Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VCX3B_chrX_8459830_8471510	8467125	G G	GGGGAGGG others(617): Show GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAGAGGTGTGTGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGAGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAAGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0042 a0001c0001t0019g0042	1	271	0.0037	624	c.74 others(633): Show c.742_*743insGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAGAGGTGTGTGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGAGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAAGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		616		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGACAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	408	0.0025	624	c.53+ others(639): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGACAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0144 a0001c0001t0001g0145	2	408	0.0049	624	c.53+ others(639): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	408	0.0025	624	c.53+ others(639): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(617): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT GCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0136 a0001c0002t0004g0136	1	326	0.0031	624	c.483 others(639): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTCCCTCCCTCC TCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
XG_chrX_2747040_2821500	2773790	A A	AGAAGGAA others(617): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAA GGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0008 a0001c0002t0008g0008	1	322	0.0031	624	c.104 others(639): Show c.104-864_104-863insGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAG GAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZMYND11_chr10_130455_259637	197194	C C	CGTGTGTG others(617): Show CGTGTGTGCCCACGTGCGCATTGTGTTCATGTATGTGTATCAATACATAC GCATGGAAGGTGGAGTGCTTTTAGTTCACGTGTGTGCCCACGTGCGCATT GTATTCATGTATGTGTATCAATACATACGCATGGAAGGTGGAGTGCTTTT AGTTCACGTGTGTGCCCACGTGCGCAATGTGTTCATGTATGTGTATCAAT ACATACGCATGGAAGGTGGCGTGCTTTTAGTTCACGTGTGTGCCCACGTG CACATTGTATTCATGTATGTGTATCAATACATACGCGTGGAAAGTGGAGT GCTTTTAGTTCACGTGTGTGCCCACGTGCGCATTGTGTTCATGTATGTGT ATCAATACATACGCATGGAAGGTGGAGTGCTTTTAGTTCACGTGTGTGCC CACGTGCGCATTGTATTCATGTATGTGTATCAATACATACGCATGGAAGG TGGAGTGCTTTTAGTTCACGTGTGTGCCCACGTGCGCAATGTGTTCATGT ATGTGTATCAATACATACGCATGGAAGGTGGCGTGCTTTTAGTTCACGTG TGTGCCCACGTGCACATTGTATTCATGTATGTGTATCAATACATACGCAT GGAAAGTGGAGTGCTTTTAGTTCAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04115.hp2 HG03654.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0053 a0001c0001t0001g0059	2	342	0.0059	624	c.117 others(643): Show c.117-12618_117-12617insCGTGTGTGCCCACGTGCGCATTGTAT TCATGTATGTGTATCAATACATACGCATGGAAGGTGGAGTGCTTTTAGTT CACGTGTGTGCCCACGTGCGCAATGTGTTCATGTATGTGTATCAATACAT ACGCATGGAAGGTGGCGTGCTTTTAGTTCACGTGTGTGCCCACGTGCACA TTGTATTCATGTATGTGTATCAATACATACGCGTGGAAAGTGGAGTGCTT TTAGTTCACGTGTGTGCCCACGTGCGCATTGTGTTCATGTATGTGTATCA ATACATACGCATGGAAGGTGGAGTGCTTTTAGTTCACGTGTGTGCCCACG TGCGCATTGTATTCATGTATGTGTATCAATACATACGCATGGAAGGTGGA GTGCTTTTAGTTCACGTGTGTGCCCACGTGCGCAATGTGTTCATGTATGT GTATCAATACATACGCATGGAAGGTGGCGTGCTTTTAGTTCACGTGTGTG CCCACGTGCACATTGTATTCATGTATGTGTATCAATACATACGCATGGAA AGTGGAGTGCTTTTAGTTCATGTGTGTGCCCACGTGCGCATTGTGTTCAT GTATGTGTATCAATACATACGCATGGAAGGTGGAGTGCTTTTAGTTCA	ZMYND11	ENSG00000015171.21	transcript	ENST00000381604.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(617): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCT TCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCTCCTCCTCCCTCCCCTCCC CCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCTCCCTCC CCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCCT CCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCC TTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCT CCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTC TCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCC CTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGT CCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	322	0.0031	624	c.4-1 others(637): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCTCCTCCTC CCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACC CTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTC CCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTC TTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCT TCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTC CCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(617): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCC CCCTCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTC CCCGTCCCCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCCC TTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCT CCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTC TCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCC CTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGT CCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG02818.hp2 others(1): Show HG01884.hp1 HG02717.hp2 HG02818.