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
SNX9_chr6_157818246_157950077	157827377	A A	AACATGTA others(513): Show AACATGTATTATAGTTTATATAATATATAAACATGTATTATAGTTTATAT AATATATAAACATGTATTATAGTTTATATAATATATAAACATGTATTATA GTTTATATAATATATAAACATGTATTATAGTTTATATAATATATAAACAT GTATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	302	0.0033	520	c.12+ others(535): Show c.12+3935_12+3936insGTATTATAGTTTATATAATATATAAACATG TATTATAGTTTATATAATATATAAACATGTATTATAGTTTATATAATATA TAAACATGTATTATAGTTTATATAATATATAAACATGTATTATAGTTTAT ATAATATATAAACATGTATTATAGTTTATATAATATATAAAATATATTAT AGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(513): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGG GAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGG AGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAG AGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0062 a0006c0019t0001g0062	1	256	0.0039	520	c.22 others(531): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAG GGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGG GAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGG GGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGA GGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAA GGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
TBC1D22A_chr22_46757650_47180693	46772220	T T	TACACATA others(513): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACACACATATATATGTATACACACACATATATATGTATA CACACATACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACATACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	112	0.0089	520	c.62+ others(535): Show c.62+9373_62+9374insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACACACATATATATGTATACA CACACATATATATGTATACACACATACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACATACATATATATGTATACACACATACA TATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772316	T T	TACACATA others(513): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACACACATATATATGTATACACACACATATATATGTATA CACACATACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACATACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	112	0.0089	520	c.62+ others(535): Show c.62+9469_62+9470insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACACACATATATATGTATACA CACACATATATATGTATACACACATACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACATACATATATATGTATACACACATACA TATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273007	A A	ACATCAGA others(513): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACC ACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	392	0.0026	520	c.228 others(537): Show c.2287-728_2287-727insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377417	C C	CTCTGTGC others(513): Show CTCTGTGCCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTC TCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCA CCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCG TGCCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCC CCCCGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCTCTGTGCCTCCACCCAGCCTCTCCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCCTCTGTGCCTCCACCCAGCCTCTCCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	370	0.0027	520	c.-14 others(531): Show c.-1448_-1447insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGG AGAGGCTGGGTGGAGGCACAGAGGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGGAGAGGCTGGGTGGAGGCACAGAGGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGG GTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGG AGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACGGGG GGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGG GGCACGGGGGGGGGAGAGGCTGGGTGGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1392		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129088031	G G	GGGCGTCC others(513): Show GGGCGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTA TGACCGGGTGTCCTCCATGACCGGACGTCCTCCATGACCGGGCGTCCTCC ATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCC TCCATGACCGGGCGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGT CCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGT GTCCTCTATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGG GTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACC GGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGA CCGGGTGTCCTCTATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCAT GACCGGGTGTCCTCCCTGACC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	94	0.0106	520	c.144 others(539): Show c.1444-3330_1444-3329insGGTCAGGGAGGACACCCGGTCATGGA GGACACCCGGTCATGGAGGACACCCCGGTCATAGAGGACACCCGGTCAGG GAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCA TAGAGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCGGT CATAGAGGACACCCCGGTCATGGAGGACACCCGGTCATAGAGGACACCCG GTCATAGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACACC CGGTCATGGAGGACACCCCGGTCATGGAGGACGCCCGGTCATGGAGGACA CCCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCGGTCATGGAGG ACGCCCGGTCATGGAGGACGTCCGGTCATGGAGGACACCCGGTCATAGAG GACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCCGGTCATG GAGGACACCCGGTCATGGAGGACATCCCGGTCATGGAGGACGCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(513): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18964.hp2 NA19079.hp1 others(2): Show HG02040.hp2 NA18964.