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
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(610): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTAGAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	439	0.0023	617	c.-16 others(628): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTAGAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(610): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02273.hp2 HG02056.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0002g0099 a0001c0001t0001g0031 a0001c0001t0002g0099	2	439	0.0046	617	c.-16 others(628): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(610): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	439	0.0023	617	c.-16 others(628): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(610): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0102 a0001c0008t0005g0102	1	439	0.0023	617	c.-16 others(628): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(610): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCC TCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCC CCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGC CTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCC ACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCA CCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCAC CTCCCCCCTCCACACCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTC CACCTCCCCCCTCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	360	0.0056	617	c.35 others(628): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGC CCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCA CGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCT CACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCG CACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTC CCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTC CCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCT TCCACCTCCCCCCTCCACCTCCCCCCTCACCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PIAS4_chr19_4002736_4044386	4011737	T T	TGTGTGGG others(610): Show TGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGCTGTGGGATGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG GTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTG GAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGCTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0217 a0001c0003t0001g0217	1	334	0.0030	617	c.28- others(632): Show c.28-1165_28-1164insTTGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGCTGTGGGATGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGCTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(610): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGG GCGCGGGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGG GCGCCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGC GCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0120 a0003c0009t0120	a0003c0009t0120g0013 a0003c0009t0120g0013	1	210	0.0048	617	c.45+ others(628): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTA GGGGCGGGGTGGGGGCGCGGGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGCGGGGTGGGGGCGCCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGG GGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGG GCGGGTGGGGGCGCGGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137518720	T T	TCACTCAC others(610): Show TCACTCACTCCACTCTACTCACTCCATCCTCACTCACTCACTCCACTCTG CTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCTCAC TCACTCACTCCACCCTATCCACTCCATCCCCCACTCACTCACTCCACTCT GTCCACTCCATCCCCCACTCACTCCCTCCACTCTACTCACTCCATCCCAC ACTCACTCATTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCACT CTGTCCACTCCATCCCCCACTCACGCACTCACTCCACTCTGTCCACTCCA TCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCAC TCCACTCTGTCCACTCCATCCCTCATTCACTCACTCCACTCTGCTCACTC CATCCCCCACTCACTGACTCCACTCTGTCCACTCCATCCCCCACTCACTC ACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCGACTCTGTCCAC TCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACT CACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCACTCTGTCCA CTCCATCCCCCACTCACG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	188	0.0053	617	c.108 others(636): Show c.1084+1196_1084+1197insCGTGAGTGGGGGATGGAGTGGACAGA GTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTGGAGTGAGTGACGG GGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAG AGTCGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGT GGGGGATGGAGTGGACAGAGTGGAGTCAGTGAGTGGGGGATGGAGTGAGC AGAGTGGAGTGAGTGAATGAGGGATGGAGTGGACAGAGTGGAGTGAGTGA GTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGG ACAGAGTGGAGTGAGTGCGTGAGTGGGGGATGGAGTGGACAGAGTGGAGT GAGTGAGTGAGGGATGGAGTGGACAGAGTGGAATGAGTGAGTGTGGGATG GAGTGAGTAGAGTGGAGGGAGTGAGTGGGGGATGGAGTGGACAGAGTGGA GTGAGTGAGTGGGGGATGGAGTGGATAGGGTGGAGTGAGTGAGTGAGGAT GGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGG AGTGAGTGAGTGAGGATGGAGTGAGTAGAGTGGAGTGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPP2R5C_chr14_101756709_101932977	101918523	C C	CTCATCCC others(610): Show CTCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCACCCCTCA GCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCAC CCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCG CTCCTCTCGCCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTC GCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCAC CCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCC CCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCC CCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCT CCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCC CCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCT CGCCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCC TCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGC CTTCCCCCCTCACCCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	138	0.0073	617	c.160 others(634): Show c.1608+604_1608+605insCACCCCTCCCCCCACCCCTCAGCCTTCT CCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCC CCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCT CGCCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCC TCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCACCCCTCAG CCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACC CCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGC TCCTCTCGCCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCG CCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCC CTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCC CCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCC CCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCCCC CCTCACCCCCTTCATCCCCCTCGCTCCTCTCGCCCCCCC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(610): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	252	0.0040	617	c.139 others(636): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(610): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGACGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02572.hp1 others(5): Show HG01243.hp2 HG02109.hp2 HG02572.