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091	4	322	0.0124	624	c.4-1 others(637): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCC TCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCT CCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCT CCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCC CTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCT TCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTC CCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATAATA others(617): Show GTATAATATACATGTATATATATACAAGTATATATATACTTGTATATATA TATACAAGTATATATATACTTGTATACATATATACTATATATATACATAT ATACACATATATACGTATATATATGTATATATACATATATACGTGTATAT ACGTATATACATGTATATACGTATATATACACATATATACATGTATATAT ACGTATATATACACATATATACGTGTATATATACGTATATATACACATAT ATACGTGTATATATACATGTATATATACACATATATACATGTATATATAT ACGTATATATACATGTATATATACGTACGTATATATACATGTATATATAC GTACGTATATATATACGTATATATACACATATATACATATATACGTATAT ATATATACGTATATATACATATATACGTGTATATATACGTATATATACAT ATATACGTATATATATACGTATATATACATATATACGTATATATATATAC GTATATATACATATATACATGTATATATATATACGTATATATACATATAT ACATGTATATATATACGTATATACACATATATATACATGTATATATATGT GTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	383	0.0026	624	c.-42 others(635): Show c.-4232_-4231insTATAATATACATGTATATATATACAAGTATATAT ATACTTGTATATATATATACAAGTATATATATACTTGTATACATATATAC TATATATATACATATATACACATATATACGTATATATATGTATATATACA TATATACGTGTATATACGTATATACATGTATATACGTATATATACACATA TATACATGTATATATACGTATATATACACATATATACGTGTATATATACG TATATATACACATATATACGTGTATATATACATGTATATATACACATATA TACATGTATATATATACGTATATATACATGTATATATACGTACGTATATA TACATGTATATATACGTACGTATATATATACGTATATATACACATATATA CATATATACGTATATATATATACGTATATATACATATATACGTGTATATA TACGTATATATACATATATACGTATATATATACGTATATATACATATATA CGTATATATATATACGTATATATACATATATACATGTATATATATATACG TATATATACATATATACATGTATATATATACGTATATACACATATATATA CATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(618): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	625	c.-10 others(636): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATATGATATATAAATATAAATTTTTATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATTTAT GATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTAT ATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(618): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTTTCTTCCCCTTCCCCT CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCCT TCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCA CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT CCCTTCCCTTCCTTCTTTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0040 a0040	a0040c0037 a0040c0037	a0040c0037t0050 a0040c0037t0050	a0040c0037t0050g0088 a0040c0037t0050g0088	1	262	0.0038	625	c.106 others(644): Show c.1061+3845_1061+3846insGGGAAGGAAAAGAAGGAAGGGAAGGG AGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG TGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGG GAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGG AGGGGAAGGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAG GGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGA AGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ARSF_chrX_3036471_3117727	3037096	A A	ATTATATA others(618): Show ATTATATATAAAATATATATAATATATATATTATATATATTATATATAAA ATATATATAATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAT TATATATAAAATTTATATATAAAATATATATAATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATCATATATATAATATATATATTATATATA AAATATATATCATATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	193	0.0052	625	c.-45 others(636): Show c.-4596_-4595insTTATATATAAAATATATATAATATATATATTATA TATATTATATATAAAATATATATAATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATAATATA TATATTATATATAAAATATATATAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATAAAATTTATATATAAAATATATATAATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATCATATATATAATA TATATATTATATATAAAATATATATCATATATATAATATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4374		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037096	A A	ATTATATA others(618): Show ATTATATATAAAATATATATAATATATATATTATATATATTATATATAAA ATATATATAATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAT TATATATAAAATTTATATATAAAATATATATAATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATCATATATATAATATATATATTATATATA AAATATATATCATATATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0228 a0001c0007t0002g0228	1	248	0.0040	625	c.37 others(636): Show c.3711_*3712insTTATATATAAAATATATATAATATATATATTATA TATATTATATATAAAATATATATAATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATAATATA TATATTATATATAAAATATATATAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATAAAATTTATATATAAAATATATATAATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATCATATATATAATA TATATATTATATATAAAATATATATCATATATATAATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2986		chrX	TogoVar
