Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TCN2_chr22_30602174_30632271	30623921	T T	TATACACA others(199): Show TATACACACATATACACACATACATATATACACATATACACACACACATA TATACACACATGTATACATATATATACACACGTATACATATGTATACACA CATATATATGTATACATATGTATACACACACATATATATGTATACATATA TACACACACATATATGTATACATATATACACACATGTATACATATATACA CACATAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18971.hp2 NA18977.hp2 others(2): Show NA18947.hp1 NA18971.hp2 NA18977.hp2 NA18990.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0082 a0001c0001t0003g0010 a0001c0001t0003g0082	5	466	0.0107	206	c.122 others(223): Show c.1222+841_1222+842insCACACATATACACACATACATATATACA CATATACACACACACATATATACACACATGTATACATATATATACACACG TATACATATGTATACACACATATATATGTATACATATGTATACACACACA TATATATGTATACATATATACACACACATATATGTATACATATATACACA CATGTATACATATATACACACATACATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TATACACA others(199): Show TATACACACATATACACACATACATATATACACATATACACACACACATA TATACACACATGTATACATATATATACACATGTATACATATGTATACACA CATATATGTATACATATGTATACACACACATATATATGTATACATATATA CACACACATATATATGTATACATATATACACACATGTATACATATATACA CACATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0340 a0001c0001t0003g0340	1	466	0.0022	206	c.122 others(223): Show c.1222+841_1222+842insCACACATATACACACATACATATATACA CATATACACACACACATATATACACACATGTATACATATATATACACATG TATACATATGTATACACACATATATGTATACATATGTATACACACACATA TATATGTATACATATATACACACACATATATATGTATACATATATACACA CATGTATACATATATACACACATACATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TECTA_chr11_121096243_121196490	121185348	C C	CAATGCTT others(199): Show CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGT TCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAA TGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAACGAGTAGGGAAAGCA GATGTTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0316 a0001c0014t0006g0316	1	348	0.0029	206	c.600 others(225): Show c.6000-2450_6000-2449insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAACGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185359	G G	GAATGAGT others(199): Show GAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02622.hp1 HG02698.hp1 others(1): Show HG01099.hp2 HG02622.hp1 HG02698.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0001c0041 a0003c0007 a0001c0005 a0001c0041 a0003c0007	a0001c0005t0001 a0001c0041t0001 a0003c0007t0001 a0001c0005t0001 a0001c0041t0001 a0003c0007t0001	a0001c0005t0001g0047 a0001c0005t0001g0311 a0001c0041t0001g0286 others(1): Show a0001c0005t0001g0047 a0001c0005t0001g0311 a0001c0041t0001g0286 a0003c0007t0001g0190	4	348	0.0115	206	c.600 others(225): Show c.6000-2448_6000-2447insGTGCTTAATGAATGAGTAGGGAAAGC AGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTT AATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAA TGCTTAATGAGTAGGGAAAGCAGATGTTCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185537	C C	CGAGTAGG others(199): Show CGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTA ATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAAT GCTTAAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG03239.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0035 a0001c0003 a0001c0006 a0001c0035	a0001c0003t0002 a0001c0006t0002 a0001c0035t0002 a0001c0003t0002 a0001c0006t0002 a0001c0035t0002	a0001c0003t0002g0292 a0001c0006t0002g0059 a0001c0035t0002g0170 a0001c0003t0002g0292 a0001c0006t0002g0059 a0001c0035t0002g0170	3	348	0.0086	206	c.600 others(225): Show c.6000-2240_6000-2239insCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1272751	A A	ACACATCA others(199): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	392	0.0026	206	c.228 others(223): Show c.2287-472_2287-471insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACACATCA others(199): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	392	0.0026	206	c.228 others(223): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACATCAGA others(199): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC AACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCT ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0262 a0001c0003t0001g0262	1	392	0.0026	206	c.228 others(225): Show c.2287-1123_2287-1122insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGTCC others(199): Show CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCG GGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0008 a0011 a0008 a0011	a0008c0031 a0011c0017 a0008c0031 a0011c0017	a0008c0031t0001 a0011c0017t0001 a0008c0031t0001 a0011c0017t0001	a0008c0031t0001g0161 a0011c0017t0001g0063 a0008c0031t0001g0161 a0011c0017t0001g0063	2	206	0.0097	206	c.443 others(225): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCGCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGTCC others(199): Show CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0001 a0025c0038t0001	a0025c0038t0001g0064 a0025c0038t0001g0064	1	206	0.0049	206	c.443 others(225): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THBS3_chr1_155190588_155212897	155190862	T T	TCTCCGGG others(199): Show TCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGG GCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGG TGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCT GGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGA CACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	206	c.49 others(217): Show c.4978_*4979insCACGGTGTCACCTCGGCCCCGGACACCAGGCCGG CCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGA CACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACC TCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCA CGGTGTCACCTCGGCCCCGGAG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4725		chr1	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCACCC others(199): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCTCT GTGCCCCACCCAGCCTCTCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	370	0.0027	206	c.-15 others(217): Show c.-1533_-1532insCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGAGAGGCTGGGTGGGGCACAGAGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
TIMM22_chr17_992129_1008671	993519	C C	CCCTCACG others(199): Show CCCTCACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACC CTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACAT AATCCACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCAC CTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTCACA TAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG01884.hp2 others(20): Show HG01109.hp1 HG01192.hp1 HG01884.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03688.hp1 HG04228.hp1 NA18975.hp2 NA19089.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0029	a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0028 others(10): Show a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0028 a0001c0001t0003g0095 a0001c0001t0005g0015 a0001c0001t0008g0086 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0011g0090 a0001c0001t0029g0091	23	439	0.0524	206	c.-36 others(217): Show c.-3624_-3623insCCTCACGTAATCCACCCTCACGTAATCCACCTCA CATAATCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACAT AATCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCA CCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACA TAATCCACCCTCACATAATCCA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3609		chr17	TogoVar
TMCO3_chr13_113486021_113555229	113543413	C C	CCCCCACC others(199): Show CCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCC TCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCTCCTCCCC CTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCCCCCGCC CTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTG TCCGTGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04204.hp1 HG03453.hp1 HG04204.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0039 a0003c0002t0002g0040	2	368	0.0054	206	c.169 others(225): Show c.1691-3872_1691-3871insTTGCCCCCCCGCCCTCCCTCTGTCCG TGACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACC TCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTG CCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGC CCTCCCTGTCCGTGACCCCACCTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113543413	C C	CCCCCACC others(199): Show CCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCC TCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCTCCTCCCC CTGCCCCCCGCCCTCCCTGTCCGTGACCCCCTCCTCCCCCTGCCCCCGCC CTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTG TCCGTGA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0002 a0007c0021t0002	a0007c0021t0002g0054 a0007c0021t0002g0054	1	368	0.0027	206	c.169 others(225): Show