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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
SLC9A3_chr5_465456_529449	474212	C C	CGGTCCAG others(395): Show CGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGAG AGGAGCTGCGGAGAGGGGTTAGGCGGGGAGAGAGAGAGAGCGAGCCAGGT TCAGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGG GAGAGGAGCTGCGGAGAGGGGTTAGGCGGGGAGGGAGAGAGAGAACCAGG TTCAGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAG GAGAGGAGCTGCGGAGAGGGGTTAGGCGGGGAGAGAGAGAGAGCGAGCCA GGTTCAGGTCCAGGGAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGG AGGGAGAGGAGCTGCGGAGAGGGGTTAGGCGGGGAGGGAGAGAGCCAGGT TCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0002 a0002c0029t0002	a0002c0029t0002g0108 a0002c0029t0002g0108	1	218	0.0046	402	c.250 others(419): Show c.2501+269_2501+670dupTGAACCTGGCTCTCTCCCTCCCCGCCTA ACCCCTCTCCGCAGCTCCTCTCCCTCCAGGTCTCCGCCTCGCGCGCGCTG TCTCTCTCCTCCCTGGACCTGAACCTGGCTCGCTCTCTCTCTCTCCCCGC CTAACCCCTCTCCGCAGCTCCTCTCCTCCAGGTCTCCGCCTCGCGCGCGC TGTCTCTCTCCTCCCTGGACCTGAACCTGGTTCTCTCTCTCCCTCCCCGC CTAACCCCTCTCCGCAGCTCCTCTCCCTCCAGGTCTCCGCCTCGCGCGCG CTGTCTCTCTCCTCCCTGGACCTGAACCTGGCTCGCTCTCTCTCTCTCCC CGCCTAACCCCTCTCCGCAGCTCCTCTCCTCCAGGTCTCCGCCTCGCGCG CGCTGTCTCTCTCCTCCCTGGACC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(395): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATAATATATATATAAAATATATAT ATATTATATATAAAATATATATATTATATAATATATATATAAAATATATA TATTATATAATATATATATAAAATATATATATTATATAATATATATATAA AATATATATATTATATAATATATGTAATATTATATATAATATATATATTA TATATATTATATATTATATATATTATATATATTATATATAATATATATTA TATATTATATATATTATATATATTATATATAATATATTATATATAATATA TATAATATATATAATATATATATTATATATAATATATATAATATATATAA AAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02683.hp2 HG04199.hp1 others(1): Show HG02132.hp1 HG02683.hp2 HG04199.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0088 others(1): Show a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0007t0002g0148	4	190	0.0211	402	c.151 others(421): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATAATATATATATAAAATATATATAT ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATATATAAAA TATATATATTATATAATATATGTAATATTATATATAATATATATATTATA TATATTATATATTATATATATTATATATATTATATATAATATATATTATA TATTATATATATTATATATATTATATATAATATATTATATATAATATATA TAATATATATAATATATATATTATATATAATATATATAATATATATAAAA AATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNED1_chr2_240993618_241100568	241052694	G G	GTCAAGCA others(395): Show GTCAAGCAGGGTACATGGGACACCAGTGCGAGGCAGGTGAGATGGCCGGG GGGCTGAGCAGGGTACATGGGACACCAGTGCCAGGCAGGTGAGAGGGCCA GGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGATGGCC AGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGC CGGGGGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGAGG GTCAGGGGGGTCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAG ATGGCCAGGGGGCCAAGCAGGGTATATGGGATACCAGTGCCAGGCAGGTG AGAGGGCCAGGGGGCCAAGCAGGGTATATGGGATACCAGTGCCAGGCAGG TGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0131 a0002c0003t0007g0131	1	344	0.0029	402	c.208 others(419): Show c.2083+226_2083+227insTCAAGCAGGGTACATGGGACACCAGTGC GAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATGGGACACCAGT GCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAG TGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCA GTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGACAC CGGTGTCAGGCAGGTGAGAGGGTCAGGGGGGTCAAGCAGGGTACATGGGA TACCAGTGCCAGGCAGGTGAGATGGCCAGGGGGCCAAGCAGGGTATATGG GATACCAGTGCCAGGCAGGTGAGAGGGCCAGGGGGCCAAGCAGGGTATAT GGGATACCAGTGCCAGGCAGGTGA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
SNPH_chr20_1261294_1314327	1301735	C C	CCCATTCC others(395): Show CCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCT ATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTA ATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCA ATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAA CCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTC TATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCT AATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGC AATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAA ACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0121 a0003c0009t0001g0121	1	350	0.0029	402	c.440 others(419): Show c.440+1425_440+1426insACCATTCCCATTAGCAATCACCGCCAAT TTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCAT TAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAA ATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAAT ATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAA TTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCA TTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAA AATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAA TATTTCTATCACCTCAAAATAAAC	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNPH_chr20_1261294_1314327	1301802	C C	CCCATTCC others(395): Show CCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCT ATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTA ATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCA ATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAA CCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTC TATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCT AATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGC AATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAA ACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	350	0.0029	402	c.440 others(419): Show c.440+1451_440+1452insATTTCTAATTTCATCAATATTTCTATCA CCTCAAAATAAACACCATTCCCATTAGCAATCACCGCCAATTTCTAATTT CATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCA CCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCC ATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATC ACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATT TCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATC ACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCC CATTCCCATTAGCAATCACCGCCA	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(395): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0160 a0001c0004t0001g0160	1	356	0.0028	402	c.