ATP9B_chr18_79064394_79383283	79172543	C C	CCCAAGGT others(618): Show CCCAAGGTGCTGTGATTACAGGCGTGAGCCACCGTGCGCCGACCTTGCGA TCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCC CCGCCCTTCCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGTGT GAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTG TGATTACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCC TCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCGCCGACCTTGCGA TCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCC CCGCCCTTCCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGT GAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTG TGATTACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCC TCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCGCCCTTGCGA TCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCC CCGCCCTTGCGATCCGCCTTGGCCTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG04204.hp1 HG02109.hp2 HG04204.hp1	a0001 a0001	a0001c0038 a0001c0039 a0001c0038 a0001c0039	a0001c0038t0001 a0001c0039t0002 a0001c0038t0001 a0001c0039t0002	a0001c0038t0001g0265 a0001c0039t0002g0266 a0001c0038t0001g0265 a0001c0039t0002g0266	2	298	0.0067	625	c.779 others(642): Show c.779-4246_779-4245insGAGCCACCGTGCGCCGACCTTGCGATCC GCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCG CCCTTCCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGTGTGAG CCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGA TTACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCC CAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCGCCGACCTTGCGATCC GCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCG CCCTTCCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTGAG CCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGA TTACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCC CAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCGCCCTTGCGATCC GCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCG CCCTTGCGATCCGCCTTGGCCTGCCAAGGTGCTGTGATTACAGGCGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(618): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	625	c.36 others(636): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B4GALNT3_chr12_454939_568509	545936	A A	AGAGGAGT others(618): Show AGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGT GCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGA TGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGA GGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGA GATGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGATGAGAGGAGTGGGG AGGTGCGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGCGAGGAGTGGG GAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGGAGTGGGG AGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGG GAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGG GGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTG GGGAGGTGAGAGGAGTGGGGAGGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0225 a0001c0001t0005g0225	1	394	0.0025	625	c.639 others(640): Show c.639+514_639+515insGTGCGAGGAGTGGGGAGGTGAGAGGAGTGG GGAGGTGCGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGAGAGGAGTG GGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGATGAGAGGAGT GGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAG TGGGGAGGTGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGT GGGGAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGCGAGGAG TGGGGAGATGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGATGAGAGGA GTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGG AGTGGGGAGGTGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGA GTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGG AGTGGGGAGATGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAG GAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGA GGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL11A_chr2_60452194_60558654	60467461	G G	GGTGATGG others(618): Show GGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGG TGATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGGTG GTGGTGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGT GGTAGTGATGGTGGTGGTAATGGTGGTGGTGGAGATGGTGGTGTTGATGG TGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGATGCTACTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGT AGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGG TGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTG GTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGCTGGT GGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTAGTGATAATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	262	0.0038	625	c.487 others(642): Show c.487+1270_487+1271insTACCACCACCACCACCATCACCACCACC ACCATTACCACCACCATCACTACCACCACCACCATCACCACCAGTACCAT CACCACCACCACCACCACCACCACCATTATCACTACCACCACCACCACCA CCACCACCATCACCACCACCATCACCATCACCACAAAGTACCATGACCAC CAGCACCATCACTACCACCACCACCACCATCACCACCACCACCATTACCA CCACCATCACTACCACCACCACCATCACCACCAGTACCATCACCACCACC