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
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(207): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCCCTCCCCCTCCCCCTCCCCTATCCCCTCCCCACTCCCCCTCCCCCTCC CCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02698.hp2 HG01346.hp1 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0002 a0001c0002t0001 a0001c0007t0002	a0001c0002t0001g0161 a0001c0007t0002g0107 a0001c0002t0001g0161 a0001c0007t0002g0107	2	336	0.0060	214	c.-37 others(225): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGG GGAGGGGATAGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGG GAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA2_chr16_278164_292215	285909	C C	CCCAACCC others(207): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0001 a0007c0022t0001	a0007c0022t0001g0167 a0007c0022t0001g0167	1	436	0.0023	214	c.111 others(231): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACCCCAACC CCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCC CAACCCCGCGGTTCTCCCAACCCCAACACCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGCT others(207): Show GGGGGGCTCGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0325 a0001c0001t0004g0325	1	358	0.0028	214	c.143 others(229): Show c.143-312_143-311insCTCGCGGGGGGCGGGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCG GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCGGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977276	C C	CGCTCCCC others(207): Show CGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGG GAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCC CAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTC CCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0086 a0017c0029t0001g0086	1	408	0.0025	214	c.215 others(231): Show c.2150-653_2150-652insAGTGGGAGGCGGTTCCCGGGGTTGCGGG GGGAGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCTCG GGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAG GCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCG GTGGGGGCAGGCGGTTCCCGGGGTTGCGGGGGGAGC	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	101254	G G	GGAGAGAC others(207): Show GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCC TGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAA GCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAA AAAGCCTGTAGGGGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0013 a0013	a0013c0067 a0013c0067	a0013c0067t0046 a0013c0067t0046	a0013c0067t0046g0186 a0013c0067t0046g0186	1	210	0.0048	214	c.45+ others(229): Show c.45+8982_45+8983insGACTGTTGTGAGGTTAATCCATATAAAGCT CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATAT AAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCA TATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(207): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATAATATATAT TATATATAAAAATATATTTATATATATTATATTATATACAATATATTATA TATATTATATTATATATAATATATTATATATATTATATTATATATAATAT ATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00741.hp1 others(6): Show HG00140.hp1 HG00408.hp2 HG00741.hp1 HG01070.hp2 HG01515.hp1 HG01891.hp1 HG02257.hp1 HG02717.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0047	9	286	0.0315	214	c.-50 others(225): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTGTATATAA TATAATATATATAAATATATTTTTATATATAATATATATTATATTATATA TAAATATATATTATATATAATATATATTATATTATATATAATATATTTTT ATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50344053	C C	CCCCCCCA others(207): Show CCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCC CTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCC AGTCAGTGCCTCCTCCAGTCAGTTTCCCCCCAGTCAGTGCCTCCTCCAGT CAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGC CCCCTCCAGTCAGTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0089 a0001c0005t0002g0089	1	340	0.0029	214	c.-14 others(231): Show c.-148+509_-148+510insAGTCAGTGCCCCCTCTAGTCAGTTCCCC CCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCT AGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCCAGTC AGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTT TCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50344164	T T	TCCTCCAG others(207): Show TCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCC AGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTC AGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTG CCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTTCC CCCCAGTCAGTGCCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19010.hp1 NA18980.hp2 NA19010.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0101 a0001c0005t0002g0102 a0001c0005t0002g0101 a0001c0005t0002g0102	2	340	0.0059	214	c.-14 others(231): Show c.