-11 others(423): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(395): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAAGCG GGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGG GAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAG CGGGAACGGGGGAGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGG AGGGGGAGGGAGGGGGGAGGGGGAAGGGGAGGGGGGAGGGGGAAGGGGGA GGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGGAAGCG GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	251	0.0040	402	c.34 others(411): Show c.349_*350insCCCCGCTTCCCCCCTCCCCCTCCCCCTCCCCATCTC CCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCT CCCCCCTCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATC TCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTC CCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCT TCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCACCTCCCCCTCCCCCTCCC CCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCC CCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
TBC1D22A_chr22_46757650_47180693	46772268	T T	TACACATA others(395): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACACACATATATATGTATACACACACATATATATG TATACACACATACATATATATGTATACACACACATATATATGTATACACA CACATATATATGTATACACACATACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	112	0.0089	402	c.62+ others(417): Show c.62+9421_62+9422insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACATATATATGTATACACACATACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACA	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(395): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACACACATATA TATGTATACACACACATATATATGTATACACACACATATATATGTATACA CACACATATATATGTATACACACACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	112	0.0089	402	c.62+ others(417): Show c.62+9469_62+9470insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACACACATATATATGTATACACACACATATATATGTATACACA CACATATATATGTATACACACACATATATATGTATACACACACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACA	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(395): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATGTATACACACACATATATATGTATACACACACACATATATATGTATA CACACACATATATATGTATACACACATACATATATATGTATACACACACA TATATATGTATACACACACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	112	0.0089	402	c.62+ others(417): Show c.62+9469_62+9470insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATGTATACACACACATATATATGTATACACA CACACATATATATGTATACACACACATATATATGTATACACACATACATA TATATGTATACACACACATATATATGTATACACACACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(395): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACATCATACATAAAACACACTCCACACATCATACACA CCACACACACTCCACACATCGTACACAAAACACACTCCACACATCATACA CAAAACACACTCCACACATCATACACACCACATACACTCCACACATCATA CACACACACTCCACACATCATACACACTCCACACGTCATACACACACACA CACTCCACACATCATACACAATACACACTCCACACATCATACACAATACA CACTCCACACATCATACACACACACTCCACACATCATACACAATACACAC TCCACACATCATACACAAAACACACTCCACACATCATACACACACACTCC ACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0183 a0001c0002t0007g0183	1	378	0.0027	402	c.819 others(419): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATGATGTGTGGA GTGTGTTTTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGGAGTG TGTATTGTGTATGATGTGTGGAGTGTGTGTGTGTGTATGACGTGTGGAGT GTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTATGTGGTG TGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTGTGGAGTGTGTTTTG TGTACGATGTGTGGAGTGTGTGTGGTGTGTATGATGTGTGGAGTGTGTTT TATGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTA TGATGTGTGGAGTGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCF3_chr19_1604292_1657615	1627878	G G	GGGGATGA others(395): Show GGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0081 a0002c0001t0015g0081	1	352	0.0028	402	c.299 others(417): Show c.299-453_299-452insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628013	A A	ACGGGGTG others(395): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA ACT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0069 a0002c0001t0007g0069	1	352	0.0028	402	c.299 others(417): Show c.299-588_299-587insAGTTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628664	A A	ACGGGGTG others(395): Show ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAAC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA ACT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0056 a0002c0001t0019g0056	1	352	0.0028	402	c.299 others(419): Show c.299-1239_299-1238insAGTTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTG CTGTCCCCTTCCCACCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENM2_chr5_166974029_168269157	167427581	G G	GAAGGAAG others(395): Show GAAGGAAGGGAAGGAAGGGACGGGAGGGAAGGAAGGGAAGGAAGAAAGGA CGGAAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGACGGGAAGGAAGGGAA GGAAGGGACGGGAGGGAAGGAAGGGAAGAAGGAAGGACGGAAAGGAAGGG AAGGAAGGGAAGGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGAAGGAA GGAAGGACGGGAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGACGGGAAGG AAGGGAAGGAAGGGAAGGAAGGAAGGACGGGAAGGAAGGGAAGGAAGGGA AGGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGACGGGAGGGAAGGAAG GGAAGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGAC GGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01891.hp2 others(6): Show HG01081.hp1 HG01192.hp1 HG01891.hp2 HG01943.hp1 HG02615.hp1 HG02922.hp1 HG03098.hp2 HG03453.hp2 HG04204.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0001c0023 a0001c0029 a0007c0011	a0001c0001t0006 a0001c0002t0031 a0001c0003t0001 others(6): Show a0001c0001t0006 a0001c0002t0031 a0001c0003t0001 a0001c0005t0024 a0001c0007t0010 a0001c0012t0023 a0001c0023t0008 a0001c0029t0003 a0007c0011t0010	a0001c0001t0006g0001 a0001c0002t0031g0036 a0001c0003t0001g0040 others(6): Show a0001c0001t0006g0001 a0001c0002t0031g0036 a0001c0003t0001g0040 a0001c0005t0024g0009 a0001c0007t0010g0037 a0001c0012t0023g0016 a0001c0023t0008g0004 a0001c0029t0003g0019 a0007c0011t0010g0038	9	54	0.1667	402	c.502 others(421): Show c.502+52180_502+52181insAGGAAGGAAGGACGGGAAGGAAGGGA AGGAAGGGACGGGAGGGAAGGAAGGGAAGAAGGAAGGACGGAAAGGAAGG GAAGGAAGGGAAGGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGAAGGA AGGAAGGACGGGAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGACGGGAAG GAAGGGAAGGAAGGGAAGGAAGGAAGGACGGGAAGGAAGGGAAGGAAGGG AAGGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGACGGGAGGGAAGGAA GGGAAGAAGGAAGGACGGAAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGA CGGAAAGGAAGGGAAGGAAGGGACGGGAGGGAAGGAAGGGAAGGAAGAAA GGACGGAAAGGAAGGGAAGGAAGGGA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(395): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACC ACTCCTACCTTCCTACCTTCCCACCGCTCCCACATTCTCACCTTCCCACC TTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	396	0.0025	402	c.695 others(417): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGT GGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCGGTG GGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGG AGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGG AATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGA AGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAA GGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(395): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACC ACTCCTACCTTCCTACCTTCCCACCGCTCCCACATTCTCACCTTCCCACC TTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	396	0.0025	402	c.695 others(417): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGT GGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCGGTA GGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGG AGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGG AATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGA AGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAA GGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(395): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	434	0.0023	402	c.-27 others(413): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCTGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGG TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCTCCCG GACGGGGTGGCTGGCCAGGCGGGGGGCTGACCCCCACACCTCCCTCCCGG ACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMEM132D_chr12_129066726_129909025	129088536	C C	CGGGTGTC others(395): Show CGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGGCGTCCTCTATG ACCGGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGTGTCCTCC ATGACCGGGGTGTCCTCTATGACCGGGGTGTCCTCCATGACCGGGTGTCC TCTATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGTGTC CTCTATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTG TCCTCCCTGACCGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGA TGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGG GGTGTCCTCCATGACCGGGGTGTCCTCCCTGACCGGGGTGTCCTCCCTGA CCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG04204.hp1 HG00099.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0021 a0001c0001t0002g0038	2	94	0.0213	402	c.144 others(421): Show c.1444-3835_1444-3834insCGGTCAGGGAGGACACCCCGGTCAGG GAGGACACCCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCGGTC ATGGAGGACACCCGGTCAGGGAGGACATCCCGGTCATGGAGGACACCCGG TCATAGAGGACACCCGGTCAGGGAGGACACCCGGTCATAGAGGACACCCG GTCATGGAGGACACCCCGGTCATAGAGGACACCCGGTCAGGGAGGACACC CGGTCATAGAGGACACCCGGTCATAGAGGACACCCGGTCATGGAGGACAC CCCGGTCATAGAGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGA CGCCCCGGTCATGGAGGACGCCCCGGTCATAGAGGACGCCCCGGTCATGG AGGACACCCGGTCATAGAGGACACCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM178B_chr7_141069064_141485380	141337084	C C	CACCACCA others(395): Show CACCACCACCATCACCACCACCACCATCATCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCAGCATCACCACCATCACCACCACCACCACCAC CATCACCACCAGCATCACCACCATCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACGACCACCACCATCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCATCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCCCCACCACCA TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCATC ACT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0075 a0001c0002t0037g0075	1	80	0.0125	402	c.497 others(423): Show c.497-100524_497-100523insACCACCACCATCACCACCACCACC ATCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCAGCATCA CCACCATCACCACCACCACCACCACCATCACCACCAGCATCACCACCATC ACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAT CACCACCACGACCACCACCATCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCCCCACCACCATCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCATCACT	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3			chr7	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(395): Show CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCACGACCACCACCAGCATCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACC ACCACCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACGA CCACCACCAGCATCACCACCATCACCACCATCACCACCACCACCACCATC ACT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	80	0.0125	402	c.497 others(423): Show c.497-100451_497-100450insCCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCAC CACGACCACCACCAGCATCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCAGCATCACCACCATCACCACCACCACCACCACCATCACCACCAG CATCACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACGACCACCACCAGCATCACCACCATCACC ACCATCACCACCACCACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM202_chr15_72393305_72413367	72396895	T T	TGGGGGAG others(395): Show TGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCAGGAGGGA GGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG01168.hp1 others(31): Show HG00408.hp1 HG00544.hp1 HG01168.hp1 HG02040.hp1 HG02071.hp2 HG02129.hp2 HG03491.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp1 NA18965.hp1 NA18974.hp2 NA18978.hp2 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp2 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0020 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028	34	396	0.0859	402	c.-14 others(413): Show c.-1432_-1431insGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCATCCAGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1409		chr15	TogoVar
TMEM202_chr15_72393305_72413367	72396895	T T	TGGGGGAG others(395): Show TGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA19088.hp2 HG02630.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0001 a0001c0001t0001g0046	2	396	0.0051	402	c.-14 others(413): Show c.-1432_-1431insGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1409		chr15	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(395): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATTATACATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATACATTATATA TAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	224	0.0045	402	c.102 others(421): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATATATAATATATATAATGTATATATAATATATAATATATATAATGT ATATATAATATATAATATATATAATGTATATATAATATATAATATATATA ATGTATATATAATGTATAATATATATAATGTATATATAATGTATATATAT ATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(395): Show TTATATATAAAAATTATATATATATTATATATATATAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA18980.hp1 HG04228.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	272	0.0074	402	c.28 others(413): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA TAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TSNARE1_chr8_142207080_142408182	142390709	A A	ACAGACGC others(395): Show ACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACACTGCT GGGGACTCCGTAACAGACGCTGTACACTGCGGGGACTCCGTAACAGACGC TGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCTGGGGACTC CGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACAC TGCGGGGGACTCCGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACA GACGCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCAGGG GACTCCGTAACAGACGCTGTACACTGCAGGGGACTCCGTAGCAGACGCTG TACACTGCTGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGGACTCCG TAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0091 a0004c0004t0002g0091	1	238	0.0042	402	c.-40 others(421): Show c.-40+12394_-40+12395insCTACGGAGTCCCCCGCAGTGTACAGC GTCTGCTACGGAGTCCCCAGCAGTGTACAGCGTCTGCTACGGAGTCCCCT GCAGTGTACAGCGTCTGTTACGGAGTCCCCTGCAGTGTACAGCGTCTGTT ACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCCGCAGTGT ACAGCGTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGTTACGGAGT CCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAGCGT CTGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCGCA GTGTACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACG GAGTCCCCCGCAGTGTACAGCGTCTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(395): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCT CTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCT TTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp2 HG02622.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0125 a0001c0002t0002g0126	2	334	0.0060	402	c.657 others(417): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