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03471.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0016 a0002c0002t0035 a0002c0002t0004 a0002c0002t0016 a0002c0002t0035	a0002c0002t0004g0243 a0002c0002t0004g0244 a0002c0002t0004g0245 others(5): Show a0002c0002t0004g0243 a0002c0002t0004g0244 a0002c0002t0004g0245 a0002c0002t0004g0247 a0002c0002t0004g0248 a0002c0002t0004g0249 a0002c0002t0016g0246 a0002c0002t0035g0250	8	252	0.0318	617	c.139 others(636): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGACGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(610): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG02572.hp2 others(9): Show HG00639.hp2 HG02257.hp1 HG02572.hp2 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03453.hp1 NA19240.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0006c0007t0002	a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 others(9): Show a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0006g0023 a0001c0001t0006g0166 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0236 a0001c0001t0011g0237 a0006c0007t0002g0161	12	252	0.0476	617	c.139 others(636): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(610): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCGGACAGGGCGGCTGGCCGGGCAGACGGGCTCCT CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0241 a0002c0002t0004g0241	1	252	0.0040	617	c.139 others(636): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCGGACAGGGCGGCTGGCCGGGCAGACGGGCTCCTCACTTC CCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGG CTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF17_chr13_24759169_24884921	24881816	C C	CTATATAG others(610): Show CTATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATAT ATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATA GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGA TACATCTATATAGATATATATACATCTATATAGATATATAGATACATCTA TATAGATACATCTATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAGATACATCTATATATATAGATACATCTATATATATAGA TACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0155 a0003c0006t0001g0155	1	426	0.0024	617	c.20 others(628): Show c.2090_*2091insTATATAGATGCATCTATATATCTATATAGATGCA TCTATATATCTATATATAGATATATAGATGCATCTATATAGATATATAAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCT ATATAGATATATAGATACATCTATATAGATATATATACATCTATATAGAT ATATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGAT ATATAGATACATCTATATAGATATATAGATACATCTATATATATAGATAC ATCTATATATATAGATACATCTATATAGATATATAGATACATCTATATAG ATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATAT AGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATAC ATCTATATAGATATATAGATACATCTATATAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1896		chr13	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(610): Show GTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATA TTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AATATATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATAT ATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTT ATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	308	0.0033	617	c.-75 others(636): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATATAAAT ATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATAT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATATAAATATATATTTATAAACT AAATATATAAATATATATTTATAAACTAAATATATAAATATATATTTATA AACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATATT TATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATA TATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAA TATATATTTATAAACTAAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	304168	A A	AGGGAGGG others(610): Show AGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTG TCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAA TTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGC TGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGA GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGATG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0063 a0001c0001t0033g0063	1	133	0.0075	617	c.351 others(636): Show c.351+15251_351+15252insCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCA ATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCT GAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTCCCT CCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAA ACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCA CTGCCCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304168	A A	AGGGAGGG others(610): Show AGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTG TCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAA TTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGC TGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGA GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGATG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	133	0.0075	617	c.351 others(636): Show c.351+15251_351+15252insCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CATCTCTTTCCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCA ATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCT GAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCT CCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAA ACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCA CTGCCCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMD11_chr1_918923_949574	934329	G G	GCGTTACA others(610): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCT GCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGT GGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	434	0.0023	617	c.843 others(634): Show c.843-1424_843-1423insGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGG CTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTT ACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGC TCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAG GTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934461	A A	AGGCTGCT others(610): Show AGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	434	0.0023	617	c.843 others(634): Show c.843-1308_843-1307insTGCTCCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGG GGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCT GCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(610): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTC CTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTC ACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACT ATCCCCCCACAAGCATCACTCCAACCCTCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCC CCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCC CACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCC AAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACA AGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCCAC AAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	280	0.0036	617	c.89- others(630): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGGTAGAA TGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAG AGTGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAG GGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGG AGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGGGGAGG GTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGT TGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGA GCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGC TATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(610): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAG GAGGAGGGAGAAAGGAAGGGAGGAGGAGGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0095 a0009c0014t0002g0095	1	350	0.0029	617	c.624 others(632): Show c.624+347_624+348insTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCC TCCTTTCTCTTCTTTTCTCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(610): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp1 NA18986.hp2 others(1): Show HG02572.hp1 HG03516.hp1 NA18986.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0127 a0001c0001t0002g0128 others(1): Show a0001c0001t0002g0078 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0134	4	350	0.0114	617	c.624 others(632): Show c.624+347_624+348insTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(610): Show GAGGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGG GAGGGTGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGG GAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGGGGGAGGCAGGGAGGGA GGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGG GAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGG GAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGA GAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA GAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02895.hp2 others(3): Show HG02615.hp2 HG02622.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03516.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0004 a0002c0002 a0012c0024 a0001c0004 a0002c0002 a0012c0024	a0001c0004t0014 a0001c0004t0019 a0002c0002t0019 others(2): Show a0001c0004t0014 a0001c0004t0019 a0002c0002t0019 a0002c0002t0024 a0012c0024t0029	a0001c0004t0014g0001 a0001c0004t0014g0002 a0001c0004t0019g0102 others(3): Show a0001c0004t0014g0001 a0001c0004t0014g0002 a0001c0004t0019g0102 a0002c0002t0019g0107 a0002c0002t0024g0086 a0012c0024t0029g0076	6	132	0.0455	617	c.227 others(636): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTCCCTCTCCC TCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTC CCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCC TGCCTCCCCCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTG CCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCTCCTTGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(610): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTG GGGGTGGGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCG AGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAG AGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAG CGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCG GGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGG GGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGG TGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTG GGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	364	0.0028	617	c.157 others(636): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCA CCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCCGCTCCCA CCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCC CCGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCC CACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCA CCCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCC ACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTC CCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGT TCTCCCACCCCGTTCTCCCACCCCGCTCTCCCACCCCGCTCCCACCCCCA CCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46859378	C C	CATAGAGG others(610): Show CATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTT TTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCT TTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGA ATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCA GAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGGA CCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGG GACCAGAATCCTTTTTTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG00741.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0102 a0001c0001t0004g0020 a0001c0001t0003g0102 a0001c0001t0004g0020	2	112	0.0179	617	c.638 others(636): Show c.638-19153_638-19152insCGTGCCCCTTCCCGGGACCAGAATCC TTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAG AATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGAC CAGAATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGG GACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCG GGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCC CGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTT CCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82764895	G G	GTGTGCTC others(610): Show GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCT GCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAG TCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACA AGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGG TGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	318	0.0031	617	c.333 others(632): Show c.333+835_333+836insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTA CAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGG TGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGGTGTCTGTGTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGT CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(610): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACA GTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	392	0.0026	617	c.228 others(636): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATG GCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376741	T T	TCTGTGCC others(610): Show TCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTC CCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCC TCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCC ACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	370	0.0027	617	c.