ACCATCACTACCACCACCACCACCACCACCATTACCACCACCATCACTAC CACCACCACCATCACCACCAGTACCATCACCACCAGTAGCATCACCACCA CCACCACCATCACCATCACCACCAGTACCATCACCACCAGTACCATCACC ATCAACACCACCATCTCCACCACCACCATTACCACCACCATCACTACCAC CACCACCATCACCACCAGTACCATCACCACCAGTACCATCACCACCACCA CCACCATCACCATCACCACCAGTACCATCACCATCATCACCACCATCACC ACCACCACCATTACCACCACCATCACTACCACCACCACCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BICC1_chr10_58507872_58836435	58621903	T T	TTAGAATA others(618): Show TTAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	132	0.0076	625	c.237 others(642): Show c.237+1069_237+1070insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(618): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATATAATTATATATATTTATATATATATAATTATATATAT ATATAAAATTATATATATAATTATATATATTATATATAATTATATATATA ATTTTATATATATAATTATATATATTTATATATATATATATAATTATATA TATATATAAAATTATATATATAATTATATATATATTATATATAATTATAT ATATATATTATATATAATTTTATATATATAATTATATATATAATTTTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATAATTA TATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	330	0.0030	625	c.907 others(640): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATAAAATTATATATATAAAATTATATATATAAAATTATATATATA AAATTATATATATAATTATATATATAAAATTATATATAATATATATATAT AATTATATATAATATATATATAATTATATATATAATTTTATATATATATA TAATTATATATATATATATAAATATATATAATTATATATATAAAATTATA TATATAATTATATATAATATATATAATTATATATATAATTTTATATATAT ATATAATTATATATATATAAATATATATAATTATATATATATAAAATTAT ATATATAATTATATATATATAAAATTATATATATAATTATATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(618): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATATAATTATATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	330	0.0030	625	c.907 others(640): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATTATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(618): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATATAATTATATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATAATTA TATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01975.hp1 HG02071.hp2 others(9): Show HG01943.hp2 HG01975.hp1 HG02071.hp2 HG02129.hp1 HG02135.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp1 HG04228.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0019 a0002c0002 others(2): Show a0001c0001 a0001c0019 a0002c0002 a0002c0004 a0005c0012	a0001c0001t0001 a0001c0001t0007 a0001c0019t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0019t0001 a0002c0002t0001 a0002c0004t0001 a0005c0012t0002	a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0100 others(9): Show a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0200 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0241 a0001c0001t0007g0071 a0001c0019t0001g0199 a0002c0002t0001g0276 a0002c0004t0001g0065 a0005c0012t0002g0248	12	330	0.0364	625	c.907 others(640): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(618): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATAATTATATATATAATTTT ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATATATAATT ATATATATTATATAATTTTATATATATAATTATATATATTATATAATTAT ATATATAATTTTATATATATATAATTATATATACAATTTTATAATATATA TAATTATATATACAATTATATATATATATAATTATATATATATAATTGTA TATATAATTTTATATATATAATTATATATAATTTTATATATATATAATTA TATATATAATTATATATATATAATTATATATATTTATATATATATATAAT TATATATATAATTTTATATATATAATTTTATATAATTTTATATATAATTA TATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0195 a0003c0003t0001g0195	1	330	0.0030	625	c.907 others(640): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATATAAAA TTATATATATAATTATATATATAAAATTATATATATAATTATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(618): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATAATTATATATATTATATAATT ATATATATAATTTTATATATATATAATTATATATACAATTTTATAATATA TATAATTATATATACAATTATATATATATATAATTATATATATATAATTG TATATATAATTTTATATATATAATTATATATAATTTTATATATATATAAT TATATATATAATTATATATATATAATTATATATATTTATATATATATAAT TATATATATAATTTTATATATATAATTTTATATAATTTTATATATAATTA TATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02683.hp2 HG00140.hp1 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0146 a0003c0003t0001g0277 a0003c0003t0001g0146 a0003c0003t0001g0277	2	330	0.0061	625	c.907 others(640): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATAAATATATATAATTATATATATATAATTATATATATAATTA TATATATATAAAATTATATATAATTATATATATAAAATTATATATACAAT TATATATATATAATTATATATATATATAATTGTATATATAATTATATATA TTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAATT ATATAATATATATAATTATATATATAAAATTATATAATATATATAATTAT ATATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATAATTAT ATATAAAATTATATATATAATTATATATAAAATTATATATATATAAAATT ATATATATAATTATATATATATAAAATTATATATATAATTATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(618): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGGTGT GTGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGG GCTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGGTGGGGTGGAGTG GGGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTG CAGGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGG GTGGGGGAAGGGTGTGGGTGGGGGAGGGGGTGGGGTGGGGTGGGAGGGGG TGGGGTGGAGTGGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGG TGGGGGAAGGGTGCAGGTGGGGTGGGGGAAGGGGTGTGGGTGGGGTGGGG GAGGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGG GTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	284	0.0035	625	c.712 others(642): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCCTTCCCCCACCCCACCTGCACCCTTCCCCCACC CCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCCACTCCACCCCACC CCCTCCCACCCCACCCCACCCCCTCCCCCACCCACACCCTTCCCCCACCC CACCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCA CCCTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCA CTCCACCCCACCCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCC CACCCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACAC ACCCCTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCC ACCCCACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACC CCAACCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCA CCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC127_chr5_191868_223153	210939	C C	CGACATCG others(618): Show CGACATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGG ATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCAACATCACAC ACCGCAGCCACGATGAGACAGCACCACACACCCATCACGATGGGGCAGAC GGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCAT GACGAGACAGCACCACACACCCATCATGATGGGGCAGACTGGACAGCAGT GTGAGCACACTGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCT GATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCC ATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATGCTCGA CATTGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATG GGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCACACT GCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACAGG ACAGCAATGTGAGCACGCTGATGCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp1 HG02886.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0049 a0001c0001t0048 a0001c0001t0049	a0001c0001t0048g0118 a0001c0001t0049g0117 a0001c0001t0048g0118 a0001c0001t0049g0117	2	406	0.0049	625	c.122 others(642): Show c.122-4982_122-4981insAAGCATCAGCGTGCTCACATTGCTGTCC TGTCTGCCCCATCCTGATGGGTGTGTGGTGCTGTCTCGTCGTGGCTGCAG TGTGCGATGTCGAGCATCAGTGTGCTCACACTGCTGTCCCGTCTGCCCCA TCCTGATGGGTGTGTGGTGCTGTCTCGTCGTGGCTGCAGTGTGCAATGTC GAGCATCTCAGCGTGCTCACATTGCTGTCCCGTCTGCCCCATCCTGATGG GTGTGTGGTGCTGTCTCGTCGTGGCTGCAGTGTGCGATGTCGAGCATCAG CGTGCTCACACTGCTGTCCCGTCTGCCCCATCCTGATGGGTGTGTGGTGC TGTCTCGTCGTGGCTGCAGTGTGCGATGTCGAGCATCAGTGTGCTCACAC TGCTGTCCAGTCTGCCCCATCATGATGGGTGTGTGGTGCTGTCTCGTCAT GGCTGCAGTGTGCGATGTCGAGCATCAGCGTGCTCACACTGCTGTCCCGT CTGCCCCATCGTGATGGGTGTGTGGTGCTGTCTCATCGTGGCTGCGGTGT GTGATGTTGAGCATCAGCGTGCTCACACTGCTGTCCCGTCTGCCCCATCC TGATGGGTGTGTGGTGCTGTCTCATCGTGGCTGCAGTGTGCGATGTC	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC57_chr17_82096470_82217842	82215658	G G	GCCCCCAC others(618): Show GCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCTGCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCACACTGCAGCACCCCTCCCCTTCCTTCCCTGCCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	252	0.0040	625	c.-28 others(636): Show c.-2883_-2882insGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2817		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00639.hp1 others(41): Show HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01255.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02738.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03516.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 NA18522.hp2 NA18943.hp2 NA18961.hp1 NA18962.hp1 NA19000.hp2 NA19002.hp1 NA19064.hp1 NA19070.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0027 a0015c0030 a0001c0001 a0001c0027 a0015c0030	a0001c0001t0001 a0001c0027t0001 a0015c0030t0001 a0001c0001t0001 a0001c0027t0001 a0015c0030t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(41): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0027t0001g0072 a0015c0030t0001g0002	44	252	0.1746	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCTTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02015.hp2 HG02040.hp2 others(19): Show HG00609.hp2 HG02015.hp2 HG02040.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG03704.hp1 HG03927.hp1 HG04199.hp2 NA18747.hp2 NA18941.