAGCGGCT GGCTTGAGGTCATGGGGCTGGAGGCTGGTGGTGGGTGGGGGATGGAGTGG GCGAGGCCTGGGATGGCGCTGGGGGAAGGTTGCTGCTG	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding		4626		chr17	TogoVar
FAM219B_chr15_74894992_74911851	74911371	G G	GAGAATGA others(165): Show GAGAATGACAGCGAGGGAGGACAAAAGAAAAAGGAAAGGGGGGGGAAAGA AGGGAAAAAAAAAGAAGAAAAAGGGAGGGAAAGAAAAAGGGAAAAAAAAA AGGGAAGACTAGGAAAAAAGAAGGGAAAAAGCAAAAAAAGAGGAGGGGAA GGAATAAAGGAAAGGGAGAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	432	0.0023	172	c.-45 others(183): Show c.-4572_-4571insTTTTTCTCCCTTTCCTTTATTCCTTCCCCTCCTC TTTTTTTGCTTTTTCCCTTCTTTTTTCCTAGTCTTCCCTTTTTTTTTTCC CTTTTTCTTTCCCTCCCTTTTTCTTCTTTTTTTTTCCCTTCTTTCCCCCC CCTTTCCTTTTTCTTTTGTCCTCCCTCGCTGTCATTCT	FAM219B	ENSG00000178761.15	transcript	ENST00000357635.10	protein_coding		4521		chr15	TogoVar
FER1L5_chr2_96637764_96709883	96659362	C C	CTTCTTTC others(165): Show CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0125 a0002c0001t0001g0125	1	226	0.0044	172	c.748 others(187): Show c.748-972_748-971insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar

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