-77 others(626): Show c.-772_-771insGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAGG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAGGC ACGGGGGGGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		716		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113543378	C C	CACCTCCT others(610): Show CACCTCCTCCCCGTGCCCCCCGCCCTACCTCTGTCCGGACCCCACCTCCT CCCCCTGCCCCCTGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCGCC CCTACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCACTCTG TCCGTGACCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGT GACCCCCACCTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTCC TCCCCCTGACCCCCTGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCTG TGCCCCACCCTCCCTGTGTGTGACCCCCACCTCCTCCCCCTGCCCCCGCC CTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTG TCCGTGACCACCTCCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGT GACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCT CCTCCCCCTGCCCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCC CTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCCCCCGCC CTCCCTCTGTGGGTGACT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0062 a0003c0002t0002g0062	1	368	0.0027	617	c.169 others(636): Show c.1690+3871_1690+3872insACCTCCTCCCCGTGCCCCCCGCCCTA CCTCTGTCCGGACCCCACCTCCTCCCCCTGCCCCCTGCCCTCCCTGTCCG TGACCACCTCCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCAC CTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTCCTCCCCTTGC CCCCCCGCCCTCCCTCTGTCCGTGACCCCCACCTCCTCTCCCTGCCCCCA CTCTGTCCGTGACCCCCACCTCCTCCCCCTGACCCCCTGCCCTCCCTCTG TCCGTGACCCCCTCCTCCCCCTGTGCCCCACCCTCCCTGTGTGTGACCCC CACCTCCTCCCCCTGCCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCT CCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCTCCCCTTGC CCCCCCGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCCCCACC CTCTCTGTCTGTGACCCCCACCTCCTCCCCCTGCCCCCCGCCCTCCCTCT GTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGAC CACCTCCTCCCCCTGCCCCCGCCCTCCCTCTGTGGGTGACT	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12			chr13	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(610): Show CTCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTAC CCCTCCCCCTTACCCTTCCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCC TCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTC CCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	114	0.0088	617	c.-25 others(636): Show c.-25-12110_-25-12109insCTCTCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCC CCCTCTCCTACCCCTCCCCCTTACCCTTCCCCCTTCCCCCCCTCTGCCCT CCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCC TATCCCCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCTCCCCCTCCCCTCT CCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCTCCC CCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(610): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCTCCTCCTTCTC CTCTCCCTCCTCCTCCCCTCCTCTCCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTCCTCCTCCTCCGCTTCTC TTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCT TCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTC TCCTCCTCCCCTTCCTCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCC TCCATCTTCTCTTTCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCCCTCCT CCTCCTCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTC CTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	384	0.0026	617	c.424 others(634): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCT CCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTCCTCCTCC TCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTC CTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCC TCCCCTCCTCTCCTCCTCCCCTTCCTCTCCTCCCCTTCCTCCTCCTCCCC TTCCTCCTCCTCCATCTTCTCTTTCTCCTCCTCCCCTCCTCTCCCTCCTC CTCCCCTCCTCCTCCTCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCT CCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(610): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATATTATATATACATTATATATATATATTATATATACATTATATATATAT ATTATATATACATTATATATATATATATTATATATACATTATATATATAT ATATTATATATACATTATATATAATATATATATACATTATATATATATAT TATATATACATTATATATATATATTATATATACATTATATATATATATTA TATATACATTATATATATATATTATATATACATTATATATATATATATTA TATATACATTATATATATATATTATATATACATTATATATATATATTATA TATACATTATATATATATATTATATATACATTATATATATATTATATATA CATTATATATATATATTATATATACATTATATATATATTATATATACATT ATATATATTATATATTATATATACATTATATATATTATATATTATATATA CATTATATATTATATATTATATATACATTATATATATCATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	224	0.0045	617	c.102 others(636): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATGATATATATAATGTATATATAATATATAATATATAATGTATATATA ATATATAATATATATAATGTATATATAATATATAATATATATAATGTATA TATAATATATATATAATGTATATATAATATATATATATAATGTATATATA ATATATATATAATGTATATATAATATATATATATAATGTATATATAATAT ATATATATAATGTATATATAATATATATATATAATGTATATATAATATAT ATATATATAATGTATATATAATATATATATATAATGTATATATAATATAT ATATATAATGTATATATAATATATATATATAATGTATATATAATATATAT ATATAATGTATATATATATTATATATAATGTATATATAATATATATATAT ATAATGTATATATAATATATATATATATAATGTATATATAATATATATAT ATAATGTATATATAATATATATATATAATGTATATATAATATATATATAT AATGTATATATAATATATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930556	C C	CTGGGGTT others(610): Show CTGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCTGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCAGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	617	c.50 others(628): Show c.5034_*5035insCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCT AACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGC CTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCT AACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTGACCC CTGGCCTCCCTAACCCCGGCCTTCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4813		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930741	C C	CGGGGTTA others(610): Show CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAAGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAG GCTGGGGTTAGGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	617	c.48 others(628): Show c.4849_*4850insAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC AGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCT AACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAA CCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4628		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(610): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	334	0.0030	617	c.657 others(632): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC TTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(610): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTC CTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAAG ACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCCC ACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATAC CCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACATACCCTCGT AAAGACCCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCG TCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCATCC TGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18980.hp1 NA18951.hp2 NA18980.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0164 a0008c0008t0001g0165 a0008c0008t0001g0164 a0008c0008t0001g0165	2	224	0.0089	617	c.225 others(636): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACG AGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGT ATGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGT GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCT TTAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA TGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTA CGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(610): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCG TCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCATCC TGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0182 a0014c0024t0001g0182	1	224	0.0045	617	c.225 others(636): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACG AGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTT TAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAT GGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTG ATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTA CGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(610): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0235 a0001c0003t0011g0265 a0001c0003t0011g0235 a0001c0003t0011g0265	2	344	0.0058	617	c.218 others(634): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(610): Show GTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATA TTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AATATATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATAT ATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTT ATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0149 a0001c0001t0078g0149	1	250	0.0040	617	c.82+ others(632): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAT ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAA TACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTA TAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WDR7_chr18_56646359_57034792	57024511	G G	GATTTCAC others(610): Show GATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAAT AGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATC CCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCCC TTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCA CATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTA TGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGAT ATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTC TCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGG ATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGAT AGTTATGTCCCTTATAGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	144	0.0069	617	c.427 others(636): Show c.4270-2470_4270-2469insGCAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAAT AGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATC CCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTATGTCCC TTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCA CATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGTTA TGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGAT ATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTC TCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGG ATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGAT AGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(610): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATAAATAATAT ATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	302	0.0033	617	c.-1- others(634): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(611): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTTCCTTTCCTTTCCTTTCCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0010 a0001c0002t0004g0010	1	249	0.0040	618	c.49- others(633): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCCTTTCCTTTCCTTTCCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172068	G G	GGTGGGAT others(611): Show GGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAATGGGTGGGAT GCATAAATGAGTGAGTGGGATGGATAAATGGGTGGGTGGGATGGATAAAT GAGTGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGGGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAG TGGGTGGGATGCATAAATGAGGTGGGATGGATAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGAGGGGGTGGGATGGATGGATA AATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTG GGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGGGGGTGGGAT GGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGAT AAATGGGTGGGTGGGATGGATAAATGAGTGGTTGGGTGGGTGGGATGGAT AAATAAGTGGATGGGATGGATAAATGGGAGGGTGGGATGGATAAATGAGT AGGTGGGATGCATAAATGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG02818.hp2 others(1): Show HG00639.hp2 HG02109.hp1 HG02818.