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0006 a0002c0009t0006 a0002c0003t0006 a0002c0009t0006	a0002c0003t0006g0234 a0002c0003t0006g0235 a0002c0003t0006g0236 others(2): Show a0002c0003t0006g0234 a0002c0003t0006g0235 a0002c0003t0006g0236 a0002c0003t0006g0240 a0002c0009t0006g0135	5	382	0.0131	520	c.728 others(535): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TNS1_chr2_217794791_218007995	217809316	C C	CATGGATG others(513): Show CATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATAGGTGCATGGATGGATGCATGGATGGATGCATGGATGGATGGA TGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATG GATGGATGGATGCATGGATGGATGGATAGGTGCATGGATGGATGGATGGA TGGATGGATGGATGGATAGGTGCATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGCA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATG GATGGATGGATGCATGGATGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0004 a0004	a0004c0086 a0004c0086	a0004c0086t0001 a0004c0086t0001	a0004c0086t0001g0083 a0004c0086t0001g0083	1	244	0.0041	520	c.527 others(537): Show c.5273+506_5273+507insCCATCCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCACCTATCCATCCATCCATCCATCCATCC ATCCATCCATGCACCTATCCATCCATCCATGCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATCCATCCATGCATCCATCCATGCACCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCC ATCCATCCATGCATCCATCCATGCACCTATCCATCCATCCATCCATCCAT CCATCCATGCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TNS3_chr7_47270154_47587111	47363030	T T	TCACCATC others(513): Show TCACCATCATCATCATCATCACCATTACCACTATCAAGATCATTACCACC ATCAACATCATCACCATCATCACAGTCATCACCATCATCAGGGTCATCAC CATCACCATCATCATCACCATTACCACTATCAAGATCATTACCACCATCA ACATCATCACCATCATCACAGTCATCACCATCATCAGGGTCATCACCACC ATCACCATGACCATCATCACCATCAACATCATCACCACCTTCAACATCAT CACCATCATCATTGTCACCATCACCATCACCAAACAATCATGACCATCAT TATCATCACCATCATCACCATCATCTCTGTCATCATCACCATCACCATCA TCACCATCACCACTGTCATCACACCATCACCACCATCAACATCATCACAG TCATTATCACCATCATCAGGGTCATCACCATCAACATCAGCACCACCATC ACCATCATCACCATCATCCCAGTCATCACCATCATCGCTGTCATCATCAC CATCACCATCATCACTATCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(121): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0007 a0010 a0012 a0013 a0014 a0015 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0003 others(40): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0028 a0001c0030 a0001c0038 a0001c0039 a0001c0049 a0001c0050 a0001c0054 a0001c0055 a0001c0057 a0001c0058 a0002c0029 a0003c0020 a0003c0052 a0003c0053 a0003c0060 a0005c0017 a0005c0033 a0007c0043 a0007c0062 a0010c0059 a0012c0026 a0013c0042 a0014c0032 a0015c0031 a0017c0041 a0018c0040 a0019c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(86): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0048 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0013 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0010 a0001c0003t0012 a0001c0003t0022 a0001c0003t0035 a0001c0003t0036 a0001c0003t0043 a0001c0003t0050 a0001c0003t0060 a0001c0004t0007 a0001c0004t0049 a0001c0005t0002 a0001c0005t0021 a0001c0005t0051 a0001c0006t0002 a0001c0006t0005 a0001c0007t0002 a0001c0007t0006 a0001c0007t0019 a0001c0007t0027 a0001c0009t0006 a0001c0009t0015 a0001c0009t0039 a0001c0009t0058 a0001c0010t0001 a0001c0010t0004 a0001c0013t0029 a0001c0013t0038 a0001c0015t0025 a0001c0016t0026 a0001c0018t0008 a0001c0018t0023 a0001c0019t0017 a0001c0021t0005 a0001c0021t0052 a0001c0022t0007 a0001c0028t0005 a0001c0030t0004 a0001c0038t0016 a0001c0039t0031 a0001c0049t0001 a0001c0050t0010 a0001c0054t0001 a0001c0055t0002 a0001c0057t0002 a0001c0058t0001 a0002c0029t0002 a0003c0020t0019 a0003c0020t0047 a0003c0052t0045 a0003c0053t0001 a0003c0060t0020 a0005c0017t0005 a0005c0017t0040 a0005c0033t0018 a0007c0043t0044 a0007c0062t0010 a0010c0059t0009 a0012c0026t0014 a0013c0042t0005 a0014c0032t0006 a0015c0031t0010 a0017c0041t0001 a0018c0040t0003 a0019c0025t0001	a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0003g0003 others(121): Show a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0003g0191 a0001c0001t0005g0017 a0001c0001t0005g0118 a0001c0001t0005g0143 a0001c0001t0005g0179 a0001c0001t0006g0132 a0001c0001t0006g0151 a0001c0001t0008g0077 a0001c0001t0008g0104 a0001c0001t0008g0163 a0001c0001t0009g0047 a0001c0001t0009g0082 a0001c0001t0015g0169 a0001c0001t0016g0130 a0001c0001t0024g0059 a0001c0001t0028g0133 a0001c0001t0029g0011 a0001c0001t0030g0113 a0001c0001t0030g0124 a0001c0001t0032g0083 a0001c0001t0033g0037 a0001c0001t0048g0183 a0001c0002t0002g0008 a0001c0002t0003g0108 a0001c0002t0008g0076 a0001c0002t0013g0086 a0001c0002t0013g0093 a0001c0002t0023g0062 a0001c0002t0024g0064 a0001c0002t0025g0029 a0001c0003t0001g0028 a0001c0003t0001g0042 a0001c0003t0001g0057 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0003t0004g0065 a0001c0003t0004g0066 a0001c0003t0004g0123 a0001c0003t0007g0053 a0001c0003t0007g0148 a0001c0003t0007g0181 a0001c0003t0007g0187 a0001c0003t0010g0193 a0001c0003t0012g0015 a0001c0003t0012g0192 a0001c0003t0022g0166 a0001c0003t0035g0031 a0001c0003t0036g0084 a0001c0003t0043g0004 a0001c0003t0050g0180 a0001c0003t0060g0195 a0001c0004t0007g0186 a0001c0004t0049g0075 a0001c0005t0002g0095 a0001c0005t0002g0097 a0001c0005t0021g0043 a0001c0005t0021g0046 a0001c0005t0051g0115 a0001c0006t0002g0054 a0001c0006t0002g0090 a0001c0006t0002g0155 a0001c0006t0005g0138 a0001c0006t0005g0153 a0001c0007t0002g0139 a0001c0007t0006g0127 a0001c0007t0019g0010 a0001c0007t0027g0012 a0001c0009t0006g0129 a0001c0009t0015g0116 a0001c0009t0039g0045 a0001c0009t0058g0114 a0001c0010t0001g0039 a0001c0010t0001g0063 a0001c0010t0004g0013 a0001c0013t0029g0190 a0001c0013t0038g0074 a0001c0015t0025g0176 a0001c0016t0026g0002 a0001c0018t0008g0085 a0001c0018t0023g0027 a0001c0019t0017g0023 a0001c0019t0017g0024 a0001c0021t0005g0052 a0001c0021t0052g0105 a0001c0022t0007g0158 a0001c0028t0005g0119 a0001c0030t0004g0137 a0001c0038t0016g0021 a0001c0039t0031g0189 a0001c0049t0001g0026 