VAT1L_chr16_77783564_77985107	77806456	A A	GCCTCGGC others(395): Show GCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCA GCCAAGTTTTTTGTATTTTTAGTAGAGACAGGTTTCACCATGTTAGCCAG CATGGTCTCGATTTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAA GTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAAGTTTTTTGTAT TTTTAGTAGAGACAGGTTTCACCATGTTAGCCAGCATGGTCTCGATTTCC TGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGG CGTGAGCCACCACGCCCAGCCAAGTTTTTTGTATTTTTAGTAGAGACAGG TTTCACCATGTTAGCCAGCATGGTCTCGATTTCCTGACCTCGTGATCTGC CCA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0243 a0001c0002t0004g0243	1	342	0.0029	402	c.234 others(421): Show c.234-10466_234-10465insGCCTCGGCCTCCCAAAGTGTTGGGAT TACAGGCGTGAGCCACCACGCCCAGCCAAGTTTTTTGTATTTTTAGTAGA GACAGGTTTCACCATGTTAGCCAGCATGGTCTCGATTTCCTGACCTCGTG ATCTGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCAC CACGCCCAGCCAAGTTTTTTGTATTTTTAGTAGAGACAGGTTTCACCATG TTAGCCAGCATGGTCTCGATTTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAAGTT TTTTGTATTTTTAGTAGAGACAGGTTTCACCATGTTAGCCAGCATGGTCT CGATTTCCTGACCTCGTGATCTGCCC	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8			chr16	TogoVar
VCX2_chrX_8164944_8176267	8169829	T T	TCCCTCCC others(395): Show TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACA CACCTCCTCTTCCTCCCTCCCTCCCCACACACTTCTTCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTC CCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCCACACACCACCTCTT CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0011 a0005c0006t0002g0011	1	115	0.0087	402	c.20 others(411): Show c.202_*203insGGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAAGTGTGTGGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		114		chrX	TogoVar
WDR81_chr17_1719704_1743585	1739225	G G	GCCTGATG others(395): Show GCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCA GGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02723.hp1 others(4): Show HG02055.hp1 HG02486.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0009 a0001c0027 a0001c0009 a0001c0027	a0001c0009t0004 a0001c0027t0004 a0001c0009t0004 a0001c0027t0004	a0001c0009t0004g0010 a0001c0009t0004g0017 a0001c0027t0004g0017 a0001c0009t0004g0010 a0001c0009t0004g0017 a0001c0027t0004g0017	7	431	0.0162	402	c.15 others(413): Show c.1540_*1541insCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGA	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		641		chr17	TogoVar
ZFPM1_chr16_88448280_88542031	88461004	G G	GGACCGAG others(395): Show GGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGC CCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGA GGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAG GGGCGGGAGGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAG GACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGAC CTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGTGGGGC GGGAGGCCTGGTGATGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACC CAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGT GAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0051 a0006c0011t0051	a0006c0011t0051g0185 a0006c0011t0051g0185	1	318	0.0031	402	c.40+ others(417): Show c.40+7484_40+7485insGCCTGGTGATGACCGAGGGGTGGGGCGGGA GGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGATG GGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCG AGGGGTGGGGCGGGAGGCCTGGTGATGACCGAGGGGAGGGGCGGGAGGCC TGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCG GGAGGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCG AGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGA CCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCT GGTGAGGACCGAGGGGCGGGAG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88461053	C C	CCTGGTGA others(395): Show CCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGG AGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTG ATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCG GGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGG GCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCA GGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGA GGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGG TGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGG AGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19066.hp1 NA19011.hp1 NA19066.hp1	a0002 a0040 a0002 a0040	a0002c0002 a0040c0054 a0002c0002 a0040c0054	a0002c0002t0001 a0040c0054t0001 a0002c0002t0001 a0040c0054t0001	a0002c0002t0001g0117 a0040c0054t0001g0088 a0002c0002t0001g0117 a0040c0054t0001g0088	2	318	0.0063	402	c.40+ others(417): Show c.40+7376_40+7377insTGGTGAGGACCGAGGGGTGGGGCGGGAGGC CTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGC GGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGA GGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGC CCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGA GGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAG GGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACC CAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGG ACCCAGGGATGGGGCGGGAGAC	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABR_chr17_998519_1184981	1118627	C C	CCCAGCGT others(396): Show CCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCT GAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGC ATTATCCCTGAGCCTGAGTCCTCCCAGCGTTAACCCTGAGCCTGAGTTCC TCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCC TGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCA GCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGT TCCT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18967.hp2 NA18947.