-148+723_-148+724insCAGTCAGTGCCCCCTCTAGTCAGTTCCC CCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTC TAGTCAGTTTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTTCCCCCAGTC AGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTT TCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(207): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	340	0.0029	214	c.227 others(231): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCB_chr16_23830983_24225611	23981838	C C	CTTTCCCT others(207): Show CTTTCCCTTCCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCC TTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTTTCCCTTCACCTT CCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTTCCCTT CCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTTTTCCCTTCCCTT CCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00639.hp1 others(65): Show HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG02015.hp1 HG02015.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18983.hp2 NA18998.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0018 a0002c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(60): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0032 a0001c0001t0036 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0056 a0001c0001t0058 a0001c0001t0066 a0001c0001t0069 a0001c0001t0076 a0001c0002t0001 a0001c0002t0002 a0001c0002t0013 a0001c0002t0023 a0001c0002t0034 a0001c0002t0035 a0001c0002t0043 a0001c0002t0055 a0001c0002t0084 a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0024 a0001c0003t0026 a0001c0003t0047 a0001c0003t0064 a0001c0003t0065 a0001c0003t0071 a0001c0004t0007 a0001c0004t0009 a0001c0004t0053 a0001c0004t0072 a0001c0004t0077 a0001c0005t0003 a0001c0005t0006 a0001c0005t0020 a0001c0005t0051 a0001c0007t0001 a0001c0007t0022 a0001c0007t0025 a0001c0007t0054 a0001c0008t0016 a0001c0008t0037 a0001c0009t0073 a0001c0010t0088 a0001c0011t0002 a0001c0011t0063 a0001c0012t0024 a0001c0014t0001 a0001c0018t0008 a0002c0017t0027	a0001c0001t0002g0129 a0001c0001t0003g0105 a0001c0001t0003g0117 others(65): Show a0001c0001t0002g0129 a0001c0001t0003g0105 a0001c0001t0003g0117 a0001c0001t0004g0106 a0001c0001t0005g0104 a0001c0001t0005g0138 a0001c0001t0008g0054 a0001c0001t0010g0053 a0001c0001t0011g0112 a0001c0001t0014g0137 a0001c0001t0017g0070 a0001c0001t0019g0102 a0001c0001t0021g0118 a0001c0001t0032g0130 a0001c0001t0036g0110 a0001c0001t0045g0071 a0001c0001t0046g0029 a0001c0001t0049g0101 a0001c0001t0056g0109 a0001c0001t0058g0072 a0001c0001t0066g0007 a0001c0001t0069g0049 a0001c0001t0076g0100 a0001c0002t0001g0003 a0001c0002t0002g0132 a0001c0002t0013g0020 a0001c0002t0023g0079 a0001c0002t0023g0080 a0001c0002t0034g0085 a0001c0002t0035g0139 a0001c0002t0043g0059 a0001c0002t0055g0114 a0001c0002t0084g0066 a0001c0003t0001g0128 a0001c0003t0003g0086 a0001c0003t0007g0063 a0001c0003t0008g0140 a0001c0003t0024g0057 a0001c0003t0026g0113 a0001c0003t0047g0055 a0001c0003t0064g0147 a0001c0003t0065g0119 a0001c0003t0071g0046 a0001c0004t0007g0041 a0001c0004t0009g0011 a0001c0004t0009g0092 a0001c0004t0053g0030 a0001c0004t0072g0094 a0001c0004t0077g0091 a0001c0005t0003g0042 a0001c0005t0006g0028 a0001c0005t0020g0037 a0001c0005t0051g0040 a0001c0007t0001g0116 a0001c0007t0022g0089 a0001c0007t0025g0052 a0001c0007t0054g0095 a0001c0008t0016g0124 a0001c0008t0016g0125 a0001c0008t0037g0123 a0001c0009t0073g0031 a0001c0010t0088g0099 a0001c0011t0002g0136 a0001c0011t0063g0067 a0001c0012t0024g0022 a0001c0014t0001g0107 a0001c0018t0008g0048 a0002c0017t0027g0077	68	148	0.4595	214	c.206 others(231): Show c.206-6668_206-6667insTCCCTTCCCCTTCACTTTCCCTTCCCCT TCCCTTCCCTTTCCCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCAC TTCCCTTTCCCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCC TTCCCCTTCCCTTTCCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCC TTTCCTTTTCCCTTCCCTTCCCTTTCCCTTCCTTTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRPF31_chr19_54110754_54136713	54133982	T T	TCCACCTC others(207): Show TCCACCTCCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTC TCCACCTTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTT CCCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCTCCCCTCTC CCTCCCTCTCTCTCCTCCCCTCTCCCTCCCTCCACCTCCCCTCCCTCTCT CCCTCCCTCTCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	227	0.0044	214	c.25 others(225): Show c.2550_*2551insCCACCTCCCCTCCCTCTCTCCACCTCCCCTCTCT CCCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCCCT CCCTCTCTCCACCTTCCCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTC TCCACCTCCCCTCTCCCTCCCTCTCTCTCCTCCCCTCTCCCTCCCTCCAC CTCCCCTCCCTCTCTCCCTCCCTCTCTCCA	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2270		chr19	TogoVar