a0001c0050t0010g0019 a0001c0054t0001g0128 a0001c0055t0002g0156 a0001c0057t0002g0078 a0001c0058t0001g0120 a0002c0029t0002g0014 a0003c0020t0019g0188 a0003c0020t0047g0173 a0003c0052t0045g0080 a0003c0053t0001g0034 a0003c0060t0020g0073 a0005c0017t0005g0134 a0005c0017t0040g0154 a0005c0033t0018g0157 a0007c0043t0044g0030 a0007c0062t0010g0032 a0010c0059t0009g0068 a0012c0026t0014g0067 a0013c0042t0005g0164 a0014c0032t0006g0103 a0015c0031t0010g0070 a0017c0041t0001g0016 a0018c0040t0003g0056 a0019c0025t0001g0144	124	196	0.6327	520	c.228 others(539): Show c.2281+5334_2281+5335insGTGATAGTGATGATGGTGATGGTGAT GATGACAGCGATGATGGTGATGACTGGGATGATGGTGATGATGGTGATGG TGGTGCTGATGTTGATGGTGATGACCCTGATGATGGTGATAATGACTGTG ATGATGTTGATGGTGGTGATGGTGTGATGACAGTGGTGATGGTGATGATG GTGATGGTGATGATGACAGAGATGATGGTGATGATGGTGATGATAATGAT GGTCATGATTGTTTGGTGATGGTGATGGTGACAATGATGATGGTGATGAT GTTGAAGGTGGTGATGATGTTGATGGTGATGATGGTCATGGTGATGGTGG TGATGACCCTGATGATGGTGATGACTGTGATGATGGTGATGATGTTGATG GTGGTAATGATCTTGATAGTGGTAATGGTGATGATGATGGTGATGGTGAT GACCCTGATGATGGTGATGACTGTGATGATGGTGATGATGTTGATGGTGG TAATGATCTTGATAGTGGTAATGGTGATGATGATGATGATGGTG	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	17/30			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507519	A A	ATATACAT others(513): Show ATATACATGTATATATACATGTATATATGTATATATACGTGTATCTACAT GTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTATAC ATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTAT ACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGT ATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATAC GTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATAT ACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTAT ATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATGT ATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACAT GTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACAC ATGTATGTATGTGTATATATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0260 a0001c0001t0033g0260	1	388	0.0026	520	c.-23 others(537): Show c.-23+2528_-23+2529insCATATATACACATACATACATGTGTACA CATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTA CACATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTG TACACATGTATACGTATATACATGTGTACACATGTATACGTATATACATG TGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATACA TGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATA CATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATA TACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTA TATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACG TATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTAGA TACACGTATATATACATATATACATGTATATATACATGTATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(513): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATAAAAATTATATATAT TATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATTATATATATATAAAAATTATATATAT TATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG01346.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	272	0.0074	520	c.28 others(531): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT AAAAATTATATATATTATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATTATATATATAT AAAAATTATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(513): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATACATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATAATATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	272	0.0037	520	c.29 others(531): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATACATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATAATATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(513): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATAATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	272	0.0037	520	c.29 others(531): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATAATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(513): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATAATATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18977.hp2 NA18980.hp1 others(2): Show HG03942.hp2 NA18977.hp2 NA18980.hp1 NA19002.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0066 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0066	5	272	0.0184	520	c.29 others(531): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATAATATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRPM2_chr21_44348621_44447644	44435911	C C	CTCCACTC others(513): Show CTCCACTCCTATCCACGGGGACACAGCCCCACACTCACCCCTCAGACTCA CTCTCCACTCCTATCCACGGGGACACAGCCCCACACTCACCCCTCAGACT CACTCTCCACTCCTATCCACGGGGACACAGCCCCACACTCACCCCTCAGA CTCACTCTCCACTCCTATCCACGGGGACACAGCCCCACACTCACCCCTCA GACTCACTCTCCACTCCTATCCACGGGGACACAGCCCCACACTCACCCCT CAGACTCACTCTCCACTCCTATCCACGGGGACACAGCCCCACACTCACCC CTCAGACTCACTCTCCACTCCTATCCACGGGGACACAGCCCCACACTCAC CCCTCAGACTCACTCTCCACTCCTATCCACGGGGACACAGCCCCACACTC ACCCCTCAGACTCACTCTCCACTCCTATCCACGGGGACACAACCCCACAC TCTCTCCTCAGACTCACTCCTCCACACCCATCCACAGGGACACAGCCCCA CACTCACCCCTCAGACTCACT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0012 a0001c0006t0001g0012	1	44	0.0227	520	c.406 others(537): Show c.4061+694_4061+695insTCCACTCCTATCCACGGGGACACAGCCC CACACTCACCCCTCAGACTCACTCTCCACTCCTATCCACGGGGACACAGC CCCACACTCACCCCTCAGACTCACTCTCCACTCCTATCCACGGGGACACA GCCCCACACTCACCCCTCAGACTCACTCTCCACTCCTATCCACGGGGACA CAGCCCCACACTCACCCCTCAGACTCACTCTCCACTCCTATCCACGGGGA CACAGCCCCACACTCACCCCTCAGACTCACTCTCCACTCCTATCCACGGG GACACAGCCCCACACTCACCCCTCAGACTCACTCTCCACTCCTATCCACG GGGACACAGCCCCACACTCACCCCTCAGACTCACTCTCCACTCCTATCCA CGGGGACACAGCCCCACACTCACCCCTCAGACTCACTCTCCACTCCTATC CACGGGGACACAACCCCACACTCTCTCCTCAGACTCACTCCTCCACACCC ATCCACAGGGACACAGCCCCACACTCACCCCTCAGACTCACT	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	28/31			chr21	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(513): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCC CCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCC CTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCC CCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTT CCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01346.hp1 HG01952.hp2 others(1): Show HG01123.hp1 HG01346.hp1 HG01952.