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0319 a0001c0001t0010g0321 a0001c0001t0004g0319 a0001c0001t0010g0321	2	337	0.0059	403	c.246 others(420): Show c.246+6555_246+6556insAGGAACTCAGGCTCAGGGATAACGCTGG GAGGAACTCAGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGAT AACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGC TCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGA ACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGC TGGGAGGACTCAGGCTCAGGGATAATGCTGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGG CTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAG GACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACTN2_chr1_236681499_236769631	236713593	T T	TCTGTGTG others(396): Show TCTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGAC TGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCT CACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGA CTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTG AAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGT ATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTC CTCA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03710.hp2 HG03492.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0003 a0001c0016t0003 a0001c0001t0003 a0001c0016t0003	a0001c0001t0003g0104 a0001c0016t0003g0108 a0001c0001t0003g0104 a0001c0016t0003g0108	2	344	0.0058	403	c.127 others(420): Show c.127-3905_127-3904insACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATAC ACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCAC TGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTG ATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTATGTATACACAGATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236714890	T T	TACCACTG others(396): Show TACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAG ATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	344	0.0029	403	c.127 others(420): Show c.127-2793_127-2792insCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGC AAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATA ACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTG TTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCT TCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATAT GCAAGAGACTGATAGCTTCATTCCT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(396): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	188	0.0053	403	c.-1- others(418): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
AGMO_chr7_15195317_15567015	15529637	T T	TATATAGT others(396): Show TATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCT ATATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAG TATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACA GAATATATATACTATATATATTCTATATACAGAATATATATAGTATATAT ATTCTATATACAGAATATATATACTATATATATTCTATATACAGAATATA TATACTATATATTCTATATACTATATATTCTATATATACTATAGATATAC TATATATAGTATATCTATATATAGATATATAGATATACTATATTCTATAT ACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATA TAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0004 a0016c0022t0004	a0016c0022t0004g0020 a0016c0022t0004g0020	1	236	0.0042	403	c.409 others(422): Show c.409+15134_409+15135insTCTATATACAGAATATATATAGTATA TATATTCTATATACAGAATATATATAGTATATAGAATATAGTATATCTAT ATATCTATATATAGATATACTATATATAGTATATCTATAGTATATATAGA ATATATAGTATATAGAATATATAGTATATATATTCTGTATATAGAATATA TATAGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATATATAT TCTGTATATAGAATATATATACTATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(396): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGG GGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGG GGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0287 a0001c0001t0021g0287	1	301	0.0033	403	c.125 others(424): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCT CCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCC TCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTC CTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCCTCCTC CCCCCCTCCTCCCCCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTC CCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTC CTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTC ACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(396): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC TGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCT GTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0321 a0001c0021t0002g0321	1	363	0.0028	403	c.-48 others(418): Show c.