c.1691-3872_1691-3871insTTGCCCCCCCGCCCTCCCTCTGTCCG TGACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACC TCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCCCCTCCTCCCCCTG CCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGC CCTCCCTGTCCGTGACCCCACCTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCTGGGGT others(199): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0309 a0002c0002t0008g0309	1	314	0.0032	206	c.189 others(221): Show c.189-782_189-781insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747813	G G	GCTGGGGT others(199): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0095 a0002c0002t0095	a0002c0002t0095g0245 a0002c0002t0095g0245	1	314	0.0032	206	c.189 others(221): Show c.189-494_189-493insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748063	G G	GCTGGGGT others(199): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0266 a0001c0001t0007g0266	1	314	0.0032	206	c.189 others(221): Show c.189-242_189-241insTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM65_chr8_124301189_124377701	124302548	T T	TATATTCT others(199): Show TATATTCTTTTATATATTTATATATATATTCTTTTATATATTTATATATA AATATTCTTTTATATATTTATAAATAAATATTCTTTTATATATTTATATA TAAATATTCTTTTATATATTTATATATAAATATTCTTTTATATATTTATA TATAAATATTCTTTTATATATTTATATATAAATATTCTTTTATATATTTA TATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0208	1	348	0.0029	206	c.11 others(219): Show c.11411_*11412insTTATATATAAATATATAAAAGAATATTTATAT ATAAATATATAAAAGAATATTTATATATAAATATATAAAAGAATATTTAT ATATAAATATATAAAAGAATATTTATATATAAATATATAAAAGAATATTT ATTTATAAATATATAAAAGAATATTTATATATAAATATATAAAAGAATAT ATATATAAATATATAAAAGAATAT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3640		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302589	A A	ATATATAT others(199): Show ATATATATATAAATATATATTCTTTTATATATATATAAATATATATTCTT TTATATATATATAAATATATATTCTTTTATATATATATAAATATATATTC TTTTATATATATATAAATATATATTCTTTTATATATATATAAATATATAT TCTTTTATATATATATAAATATATATTCTTTTATATATATATAAATATAT ATTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03130.hp2 HG03453.hp2 others(2): Show HG02145.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0023 a0001c0001t0012g0024 others(2): Show a0001c0001t0012g0002 a0001c0001t0012g0023 a0001c0001t0012g0024 a0001c0001t0012g0025 a0001c0001t0012g0032	5	348	0.0144	206	c.11 others(219): Show c.11370_*11371insAAAGAATATATATTTATATATATATAAAAGAA TATATATTTATATATATATAAAAGAATATATATTTATATATATATAAAAG AATATATATTTATATATATATAAAAGAATATATATTTATATATATATAAA AGAATATATATTTATATATATATAAAAGAATATATATTTATATATATATA AAAGAATATATATTTATATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3599		chr8	TogoVar
TMTC2_chr12_82681906_83139866	82997370	A A	ATATATAT others(199): Show ATATATATATGTGTATATATATATGTGTATATATATATATATGTGTATAT ATATATGTGTGTATATATATATGTGTATATATATATGTGTATATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATATGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 NA19240.hp1 HG02886.hp2 HG03453.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0010 a0001c0001t0027 a0002c0004t0016 a0001c0001t0010 a0001c0001t0027 a0002c0004t0016	a0001c0001t0010g0017 a0001c0001t0027g0006 a0002c0004t0016g0085 a0001c0001t0010g0017 a0001c0001t0027g0006 a0002c0004t0016g0085	3	96	0.0313	206	c.207 others(227): Show c.2070+11333_2070+11334insGTGTATATATATATGTGTATATAT ATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATATAT ATGTGTATATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATATGTGTATATATATATGTGTATATATATATGTGTATATAT ATATGTGTATATATATATATGTGTATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOP1MT_chr8_143304324_143339880	143307085	A A	ATGGCAGA others(199): Show ATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCGGCAGAGGAGAGGGCG GCAGAGGGTCCCGCATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCAG CAGAGGATCCCACGTAGCAGAGGAGAGGGCGGCAGAGGGTCCCATGTGGC AGAGAGGGCGGCAGAGGGTCCCGCGTGGCAGAGAAGAGGGCGGCAGAGGG TCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02647.hp2 HG01884.hp2 HG02647.hp2	a0002 a0021 a0002 a0021	a0002c0032 a0021c0018 a0002c0032 a0021c0018	a0002c0032t0001 a0021c0018t0001 a0002c0032t0001 a0021c0018t0001	a0002c0032t0001g0090 a0021c0018t0001g0042 a0002c0032t0001g0090 a0021c0018t0001g0042	2	430	0.0047	206	c.23 others(217): Show c.2355_*2356insCGCGGGACCCTCTGCCGCCCTCTTCTCTGCCACG CGGGACCCTCTGCCGCCCTCTCTGCCACATGGGACCCTCTGCCGCCCTCT