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0017 a0001c0001t0001g0091 a0001c0001t0001g0092	4	334	0.0120	520	c.657 others(535): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTC CCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTT CTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCC TCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCC TTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCT CCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870239	C C	CCCTACAC others(513): Show CCCTACACACCCCACACACACCACACACCACACACACCCCACACACACCA CACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCATACACACCACACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCCCACACAC CACACACCCCACACACACCACACCCCACACACACCACACACACACCACAC CCCACACACACCACACACCCCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	338	0.0030	520	c.35 others(539): Show c.35+21506_*35+21507insCCTACACACCCCACACACACCACACA CCACACACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCCCACACACCACACACCCCACACACACCACACCCCA CACACACCACACACACACCACACCCCACACACACCACACACCCCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530454	A A	ATTATTAT others(513): Show ATTATTATATATAATAATATAATATATATTATTATATATTATTATATGTT ATTATATATAATAATATAATATATATTATATGTTATTATATATAATAATA TAATATATATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATAATATATATTATTATGTTATTATATATAATAATATATATTA TTATATGTTATTATATATAATAATATATATTATTATATGTTATTATATAT AATAATATAATATATATTATATGTTATTATATATAATATAATATATATTA TATGTTATTATATATAATATAATATATATTATTATATGTTATTATATATA ATATAATATATATTATTATATGTTATTATATATAATATAATATATATTAT TATATGTTATTATATATAATATAATATATATTATATGTTATTATATATAA TATAATATATATTATTATGTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0060 a0002c0003t0015g0060	1	238	0.0042	520	c.392 others(537): Show c.392+6264_392+6265insAACATAATAATATATATTATATTATATA TAATAACATATAATATATATTATATTATATATAATAACATATAATAATAT ATATTATATTATATATAATAACATATAATAATATATATTATATTATATAT AATAACATATAATAATATATATTATATTATATATAATAACATATAATATA TATTATATTATATATAATAACATATAATATATATTATATTATTATATATA ATAACATATAATAATATATATTATTATATATAATAACATATAATAATATA TATTATTATATATAATAACATAATAATATATATTATATTATTATATATAA TAACATATAATAATATATATTATATTATTATATATAATAACATATAATAA TATATATTATATTATTATATATAATAACATATAATATATATTATATTATT ATATATAATAACATATAATATATATTATATTATTATATATAATAACATAT AATAATATATAATAATATATATTATATTATTATATATAATAA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
VCX_chrX_7838171_7849143	7844254	A A	AGGGAGGA others(513): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0001 a0001c0009t0001g0001	1	341	0.0029	520	c.23 others(529): Show c.238_*239insGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGAGGAAGCGGTGGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGAGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		112		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(513): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	408	0.0025	520	c.53+ others(535): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(513): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATACATATGTA TATATGTATATATGTATAAATATACATATGTATATATATGTATATATGTA TACATATGTATATATACATATGTATATATATGTATATATGTATACATATG TATATATACATATGTATATATATGTATACATATGCATATATACATATGTA TATATATGTATATATGTATACATATGTATATATGCATATATATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	165	0.0061	520	c.-15 others(541): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATACAT ATGTATATATGTATATATGTATAAATATACATATGTATATATATGTATAT ATGTATACATATGTATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATACATATGTATATATATGTATACATATGCATATATACAT ATGTATATATATGTATATATGTATACATATGTATATATGCATATATATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(513): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATACATC ATATACATCACATATATGATATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATATCATATATATCACATAT ATGATATATATATCATATATCACATATATGATATATATATCATATATCAC ATATATGATATATATATCATATATATCATATGATATATATCATATATATC ACATATATGATATATATCACATGTGATATATAGCATATATATCATGCTAT ACATCATATATGATATATATGATATATATCACGTATGCTATATAGCATAT GTGATATATATGATATATATCACATATGCTATATAGCATATGTGATATAT ATGATATATATCACATATGCTATATAGCATATGTGATATATATGATATAT ATCACATATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	350	0.0029	520	c.-36 others(531): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATACATCATATACATCACATATATGATATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATATC ATATATATCACATATATGATATATATATCATATATCACATATATGATATA TATATCATATATCACATATATGATATATATATCATATATATCATATGATA TATATCATATATATCACATATATGATATATATCACATGTGATATATAGCA TATATATCATGCTATACATCATATATGATATATATGATATATATCACGTA TGCTATATAGCATATGTGATATATATGATATATATCACATATGCTATATA GCATATGTGATATATATGATATATATCACATATGCTATATAGCATATGTG ATATATATGATATATATCACATATGCTATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZSCAN22_chr19_58321994_58347332	58326569	G G	GCCTCACA others(513): Show GCCTCACACAGCCGCCCTCACCCTCAGACCCTCAAACAGGCACCCTCACC CTCACACAGGCACCCTCACCCTCAGACCCTCAAACAGGCACCCTCACCCT CAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGCCCTC ACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACA CAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAG GCACCCTCAGCTCTCACACAGGCACCCTCAGCCTCACACAGCCGCCCTCA CCCTCAGACCCTCAAACAGGCACCCTCACCCTCACCCCTCACACAAACAC CCTCAGCCCTCCCAAAGCCACCCTCAGCCTCACACAGCCGCCCTCACCCT CAGCCCTCAAACAGCCGCCCTCACCCTCACACAGCCACCCTCACCCTCAG ACCCTCAAACAGGCACCCTCACCCTCAGCCCTCACACAGCCAACCCCATC CCTCACACAGGCACCCTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02723.hp2 others(4): Show HG02451.hp1 HG02572.hp1 HG02723.hp2 HG02897.hp2 HG03209.hp1 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0032 others(1): Show a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0032 a0001c0001t0010g0004	7	400	0.0175	520	c.