-48+997_-48+998insCGCACCCCACCTGTCCCTCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTC ACCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTG TCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACA CCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCC CCCCGCACCCCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(396): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATTCATATATATCATATATGATATATATGAATATATATATC ATATATGATATATATGAATATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATG ATATATATCATATATGATATATATGAATATATATCATATATGATATATAT GAATATATATATCATATATGATATATATGAATATATATATCATATATGAT ATATATATTCATATATATCATATATGATATATATGAATATATATATCATA TATG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0181 a0002c0001t0002g0181	1	356	0.0028	403	c.924 others(420): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT TCATATATATCATATATGATATATATCATATATATCATATATGATATATA TGAATATATATATCATATATGATATATATGAATATATATATCATATATGA TATATATATTCATATATATCATATATGATATATATATTCATATATATCAT ATATGATATATATGAATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(396): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	292	0.0034	403	c.207 others(424): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(396): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCTCCACCCCGCAGCCCCGTCCAGGGCCCCGACGCGTGCGGCCTCCACCC CGCAGCCCCGTCCAGGCCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	391	0.0026	403	c.36 others(414): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGGCCCCGACGC GTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(396): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0034 a0003c0003t0001g0034	1	328	0.0031	403	c.100 others(422): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(396): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATATAA TTATATATTTTTATATATATAATTATATATATAATTTTATATATATATAA TTATATATAATTATATATATATAATTATATATATTATATATATAATTATA TATATATATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATAATTATATATATATAAAATTATATATATAATTTTATATAT AAAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATAATTATATATATATAATTTTATATATATAATTATATATATATAATT TTATATATATATAATTATATATAATTTTATATATATAATAATTATATATA TAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	330	0.0030	403	c.907 others(418): Show c.907+283_907+284insATTATATATATAATTATTATATATATAAAA TTATATATAATTATATATATATAAAATTATATATATATAATTATATATAT AAAATTATATATATATAATTATATATATAAAATTATATATATAATTATAT ATATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTT ATATATATATAATTATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATATATATATATAATTATATATATAATATATATAA TTATATATATATAATTATATATAATTATATATATATAAAATTATATATAT AATTATATATATAAAAATATATAATTATATATATATAATTATATATATAT AATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(396): Show CCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG TCGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	410	0.0024	403	c.-22 others(420): Show c.-22-1979_-22-1978insTCGTCTCCCCCACGTCGCCTCCCCCCAC GTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGTCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(396): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0025 a0025	a0025c0019 a0025c0019	a0025c0019t0001 a0025c0019t0001	a0025c0019t0001g0008 a0025c0019t0001g0008	1	252	0.0040	403	c.-29 others(414): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC63_chr12_110841987_110912535	110866944	G G	GGGGCTGA others(396): Show GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACCTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCC TCCCGGAGGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG TGGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	288	0.0035	403	c.370 others(420): Show c.370-6868_370-6466dupGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACCTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCAGACG GGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAG GGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGC TGACCCCCCCACCTCCCTCCCGGAC	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(396): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTTTATATAAAATATATATTATATTATATATAATATATATTATATAAAA TATATATTATATTATATATAATATATATTATATAAAATATATATTATATT ATATATAATATATATTATATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTTTATAAAATATATATTATATTATATAATATATATTTTA TAAAATATATATTATATTATATATAATATATATTATATAAAATATATATT ATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	288	0.0035	403	c.154 others(422): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTTTATATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT ATTATATATAATATATATTATATAAAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATAATATATATTATATAAAATATATATTATATTA TATATAATATATATTTTATAAAATATATATTATATTATATAATATATATT TTATAAAATATATATTATATTATATATAATATATATTATATAAAATATAT ATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD247_chr1_167425640_167523529	167435069	C C	CTCCTCCG others(396): Show CTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCC TCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCC TCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCT CCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTC CGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTC CAGCCCTTCCTCCAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCA GCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	374	0.0027	403	c.336 others(418): Show c.336+329_336+330insCGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGG AGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGA GGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGA GGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAG GAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGG AGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGA AGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAG GGCTGGAGGAGGGCTCCGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(396): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCC CTCT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	256	0.0039	403	c.-45 others(424): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)