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19087.hp1 NA19090.hp2	a0001 a0010 a0023 a0001 a0010 a0023	a0001c0001 a0010c0016 a0023c0031 a0001c0001 a0010c0016 a0023c0031	a0001c0001t0001 a0001c0001t0004 a0010c0016t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0010c0016t0001 a0023c0031t0001	a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0123 others(19): Show a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0251 a0001c0001t0004g0144 a0010c0016t0001g0106 a0010c0016t0001g0184 a0023c0031t0001g0109	22	252	0.0873	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCGCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02258.hp1 HG02647.hp2 others(4): Show HG01169.hp2 HG02258.hp1 HG02647.hp2 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA21309.hp1	a0005 a0014 a0005 a0014	a0005c0008 a0014c0020 a0005c0008 a0014c0020	a0005c0008t0001 a0014c0020t0002 a0005c0008t0001 a0014c0020t0002	a0005c0008t0001g0064 a0005c0008t0001g0065 a0005c0008t0001g0066 others(4): Show a0005c0008t0001g0064 a0005c0008t0001g0065 a0005c0008t0001g0066 a0005c0008t0001g0067 a0005c0008t0001g0068 a0005c0008t0001g0173 a0014c0020t0002g0063	7	252	0.0278	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGCGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	252	0.0040	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCTCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	252	0.0040	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGAGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCTTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02015.hp1 HG02683.hp2 others(2): Show HG00558.hp1 HG02015.hp1 HG02683.hp2 NA18959.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0185 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188	5	252	0.0198	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAA GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATACCCC others(618): Show TATACCCCAACATACACACACACACACACACACACACACTGCAATACACA CACCACACATACACCCCAACACACACACACACACATACAGACACCAATAC ATACACCATGCATATACCCCAACACACACACACCCCCAATACACTCACAA CACATACACCCCAACACACACACACCCCCAATACACACACCACACATATA CCCCAACACACACACACACACACCCAATACACACACCACACATATACCCC AACACACACACACCAATACATGCACCAACACATATACCCCAACATACACA CACACCCCCAACACACACCAAAGCATATACGCCAACACACACACACATAC ACAGCAATGCATTACCCCAACATACACACACAGACACACACACAATACAC ACACCAATACACACCAATGCATATACCCCAACATACACACATATAGCAAC ATACACCCTAACACACATACATACACATACACACACCAAATAGACACACA CCCCAACACACACAACCAACACCCCCACACACCCAACACACACACATACA CGTACACACACATCAACACATAACTATGCACCCCAACACACACACACACA CACAACATACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18522.hp2 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0177 a0001c0001t0004g0001 a0001c0001t0001g0177 a0001c0001t0004g0001	2	184	0.0109	625	c.449 others(642): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGT GTATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGT ATGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTG TGTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGG GGTATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTA TATGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTT GTGAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGT ATTGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTG TGTATTGCAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTGGGGTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	428	0.0023	625	c.217 others(640): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0038 a0038	a0038c0061 a0038c0061	a0038c0061t0001 a0038c0061t0001	a0038c0061t0001g0135 a0038c0061t0001g0135	1	428	0.0023	625	c.217 others(640): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924924	A A	ACCCAGCC others(618): Show ACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACAC TGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCAC ACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCA CACTGACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACT GACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	350	0.0029	625	c.489 others(640): Show c.489-797_489-796insAGCCCCCACACTGACCCGGCCCCCCACACT AACCCAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACAC TAACCCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCAC ACTGACCCAGCCCCCACACTGACCCAGTCCCCACACTAACCCAGCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCC CCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGG CCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTA ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTATCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35957930	T T	TCACCACC others(618): Show TCACCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACC ATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACCATCAC CACCATCACCACTATAACCACCACTACCACCACCACCATTATAACCATCA CCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTACA ACCATTACCACCATCACTGCTATAACCACCACCACCACCACCACCACTAT AACCACCATCATCATCACCACCACTACCACTACTATAACCATCACCACCA TCACTGCTATAACCACCACCACCACCACTATAACCACCACCACCACCACC ACCACCACTATAATCATTACCACTATAACCACCACTACCACCACCACCAC CATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCA CTACCACTACTATAACCATCACCACCATCACTACTATAACCACCACTACC ACCACCACCACTATGATAACCATCACCAACACCACTATAACCACCAATGC CAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAG GACCAACCAGGACCAACCAGGACCAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0128 a0001c0001t0018g0128	1	230	0.0044	625	c.724 others(644): Show c.724-10474_724-10473insTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTGGTGGT GGTAGTGGTGGTTATAGTAGTGATGGTGGTGATGGTTATAGTAGTGGTAG TGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATG GTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGT GGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGA TGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTT ATAGTGGTGGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGT TGTAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGG TGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTG GTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGAT GGTTACAGTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251256	C C	CCCCACAC others(618): Show CCCCACACCCCCCACACCCCTCACATCCCCCACACCCCCCAAATCCCCCA CACCCCCCCACACCCCCCACATCCCCACACACCACAAATCCTCCACACCC CCCAACACCCCCACACACCCCCCACACACCCCCCACACCACACATCCCCC ACACCCCCCACACCACACACCCCCCACACCCCCCAACACCCCCACACCCC CACACCCCCACACACCACACATCCCCCACACCCCCCACACCCCCACACCC CCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCA CATCTCCCCACACCCCCCACATCCCCACACCCCCATCCCCCACACTCCCC ACACCCCCCACATCCCCCACATCCCCCAAATCCCCCACACCCCCCCACAC CCCCCACATCCCCACACACCACAAATCCTCCACACCCCCCAACACCCCCA CACACCCCCCACACCACACATCCCTCACACCCCCAACACCCCCACACCTC CCACACCCCCCAAATCCCCCACACCCCCCACATCCCCCATACCCCTCACA CCACACATTCCCTCACACCCCTCACA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	116	0.0086	625	c.207 others(644): Show c.2073+1574_2073+1575insCACACCCCCCACACCCCTCACATCCC CCACACCCCCCAAATCCCCCACACCCCCCCACACCCCCCACATCCCCACA CACCACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCACACAC CCCCCACACCACACATCCCCCACACCCCCCACACCACACACCCCCCACAC CCCCCAACACCCCCACACCCCCACACCCCCACACACCACACATCCCCCAC ACCCCCCACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTC ACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCC CCAAATCCCCCACACCCCCCACATCTCCCCACACCCCCCACATCCCCACA CCCCCATCCCCCACACTCCCCACACCCCCCACATCCCCCACATCCCCCAA ATCCCCCACACCCCCCCACACCCCCCACATCCCCACACACCACAAATCCT CCACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCTCACA CCCCCAACACCCCCACACCTCCCACACCCCCCAAATCCCCCACACCCCCC ACATCCCCCATACCCCTCACACCACACATTCCCTCACACCCCTCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(618): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCCCCACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCCACCCCCACCCCCA CCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACC CGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCG CACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCA CCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACC CGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCC CACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCA CCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACC CCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	320	0.0031	625	c.39 others(636): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGG GGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGG GTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGG GGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(618): Show GGAGGTGAGGGGCAGGGGAGGGGAGGGGAGGGGCAGGGGAGGGGAGGGGC AAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGA TAAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGGGGC AGGGAAGGTGAGATGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGC AGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGTGAGATGAGGGG CAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAG GTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGG CAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAG GCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGG CAGGGGAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0080 a0001c0015t0001g0080	1	248	0.0040	625	c.62- others(642): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGGGAGGGGCAGGGG AGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGG GGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATG AGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGGTGAGGTGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTG AGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGT GAGATGAGGGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAG GGGCAGGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCA GGGGAGGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(618): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGC AGGTGAGGTGAGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGG TGAGATGAGGGATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGTGAGATGAGGGG CAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAG GTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGG CAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAG GCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGG CAGGGGAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0148 a0001c0001t0046g0148	1	248	0.0040	625	c.62- others(642): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGTCAGGGG AGGTGAAGGGCAGGTGAGGTGAGATGAGGGGCAGGGGAGATGAGATGAGG GGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGT GAGATGAGGGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAG GGGCAGGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCA GGGGAGGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(618): Show GTATATACATATAAATATATATGTATGTATATTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TACATTTATATACATATAAATATATACATATATACATATAAATATATATT TATATACATATAAATATATATATTTATATATATTTATATATATATAAATA TATATATATTTGTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATATATACATATAAATATATATTTATATACATA TAAATATATAATTATATACATATAAATATATAATTATATACATATAAATA TATATAATTATATACATATAAATATATATTTATATACATATAAATTTATA TACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0003 a0003c0022t0003	a0003c0022t0003g0258 a0003c0022t0003g0258	1	292	0.0034	625	c.49 others(636): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATAAATATATATATATTTATATATA TATAAATATATATATATTTATATATATATACAAATATATATATATTTATA TATATATAAATATATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATTTA TATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	625	c.31 others(636): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	625	c.31 others(636): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGC AGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	422	0.0024	625	c.31 others(636): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGC AGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(618): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCATCATCATCATCA CCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCATCA CCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACCACC ACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCACCAC CACCATCATCATCACCACCACCACCATCACCACCACCACCACCATCATCA TCACCACCACCACCACCATCACCACCACCACCACCATCATCATCACCACC ATCATCATCACCACCACCACCATCACCACCACCACCACCATGACCACCAC CACCACCCTCATCACCACCACCACCACCATCACCATTACCACTACCACCG CCACCATCATCACCACCAGCACCACCAACACCATCATCACCACCACCACC ATCACCACCACCATCCCCATCATCAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	128	0.0078	625	c.116 others(644): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCATCA TCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCACAA TCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATCACC ATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCACCAT CACCACCACCACCATCATCATCACCACCACCACCATCACCACCACCACCA CCATCATCATCACCACCACCACCACCATCACCACCACCACCACCATCATC ATCACCACCATCATCATCACCACCACCACCATCACCACCACCACCACCAT GACCACCACCACCACCCTCATCACCACCACCACCACCATCACCATTACCA CTACCACCGCCACCATCATCACCACCAGCACCACCAACACCATCATCACC ACCACCACCATCACCACCACCATCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48834567	C C	CCTGGACT others(618): Show CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGG GAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0349 a0002c0002t0001g0349	1	394	0.0025	625	c.128 others(640): Show c.128-210_128-209insACCTCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTC AGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGAC CCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG CTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTC CTCCCTCAGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IDE_chr10_92446684_92579093	92524517	A A	ATATATTA others(618): Show ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATATATAATATATATTATATTATATATAATATA TTTTATATAATATATAATATATATTATATTATATATAATATATTTTATAT AATATATAATATATATTATATTATATATAATATATTTTATATAATATATA ATATATATTATATTATATATAATATATTTTATATAATATATAATATATAT TATATTATATATAATATATTTTATATAATATATAATATATATTATATTAT ATATAATATATTTTATATAATATATAATATATATTATATTATATATAATA TATTTTATATAATATATAATATATATTATATTATATATAATATATTTTAT ATAATATATAATATATATTATATTATATATAATATATATTATATAATATA TAATATATATTATATTATATATATTATATATAAAATATAATATATATTAT ATTATATATATTATATATAAAATATAATATATATTATATTATATATAATA TATTTTATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	314	0.0032	625	c.661 others(642): Show c.661+7230_661+7231insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATTTTATATATAATATATATAATAT AATATATATTATATTTTATATATAATATATATAATATAATATATATTATA TATTATATAATATATATTATATATAATATAATATATATTATATATTATAT AAAATATATTATATATAATATAATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATAAAATATATTATATAT AATATAATATATATTATATATTATATAAAATATATTATATATAATATAAT ATATATTATATATTATATAAAATATATTATATATAATATAATATATATTA TATATTATATAAAATATATTATATATAATATAATATATATTATATATTAT ATAAAATATATTATATATAATATAATATATATTATATATTATATAAAATA TATTATATATAATATAATATATATTATATATTATATAAAATATATTATAT ATAATATAATATATATTATATATTATATAAAATATATTATATATAATATA ATATATATTATATATTATATAAAATATATTATATATAATATAATATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(618): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATA TATGCAACATATATATGTGGAACCAATACATATATGCAACATATATATGT GGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	323	0.0031	625	c.-36 others(636): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATATGCAACATATATATG TGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATAT GCAACATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar

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Search Results (Total: 10000 hits)