-59 others(529): Show c.-597_-596insCCTCACACAGCCGCCCTCACCCTCAGACCCTCAAAC AGGCACCCTCACCCTCACACAGGCACCCTCACCCTCAGACCCTCAAACAG GCACCCTCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGC ACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACC CTCAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCT CAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCTCAC ACAGCCGCCCTCACCCTCAGACCCTCAAACAGGCACCCTCACCCTCACCC CTCACACAAACACCCTCAGCCCTCCCAAAGCCACCCTCAGCCTCACACAG CCGCCCTCACCCTCAGCCCTCAAACAGCCGCCCTCACCCTCACACAGCCA CCCTCACCCTCAGACCCTCAAACAGGCACCCTCACCCTCAGCCCTCACAC AGCCAACCCCATCCCTCACACAGGCACCCTCAGC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		424		chr19	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(514): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTT CTTTTCTTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0141 a0001c0003t0025g0141	1	249	0.0040	521	c.49- others(536): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(514): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGC CCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCC AACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCGCC CCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCA CCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAG TCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACC CAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01099.hp2 others(6): Show HG00140.hp2 HG00738.hp1 HG01099.hp2 HG02135.hp1 HG02738.hp2 HG03017.hp1 HG03516.hp2 HG03831.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0079 a0001c0002t0053	a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0126 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0126 a0001c0001t0004g0268 a0001c0001t0005g0266 a0001c0001t0006g0055 a0001c0001t0019g0057 a0001c0001t0079g0267 a0001c0002t0053g0070	9	337	0.0267	521	c.61+ others(536): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGG GTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGT GATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGT GGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGG ACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ANXA2_chr15_60342151_60402986	60349841	A A	AGGGAGGC others(514): Show AGGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGA AGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAG GGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAG GGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAG GGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAG GCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGG GAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG AGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGG AGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGC AGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGA AGGCAGGGAGGGAGGGGAAGGC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0285	1	334	0.0030	521	c.838 others(536): Show c.838-645_838-644insGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(514): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	184	0.0054	521	c.784 others(536): Show c.784-574_784-573insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(514): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	184	0.0054	521	c.784 others(536): Show c.784-574_784-573insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGG AGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(514): Show CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACACATACAGACACAACCACACCACACACACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACACA CACTCACATACAGACACAACCACACCACACACACACACACACATACAGAC ACAACCACACCACACTCACACACACACACACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACACACACA CACACACAGACACAACCACACCACACACACACCCAACCACACCACACTCA CACACACACACACACTCACATACAGACACAACCACACCACACACACACAT ACACACATACAGACACAACCACACCACACTCACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACACAACCACACCACACTCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0099 a0003c0003t0003g0099	1	460	0.0022	521	c.193 others(538): Show c.1938+509_1938+510insTCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACACACATACAGACACAACCACACC ACACACACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACTCACATACAGACACAACCACACCACACACAC ACACACACATACAGACACAACCACACCACACTCACACACACACACACAGA CACAACCACACCACACTCACACACACACACACTCACATACAGACACAACC ACACCACACACACACACACACACAGACACAACCACACCACACACACACCC AACCACACCACACTCACACACACACACACACTCACATACAGACACAACCA CACCACACACACACATACACACATACAGACACAACCACACCACACTCACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(514): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGTGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGG GTATGGGTGGGGCTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGG TGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	284	0.0035	521	c.712 others(538): Show c.712-2416_712-2415insCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC TCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCC CCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TGCCCCGT others(514): Show TGCCCCGTCCCCTCCCCGGCCTCCCTCCCTGCCCACACTCCCCCCTCGCC CGGACAGCCCTTCCTCCGTCCCCCCCTTCTCCCCCTCCTCCTCCCCCTAC TCTCCCTCCCCCTCCCTCTTCCTCCTTCTTCCCTCCTCCCTTCCCCCTTC CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCC CTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCT CCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTC CCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCT TCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	521	c.69 others(532): Show c.6926_*6927insGCCCCGTCCCCTCCCCGGCCTCCCTCCCTGCCCA CACTCCCCCCTCGCCCGGACAGCCCTTCCTCCGTCCCCCCCTTCTCCCCC TCCTCCTCCCCCTACTCTCCCTCCCCCTCCCTCTTCCTCCTTCTTCCCTC CTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCC TCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(514): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCT CCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTC CCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCT TCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0015 a0002c0001t0002g0015	1	354	0.0028	521	c.69 others(532): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCC TCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(514): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGGTGTGTG TATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTG AGTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTG TATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGA GTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGT GTGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGT GAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGT GAGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGT GTGTGTGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19030.hp2 HG02145.hp1 NA19030.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0004 a0002c0023t0001 a0002c0023t0004	a0002c0023t0001g0286 a0002c0023t0004g0030 a0002c0023t0001g0286 a0002c0023t0004g0030	2	336	0.0060	521	c.341 others(538): Show c.3418+378_3418+379insTCACACTCCCATACACACACACACTCAC TCCCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCC ATACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCC ATACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCAT ACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCAT ACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCC CATACACACACTCACTCCCATACACCCATACACACATCCATACTCACACT CCCATACACACACTCCCATACACACACACCCATACACAGTCATACACACA CCCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATACT CACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCC CATACACTCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(514): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAAGGGGGC AGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0137 a0004c0005t0001g0137	1	344	0.0029	521	c.85- others(538): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCC TTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTG CCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DGKD_chr2_233349494_233477098	233397135	A A	ACCAGAGG others(514): Show ACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCC AGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGA GGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGG GACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGAC CAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGGGGGGGGGGGGGTGCCAGAGTGAGAGGACTCCAGAGGGGAC CAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGG TGGCTGGGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGG CTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTG CGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGG GGGGGGCCAGAGCGAGAGGACT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	336	0.0030	521	c.348 others(538): Show c.348+6689_348+6690insCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCT GCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCG GGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGG GGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGG GGGGGTGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGA GGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGC CAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAG AGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGC GAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAG AGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	556134	T T	TCCACAGC others(514): Show TCCACAGCCGGATCCCAGGACGGCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCC ACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCG GATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACG GCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCAC CCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAG CCGGATCCTAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGG ACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACC CACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCAC AGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCA GGACGGCACCCACCCACCCCTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	88	0.0114	521	c.86- others(538): Show c.86-69605_86-69604insGAGGGGTGGGTGGGTGCCGTCCTGGGAT CCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTAGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGT GGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCT GGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGG GTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCCGTCCTGGGATC CGGCTGTGGGAGGGGTGGGTGCCGTCCTGGGATCCGGCTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1521634	A A	ATCTGGTT others(514): Show ATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGAT ATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGGGCA GGTGATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACT CAGGCAGCAGGTGATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATT TGGAATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTTGCACACTTGT TTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTTGCA CACTTGTTTTAATTTGGAATACTCAGGCGGCAGGTGATATGGGGCGTCTC TGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATG GGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGGGCAGCT GATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGG GCAGCAGGTGATATGGGGCGTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	521	c.172 others(540): Show c.172+20303_172+20304insGTGATATGGGGCGTCTCTGGTTTGCA CACTTGTTTTAATTTGGAATACTCAGGCAGCAGGTGATATGGGGCGTCTC TGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATG GGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGG TGATATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCAGG CGGCAGGTGATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGA ATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTTGCACACTTGTTTTA ATTTGGAATACTCGGGGGCAGCTGATATGGGGCGTCTCTGGTTTGCACAC TTGTTTTAATTTGGAATACTCGGGCAGCAGGTGATATGGGGCGTCTCTGG TTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGG CATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGGGCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCACCTCC others(514): Show CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTC CACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCA CCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCATCACCACCACCTCCACCATCACCAC CTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCA ACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCACCACC ACCACCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01981.hp2 HG01099.hp2 HG01981.hp2	a0004 a0006 a0004 a0006	a0004c0043 a0006c0010 a0004c0043 a0006c0010	a0004c0043t0001 a0006c0010t0001 a0004c0043t0001 a0006c0010t0001	a0004c0043t0001g0245 a0006c0010t0001g0183 a0004c0043t0001g0245 a0006c0010t0001g0183	2	256	0.0078	521	c.323 others(540): Show c.3234+1214_3234+1215insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACC ACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCAC CATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCATCA CCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCCACC ACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACATC CACCACCACCATCACCACCACCACCACCACCTCCTCCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716289	T T	TGGGGGAG others(514): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCGTGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02738.hp1 HG01192.hp2 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0116 a0001c0005t0001g0117 a0001c0005t0001g0116 a0001c0005t0001g0117	2	170	0.0118	521	c.86- others(534): Show c.86-321_86-320insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCGTGGGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315777	A A	ACCATCAC others(514): Show ACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCA TCCCCATCCACAGCCCCTACCACCATCCTCACCACCATCCCCATACACAC CCCCTACCACCATCCTCACCACCATCCCCATACACACCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATACACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCATCC TCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCC CATACACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCC TACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TACACACCCCCTACCACCATCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	250	0.0040	521	c.259 others(540): Show c.259+22239_259+22240insGGATGGTGGTAGGGGGTGTGTATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGAGGAT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATG GTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGT GTATGGGGATGGTGGTGAGGATGGTGGTAGGGGCTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(514): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATAAATATAT AAATATATAAATATATAAATATAAATATATAAAAATATATAAATATATAA AAATATATAAATATATAAATATATATAAATATATATAAATATATAAATAT ATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAAAT ACATAAATATATAAATATATAAATATATAAATATATAAATATATATAAGT ACATATAAATATATATACATAAATATATAAATATATAAATATATAAATAT ATAAATACATAATATATATAAATATAAAATATATATAATATATAAAATAT ATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAATAT ATAAAAAATATATACACATATAAATATATATAAAAATATATAAATATATA TAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	344	0.0029	521	c.617 others(538): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATA TTTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTT TTATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTT TATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTT ATATATTTATATATTTATATATTTATGTATATATATTTATATGTACTTAT ATATATTTATATATTTATATATTTATATATTTATATATTTATGTATTTAT ATATTTTTATATATTTATATATTTATATATTTATATATATTTATATATTT ATATATTTATATATATTTATATATATTTATATATTTATATATTTTTATAT ATTTATATATTTTTATATATTTATATTTATATATTTATATATTTATATAT TTATATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTA TTTATATATTTATATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FOXP1_chr3_70949708_71588728	71435799	G G	GGAAGGGA others(514): Show GGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA AGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA AGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGG AGGAAGGGACGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0008 a0001c0001t0077g0008	1	96	0.0104	521	c.-16 others(542): Show c.