CCTCTGCTACGTGGGATCCTCTGCTGCCCTCTTCTCTGCCACGTGGGATC CTCTGCCATGCGGGACCCTCTGCCGCCCTCTCCTCTGCCGCCCTCTTCTC TGCCACGTGGGATCCTCTGCCA	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		2238		chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143307085	A A	ATGGCAGA others(199): Show ATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCGGCAGAGGAGAGGGCG GCAGAGGGTCCCGCATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCAG CAGAGGATCCCACGTAGCAGAGGAGAGGGCGGCAGAGGGTCCCATGTGGC AGAGAGGGCGGCAGAGGGTCCCGCGTGGCAGAGAAGAGGGTGGCAGAGGG TCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02486.hp1 others(18): Show HG01891.hp1 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0002 a0004 a0017 a0002 a0004 a0017	a0002c0004 a0002c0006 a0004c0007 others(1): Show a0002c0004 a0002c0006 a0004c0007 a0017c0035	a0002c0004t0001 a0002c0006t0001 a0004c0007t0001 others(1): Show a0002c0004t0001 a0002c0006t0001 a0004c0007t0001 a0017c0035t0001	a0002c0004t0001g0043 a0002c0004t0001g0097 a0002c0004t0001g0098 others(16): Show a0002c0004t0001g0043 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0006t0001g0124 a0002c0006t0001g0218 a0004c0007t0001g0040 a0004c0007t0001g0041 a0004c0007t0001g0368 a0004c0007t0001g0369 a0004c0007t0001g0370 a0004c0007t0001g0371 a0004c0007t0001g0372 a0004c0007t0001g0373 a0004c0007t0001g0374 a0004c0007t0001g0375 a0004c0007t0001g0377 a0017c0035t0001g0096	21	430	0.0488	206	c.23 others(217): Show c.2355_*2356insCGCGGGACCCTCTGCCACCCTCTTCTCTGCCACG CGGGACCCTCTGCCGCCCTCTCTGCCACATGGGACCCTCTGCCGCCCTCT CCTCTGCTACGTGGGATCCTCTGCTGCCCTCTTCTCTGCCACGTGGGATC CTCTGCCATGCGGGACCCTCTGCCGCCCTCTCCTCTGCCGCCCTCTTCTC TGCCACGTGGGATCCTCTGCCA	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		2238		chr8	TogoVar
TRAF3IP1_chr2_238315518_238405897	238398194	G G	GCCCTGCA others(199): Show GCCCTGCAGCAGGAGCAGAGGCGGGGGGGTAGCAGGGGGGGTAGTAATGG GGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGTAATGGGGGGGT GCCCTGCAGCAGGAGCAGAGTTGGGGGGTAGCAGGAGGGTAATGGGGAGG GTGCCCTGCAGCAGGAGCAGAGGTGGGGGGGTAGCAGGAGGGTAATGGGG AGGGGGC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	338	0.0030	206	c.191 others(223): Show c.1910+517_1910+518insCTGCAGCAGGAGCAGAGGCGGGGGGGTA GCAGGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGG GGGGTAGTAATGGGGGGGTGCCCTGCAGCAGGAGCAGAGTTGGGGGGTAG CAGGAGGGTAATGGGGAGGGTGCCCTGCAGCAGGAGCAGAGGTGGGGGGG TAGCAGGAGGGTAATGGGGAGGGGGCCC	TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF3IP1_chr2_238315518_238405897	238398194	G G	GCCCTGCA others(199): Show GCCCTGCAGCAGGAGCAGAGGCGGGGTGGTAGCAGGGGGGTAGTAATGGG GAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGTAATGGGGGGGGT GCCCTGCAGCAGGAGCAGAGTTGGGGGGGTAGCAGGAGGGTAATGGGGAG GGTGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGCAGGAGGGTAATGGGG AGGGGGC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	338	0.0030	206	c.191 others(223): Show c.1910+517_1910+518insCTGCAGCAGGAGCAGAGGCGGGGTGGTA GCAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGG GGGTAGTAATGGGGGGGGTGCCCTGCAGCAGGAGCAGAGTTGGGGGGGTA GCAGGAGGGTAATGGGGAGGGTGCCCTGCAGCAGGAGCAGAGGTGGGGGG TAGCAGGAGGGTAATGGGGAGGGGGCCC	TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF3IP3_chr1_209751053_209787310	209780328	T T	TGTTAGGG others(199): Show TGTTAGGGGGGAGGGGGGGATTGGTTGAGGGTGGGGGGGTGTGGTGGGGG TGGGGGTGGGGGGGTGGGGGGGGGGGTTGGGGTGGGGGGGGGGGGGTGGT GGGGTGGGGTGGGGGTGGTTGGTGGGGATGGGTATGGTGGGGTGGTGGGG ATGCGGGGGGGGTGGTGGGGGATTGGTGGGGTGTAGTGGGGGGGTTGGAG TTACTAG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0119 a0001c0004t0003g0119	1	444	0.0023	206	c.131 others(223): Show c.1313-140_1313-139insTAGGGGGGAGGGGGGGATTGGTTGAGGG TGGGGGGGTGTGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGGGGGTTGGG GTGGGGGGGGGGGGGTGGTGGGGTGGGGTGGGGGTGGTTGGTGGGGATGG GTATGGTGGGGTGGTGGGGATGCGGGGGGGGTGGTGGGGGATTGGTGGGG TGTAGTGGGGGGGTTGGAGTTACTAGGT	TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAF6_chr11_36478769_36515272	36507555	G G	GTGTACAC others(199): Show GTGTACACATGTATATACGTATACATGTGTACACATGTGTATACGTATAC ATGTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTAT ACATGTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGT ATACATGTGTACACATGTGTATACGTATACATGTGTACACATGTATGTAT GTGTATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG00438.