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0049 a0002c0068 a0001c0001 a0001c0049 a0002c0068	a0001c0001t0001 a0001c0049t0001 a0002c0068t0001 a0001c0001t0001 a0001c0049t0001 a0002c0068t0001	a0001c0001t0001g0233 a0001c0001t0001g0305 a0001c0049t0001g0352 others(1): Show a0001c0001t0001g0233 a0001c0001t0001g0305 a0001c0049t0001g0352 a0002c0068t0001g0097	4	357	0.0112	618	c.278 others(637): Show c.2787+1215_2787+1216insTCATTTATGCATCCCACCTACTCATT TATCCATCCCACCCTCCCATTTATCCATCCCATCCACTTATTTATCCATC CCACCCACCCAACCACTCATTTATCCATCCCACCCACCCATTTATCCATC CCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCAC CCCCTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCAT TTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCAT CCATCCCACCCCCTCATTTATCCATCCCACCCACTCATTTATCCATCCCA CCCACTCATTTATCCATCCCACCTCATTTATGCATCCCACCCACTCATTT ATGCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCC CACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACC CATTTATCCATCCCACTCACTCATTTATGCATCCCACCCACTCATTTATC CATCCCACCCACCCATTTATCCATCCCACTCACTCATTTATGCATCCCAC CCATTCATTTATCCATCCCACCCACTCATTTAGCCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(611): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCGCCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCA CCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0014 a0014	a0014c0048 a0014c0048	a0014c0048t0037 a0014c0048t0037	a0014c0048t0037g0127 a0014c0048t0037g0127	1	262	0.0038	618	c.775 others(633): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAGTGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGAT GGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGG TGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATG AGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(611): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATCCACCCATCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATCCACCCACCCATTCATCCATCCACC CACCCATTCATCCATCCACCCATCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCA CCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG03471.hp2 HG02572.hp2 HG03130.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0065 a0004c0019 a0001c0065 a0004c0019	a0001c0065t0016 a0004c0019t0097 a0004c0019t0098 a0001c0065t0016 a0004c0019t0097 a0004c0019t0098	a0001c0065t0016g0079 a0004c0019t0097g0055 a0004c0019t0098g0112 a0001c0065t0016g0079 a0004c0019t0097g0055 a0004c0019t0098g0112	3	262	0.0115	618	c.775 others(633): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGAT GGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGG TGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATG AGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(611): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATTCACCCATCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCA CCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0027 a0027	a0027c0032 a0027c0032	a0027c0032t0027 a0027c0032t0027	a0027c0032t0027g0122 a0027c0032t0027g0122	1	262	0.0038	618	c.775 others(633): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGAATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGAT GGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGG TGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATG AGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(611): Show TACGTATACGTATACACACATATACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACACACATATACACGTA TACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACACACATATACACGTATATACGTATACGTGTACACACATA TATATACACGTATATATACGTATACGTGTACACACACACACGTATATATA CGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACACGTATATACGTATACGTGTACACACACATA CACGTATATACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACA TATACACGTATACGTGTAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0093 a0001c0001t0024g0093	1	169	0.0059	618	c.48- others(635): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTATACACACATATACACGTATACGTATACACACATATACACGTATACGT ATACACACATATACACGTATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATATATACACGTATATATACGTATACGTGTAC ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACACGTATATACGT ATACGTGTACACACACATACACGTATATACGTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACACGTATACGTGTACACACATATAC ACGTATACGTGTACACACATATACACGTATACGTGTACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(611): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATATACATATTTATACATATA TGTATAAATACATATACATATTTATACATATATGTATAAATACATATACA TATTTATACATATATGTATAAATACATATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATACACATATTTATACATATA TGTATAAATACATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0056 a0001c0001t0078g0056	1	256	0.0039	618	c.39 others(627): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATACATATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATACACAT ATTTATACATATATGTATAAATACATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(611): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0025	1	391	0.0026	618	c.36 others(629): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82972591	C C	CAGAAGGA others(611): Show CAGAAGGACCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCC AGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCA CAGCACACCACAGGGGCTAGAAGGACCTGGTGCTGACCACACCACACCAC AGGGGCTAGAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGA CCTGGTGCCGACCACACCACACCACAGGGGATAGAAGGACCCAGTACTGA CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACAC CACAGGGGCTAGAAGGACCTGGTGCTGACCACACCACACCACAGGGGCTA GAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACAGGGGATAGAAGGACCCAGTACTGACCACACCA CACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACACCACAGGGG CTAGAAGGACCTGGTGCTGACCACACCACACCACAGGGGCTAGAAGGACC TGGTGCCGACCACAGCACACCACAGGGGCTAGAAGGACCTGGTGCCGACC ACACCACACCACAGGGGCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	266	0.0038	618	c.460 others(635): Show c.460-6846_460-6845insAGCCCCTGTGGTGTGGTGTGGTCGGCAC CAGGTCCTTCTAGCCCCTGTGGTGTGCTGTGGTCGGCACCAGGTCCTTCT AGCCCCTGTGGTGTGGTGTGGTCAGCACCAGGTCCTTCTAGCCCCTGTGG TGTGCTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGT CAGTACTGGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCGGCACCAGGT CCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTG TGGTGTGGTGTGGTCAGCACCAGGTCCTTCTAGCCCCTGTGGTGTGCTGT GGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTG GGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGG TGTGGTCAGCACCAGGTCCTTCTAGCCCCTGTGGTGTGCTGTGGTCGGCA CCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTC TATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)