-168+57626_-168+57627insTTCCCTCCCTCCGTCCCTTCCTCC CCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCG TCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTC CCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCG TCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTC CCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCG TCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTC CCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCG TCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTC CCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCG TCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(514): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	188	0.0053	521	c.109 others(540): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116190	A A	AATATAAT others(514): Show AATATAATTATATATATTATATATATAATATAATTATATATATTATATAT ATAATATAATTATATATATTATATATATAATATAATTATATATATTATAT ATATAATATAATTATATATATTATATATATAATATAATTATATATATTAT ATATATAATATAATTATATATATTATATATATAATATAATTATATATATT ATATATATAATATAATTATATATATTATATATATAATATAATTATATATA TTATATATATAATATAATTATATATATTTATATTATATATATTATATATA ATATAATTATATATATTTATATTATATATATATTATATTATATATAATTA TATATAATTATATATATATTATATTATATATAATTATATATAATTATATA TATATTATATTATATATAATTATATATAATTATATTATATATATTATATG TAATATAATTATATATATTTATATTATATATTATATATAATATAATTATA TATATAATTATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0050 a0001c0001t0026g0050	1	404	0.0025	521	c.384 others(538): Show c.384-4702_384-4701insATATATATATTATAATTATATATATAAT TATATTATATATAATATATAATATAAATATATATAATTATATTACATATA ATATATATAATATAATTATATATAATTATATATAATATAATATATATATA ATTATATATAATTATATATAATATAATATATATATAATTATATATAATTA TATATAATATAATATATATATAATATAAATATATATAATTATATTATATA TAATATATATAATATAAATATATATAATTATATTATATATATAATATATA TAATTATATTATATATATAATATATATAATTATATTATATATATAATATA TATAATTATATTATATATATAATATATATAATTATATTATATATATAATA TATATAATTATATTATATATATAATATATATAATTATATTATATATATAA TATATATAATTATATTATATATATAATATATATAATTATATTATATATAT AATATATATAATTATATTATATATATAATATATATAATTATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(514): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGG GCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGA GGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0080 a0001c0003t0002g0081 a0001c0003t0001g0080 a0001c0003t0002g0081	2	204	0.0098	521	c.978 others(538): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAAC GGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(514): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCC TCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTC TCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCC TATCCCCCTCCCCCTCCCCCTCCCCCATCCCCTCCCCCTCCCCCCTATCC CCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCT CCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTC TCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTC TCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0041 a0004c0014t0001g0041	1	158	0.0063	521	c.11 others(542): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCC CCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCC CCTCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCATCCCCTCCCCCTCCC CCCTATCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTT CCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTC CCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CCCACACA others(514): Show CCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCCAT CCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	380	0.0026	521	c.507 others(538): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGAT GGGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTG TGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(514): Show CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCATC TCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18950.hp2 NA19007.hp1 HG02056.hp2 NA18950.hp2 NA19007.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0218 a0001c0001t0001g0279 a0006c0006t0001g0257 a0001c0001t0001g0218 a0001c0001t0001g0279 a0006c0006t0001g0257	3	380	0.0079	521	c.507 others(538): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGATGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGG GATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LHPP_chr10_124456823_124619141	124471609	A A	ATTTATAT others(514): Show ATTTATATATATATATTTATATATATTTATATATATATTTTTATATATAT TTATATATATTTTTATATATAGTTATATATATTTATATATAGTTATATAT ATTTATGTATAGTTATATATAGTTATGTATAGTTATATATAGTTATATAT ATAGTTATATATAGTTATATATATAGTTATATATATATTTTTATATATAT TTATATATATATATTTTTATATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATAAAT ATATATATAAATATATATATTTATATATATATTTATATATTTATATATGT ATTTATATATATTTATATATGTATTTATATATATTTATATATATTTATAT GTATTTATATATATTTATATATATTTATATATATAAATATAAATATATTT ATATATATAAATATAAATATATTTATATATAAATATATTTATATATATTT ATATAAATATATTTATGTATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01981.hp2 HG01074.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0253 a0001c0001t0001g0217 a0001c0001t0001g0253	2	260	0.0077	521	c.125 others(538): Show c.125+9624_125+9625insTATATATATATATTTATATATATTTATA TATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATA TTTATATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATA GTTATATATAGTTATATATATAGTTATATATAGTTATATATATAGTTATA TATATATTTTTATATATATTTATATATATATATTTTTATATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATAAATATATATATAAATATATATATTTATATATATA TTTATATATTTATATATGTATTTATATATATTTATATATGTATTTATATA TATTTATATATATTTATATGTATTTATATATATTTATATATATTTATATA TATAAATATAAATATATTTATATATATAAATATAAATATATTTATATATA AATATATTTATATATATTTATATAAATATATTTATGTATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)