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0180 a0001c0001t0043g0179 a0001c0001t0002g0180 a0001c0001t0043g0179	2	388	0.0052	206	c.-23 others(223): Show c.-23+2492_-23+2493insTATACACATACATACATGTGTACACATG TATACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACA TGTATACGTATACACATGTGTACACATGTATACGTATACACATGTGTACA CATGTATACGTATACACATGTGTACACATGTATACGTATACACATGTGTA CACATGTATACGTATATACATGTGTACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909288	T T	TTTATATA others(199): Show TTTATATAAAATATAAATATACAAATATTTGTATATTATATATTTATATA AAATATAATATACAAATATTTGTATATTATATTTTATTAAAATATAAATA TACAAATATTTGTATATTATATATTTATATAAAATATAAATATACAAATA TTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTGTATG TTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0009 a0004c0005t0004g0009	3	208	0.0144	206	c.22 others(217): Show c.2298_*2299insTATATAACATACAAATATTTATATATTTATATTT TATATAAATATATAATATACAAATATTTGTATATTTATATTTTATATAAA TATATAATATACAAATATTTGTATATTTATATTTTAATAAAATATAATAT ACAAATATTTGTATATTATATTTTATATAAATATATAATATACAAATATT TGTATATTTATATTTTATATAA	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2120		chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097648	T T	TACATATA others(199): Show TACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATA TACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	334	0.0030	206	c.-48 others(217): Show c.-4868_-4867insGTATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATACACACGCGTGT ATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGT ATATACACACGCGTGTATATGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4842		chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870837	C C	CCACACAC others(199): Show CCACACACACCACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ATACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	338	0.0030	206	c.35 others(225): Show c.35+22105_*35+22106insACACACACCACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCATACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(199): Show ATTTGTGGCTGTGGTATGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTATGTGGTGTGTATGTACAGTGCGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTG TGGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00735.hp2 others(12): Show HG00099.hp1 HG00140.hp1 HG00735.hp2 HG01109.hp2 HG01255.hp2 HG02015.hp2 HG02040.hp1 HG02155.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp2 NA18967.hp2 NA18993.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0057 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0298 a0001c0001t0002g0084 a0001c0001t0002g0141	15	338	0.0444	206	c.36 others(221): Show c.36-806_*36-805insTGTGGCTGTGGTATGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTATGTGGTGTG TATGTACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGT GTGTGTATGTGGAGGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(199): Show ATTTGTGGTTGTGGTACGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTATGTGGTGTGTATGTACAGTGCGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTG TGGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	338	0.0059	206	c.36 others(221): Show c.36-806_*36-805insTGTGGTTGTGGTACGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTATGTGGTGTG TATGTACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGT GTGTGTATGTGGAGGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(199): Show ATTTGTGGTTGTGGTATGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTATGTGGTGTGTATGTACAGTGCGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTG TGGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(80): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18985.hp2 NA18994.hp1 NA18998.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0129 others(80): Show a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0225 a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0001t0001g0280 a0001c0001t0001g0317 a0001c0001t0001g0329 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0185 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0249 a0001c0001t0002g0259 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0327 a0001c0001t0002g0334 a0001c0001t0003g0257 a0001c0001t0003g0292 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0004g0325	83	338	0.2456	206	c.36 others(221): Show c.36-806_*36-805insTGTGGTTGTGGTATGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTATGTGGTGTG TATGTACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGT GTGTGTATGTGGAGGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX2_chrX_8164944_8176267	8169760	C C	CCCTCCCT others(199): Show CCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACC ACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	115	0.0087	206	c.27 others(215): Show c.271_*272insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		183		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466604	T T	TGGGGGGG others(199): Show TGGGGGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGG GAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0007 a0009c0009t0007	a0009c0009t0007g0008 a0009c0009t0007g0008	2	271	0.0074	206	c.22 others(215): Show c.221_*222insGGGGGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		95		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895600	C C	CCCCCCCT others(199): Show CCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0028 a0002c0002t0005g0028	1	274	0.0037	206	c.200 others(223): Show c.2004+695_2004+696insCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(199): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0049 a0003c0005t0001g0049	1	274	0.0037	206	c.200 others(223): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(199): Show CCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCC TCCTCCT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0264 a0002c0002t0008g0264	1	274	0.0037	206	c.200 others(223): Show c.2004+709_2004+710insTCCTCCTCCCCCCCCTCCTCCTCCCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(199): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCC TCCTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	274	0.0037	206	c.200 others(223): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(199): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATCATATATGATACATATATCATATATATGATACATGTATATCATATA TATGATACATATGTATCATATATATGATACATATGTATCATATATATGAT ACATATGTATCATATATATGATACATATGTATCATATATATGATACATAT GTATCAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	340	0.0029	206	c.856 others(223): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATGATACATGTATATCA TATATATGATACATATGTATCATATATATGATACATATGTATCATATATA TGATACATATGTATCATATATATGATACATATGTATCATATATATGATAC ATATGTATCATATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(199): Show CCATGTGTACCTCCAGAGTCCCACACACAGTCATGTACACCTCCAGAGTC CCACACACAGTCATGTGTACTTCCAGAGTCCCACACAGTCAGGTATACCT CCAGAGTCCCACACACAGTCATGTACACCTCCAGAGTCCCACACACAGTC ATGTGTACTTCCAGAGTCCCACACAGTCAGGTATACCTCCAGAGTCCCAC ACACAGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0003 a0001c0035t0003	a0001c0035t0003g0027 a0001c0035t0003g0027	1	342	0.0029	206	c.110 others(223): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGTCAT GTACACCTCCAGAGTCCCACACACAGTCATGTGTACTTCCAGAGTCCCAC ACAGTCAGGTATACCTCCAGAGTCCCACACACAGTCATGTACACCTCCAG AGTCCCACACACAGTCATGTGTACTTCCAGAGTCCCACACAGTCAGGTAT ACCTCCAGAGTCCCACACACAGTCATGT	VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR64_chr1_241647281_241807777	241675055	T T	TCCTCCCT others(199): Show TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTC CTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCC TTCCTGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01978.hp2 NA18942.hp2 HG01952.hp1 HG01978.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0169 a0001c0002t0002g0201 a0001c0002t0002g0288 a0001c0001t0001g0169 a0001c0002t0002g0201 a0001c0002t0002g0288	3	326	0.0092	206	c.483 others(221): Show c.483+309_483+310insCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCTCC CTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCC TCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCC TCCTGCCTCCCTCCCTCCTTCCTGCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR7_chr18_56646359_57034792	57024520	T T	TATCCCTA others(199): Show TATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGT CCCTTATAGGATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATG TGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTC AGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGGAT TTCACAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0090 a0001c0004t0001g0090	1	144	0.0069	206	c.427 others(225): Show c.4270-2450_4270-2449insCTATGATAGTTATGTCCCTTATAGGA TTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGAT AGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATA GGGATATGTGAGCTATGATAGTTATGTCCCTTATAGGATTTCACAAATCC CTATTCTCAGACAGGAATAGGGATATGTGA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(199): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATTATATATATATTATATATATAA TATATATATATTTTATATATATATTATATATATATAGAGAGAGAGAGAGA GAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	330	0.0030	206	c.37 others(217): Show c.3793_*3794insCTCTCTCTCTCTCTCTCTCTCTATATATATATAA TATATATATAAAATATATATATATTATATATATAATATATATATAATATA TATATTATATATATATTATATATATATTATATATATATTATATATATATA TAATATATATATATATTATATATATATAATATATATATTATATATATATA ATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(199): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATTATATATATATTATATATATAA TATATATATATTTTATATATATATTATATATATATATATAGAGAGAGAGA GAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	330	0.0030	206	c.37 others(217): Show c.3793_*3794insCTCTCTCTCTCTCTCTCTATATATATATATATAA TATATATATAAAATATATATATATTATATATATAATATATATATAATATA TATATTATATATATATTATATATATATTATATATATATTATATATATATA TAATATATATATATATTATATATATATAATATATATATTATATATATATA ATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WNK2_chr9_93179139_93325569	93295829	C C	CTCAACTC others(199): Show CTCAACTCACTTTCCTCCTCTCTCCATCCTCCCCTCACCTTCCTCCCCTC TCCATCCTCAACTCACTTTCCTCCTCTCTCCATCCTCCCCTCACCTTCCT CCCCCCACCTTCCTCCCCCACCTTCCTCCCCTCTCTATCCTCCCCTCTCC ATCCTCCCTTCACCTTCCTTGTCTCTCCAGCTTCCCCTCACTTTCCTCCC CTCTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0207 a0001c0035t0001g0207	1	316	0.0032	206	c.570 others(225): Show c.5709-1943_5709-1942insTCCTCCCCTCACCTTCCTCCCCCCAC CTTCCTCCCCCACCTTCCTCCCCTCTCTATCCTCCCCTCTCCATCCTCCC TTCACCTTCCTTGTCTCTCCAGCTTCCCCTCACTTTCCTCCCCTCTCCAT CAACTCACTTTCCTCCTCTCTCCATCCTCCCCTCACCTTCCTCCCCTCTC CATCCTCAACTCACTTTCCTCCTCTCTCCA	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
XRCC2_chr7_152639776_152681141	152674684	A A	AATATATT others(199): Show AATATATTTTAAATATATATAATATATATTTTAAAATATATTTATATATT AATATATTTTTAAATATATATTATATATATTTTAAAATATATTTATATAT AATATATTTTTAAATATATATTATATATAATATATTTTAAAATATATATT ATATATAATATATATTTTAAAATATATTATATAAATATATTTTAAAATAT GTATTAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0194 a0001c0001t0027g0194	1	394	0.0025	206	c.39+ others(221): Show c.39+1356_39+1357insATAATACATATTTTAAAATATATTTATATA ATATATTTTAAAATATATATTATATATAATATATATTTTAAAATATATTA TATATAATATATATTTAAAAATATATTATATATAAATATATTTTAAAATA TATATAATATATATTTAAAAATATATTAATATATAAATATATTTTAAAAT ATATATTATATATATTTAAAATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZC3H12B_chrX_65029826_65512887	65450699	G G	GTATATAT others(199): Show GTATATATGTATACATATGTATATATACATATGTATATATGCATATATAC ATATGTGTATATATATGTATATATGTATACATATGTATATATACATATGT ATATATATGTATATATGCATATATACATATGTATATATATGTATATATGC ATATATACATATGTATATATGCATATGTATACATATGTATATATGCATAT ATACATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	165	0.0061	206	c.-15 others(227): Show c.-156-37946_-156-37945insATATATGTATACATATGTATATAT ACATATGTATATATGCATATATACATATGTGTATATATATGTATATATGT ATACATATGTATATATACATATGTATATATATGTATATATGCATATATAC ATATGTATATATATGTATATATGCATATATACATATGTATATATGCATAT GTATACATATGTATATATGCATATATACATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZMYND8_chr20_47204214_47361699	47225596	A A	AGGAAGGG others(199): Show AGGAAGGGGAAGGGAGGGGAATGAAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAGGAGGGAAAGGGAGGGCAGGGGGGAGGGGA GGGGAGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	208	0.0048	206	c.301 others(225): Show c.3017-1041_3017-1040insCCTCCCCTCCCCTCCCCCCTGCCCTC CCTTTCCCTCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCC TTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCC TTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCC TTCCCCTTCATTCCCCTCCCTTCCCCTTCC	ZMYND8	ENSG00000101040.20	transcript	ENST00000471951.7	protein_coding	18/22			chr20	TogoVar
ZNF253_chr19_19860882_19899674	19891007	A A	ATTTTTTT others(199): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	370	0.0027	206	c.227 others(221): Show c.227-461_227-460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCT ACCACGCCCGGCTAATTTTTTTTTTT	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar

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Search Results (Total: 10000 hits)