PSME3_chr17_42828397_42848760	42848544	T T	TATATATA others(207): Show TATATATATACGTATATATATATATATATATACGTATATATATATATATA TATACACGTATATATATATATATATATACGTATATATATATATATATATA CGTATATATATATATATATATACACGTATATATATATATATATACGTATA TATATATATATATATACGTATATATATATATATATACGTATATATATATA TATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	264	0.0038	214	c.69 others(225): Show c.6966_*6967insATATATATACGTATATATATATATATATATACGT ATATATATATATATATATACACGTATATATATATATATATATACGTATAT ATATATATATATATACGTATATATATATATATATATACACGTATATATAT ATATATATACGTATATATATATATATATATACGTATATATATATATATAT ACGTATATATATATATATATATATATATAC	PSME3	ENSG00000131467.12	transcript	ENST00000590720.6	protein_coding		4785		chr17	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(207): Show TCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTC CCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCTC CTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCC TCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0061 a0002c0003t0002g0061	1	94	0.0106	214	c.191 others(235): Show c.191-103924_191-103923insCCCTCCTCTCCTCTCCTCTCCACT CCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTCCCCTCT CCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCT CCTCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCC CTCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(207): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTC CCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCCCTCCCCC TCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0032 a0007c0009t0002g0032	1	94	0.0106	214	c.191 others(235): Show c.191-103924_191-103923insCTCTCCTCTCCACTCCTCCCCTCC CCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCT CCTCCCCCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61987705	T T	TAAAATTC others(207): Show TAAAATTCCTATTTTGTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGTTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	94	0.0106	214	c.191 others(231): Show c.191-1905_191-1904insTACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGTTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAATTCCTATTTTG	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRT_chr20_42067756_43194906	42993527	C C	CATATATT others(207): Show CATATATTTGTGTATATATATACATATATGTGTGTGTATATATACATATA TGTGTGTGTGTATATATATACATATGTGTGTGTATATATACATATATGTG TGTGTATATATACACATATATGTGTGTGTATATATACATATATGTGTATA TATATACACACATATATGTGTATATATATACACACACATATATGTGTATA TATATACACACATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG01109.hp2 HG01261.hp2	a0004 a0007 a0004 a0007	a0004c0020 a0007c0010 a0004c0020 a0007c0010	a0004c0020t0016 a0007c0010t0009 a0004c0020t0016 a0007c0010t0009	a0004c0020t0016g0029 a0007c0010t0009g0021 a0004c0020t0016g0029 a0007c0010t0009g0021	2	62	0.0323	214	c.89- others(233): Show c.89-107596_89-107595insATATGTGTGTATATATATACACATAT ATGTGTGTGTATATATATACACATATATGTGTGTATATATATACACATAT ATGTATATATACACACACATATATGTGTATATATACACACACATATATGT ATATATACACACACATATGTATATATATACACACACACATATATGTATAT ATACACACACATATATGTATATATATACACAAATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTTG1IP_chr21_44844598_44878690	44863291	G G	GCCACGGC others(207): Show GCCACGGCCTCAGCAGCAGACACACAGCCCACCACGGCCTCAGGAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCACAGAGACACACAGCCCGCCACGGCCTCAGCAGCAGAGACACA GCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAG CAGAGACACAGCCCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	444	0.0023	214	c.169 others(231): Show c.169-2021_169-2020insTGGGCTGTGTCTCTGCTGCTGAGGCCGT GGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTG CTGAGGCCGTGGCGGGCTGTGTGTCTCTGTGCTGCTGAGGCCGTGGTGGG CTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTCCTGAGG CCGTGGTGGGCTGTGTGTCTGCTGCTGAGGCCGTGG	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(207): Show TATATATAATACATAATATATATTATATGATATATATAATACATTATATA TTATTATATAATATATATTATGTATTATATATATTATATAATATATATTA TGTATTATATATTATATAATATATATGTATATATTATATAATATATATTA TGTATAATATATAATACATTATATATTATATAATATAGATAATACATTAT ATATATTATATAATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0089 a0001c0001t0003g0090	2	220	0.0091	214	c.24+ others(231): Show c.24+13898_24+13899insTTATATGATATATATAATACATTATATA TTATTATATAATATATATTATGTATTATATATATTATATAATATATATTA TGTATTATATATTATATAATATATATGTATATATTATATAATATATATTA TGTATAATATATAATACATTATATATTATATAATATAGATAATACATTAT ATATATTATATAATAATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377594	T T	TGCATATA others(207): Show TGCATATATATGCATATATATGTATGCATATATATATGCATATATATGTA TACATATATATGCATATATATATGCATACATATATATGCATATATATGCA TATATATATGTATACATATATATGCATATATATGTATACATATATATGCA TATATATATGCATACATATATATGCATACATATATGCATGCATATATATA TGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	359	0.0028	214	c.351 others(231): Show c.351+2883_351+2884insGCATATATATGCATATATATGTATGCAT ATATATATGCATATATATGTATACATATATATGCATATATATATGCATAC ATATATATGCATATATATGCATATATATATGTATACATATATATGCATAT ATATGTATACATATATATGCATATATATATGCATACATATATATGCATAC ATATATGCATGCATATATATATGCATACATATATGC	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18			chr5	TogoVar
RAI14_chr5_34651328_34837612	34665007	A A	ATATATAT others(207): Show ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATGTGTATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp2 HG03209.hp1 HG02895.hp1 HG03130.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0004 a0001c0001t0003 a0002c0005t0004	a0001c0001t0003g0158 a0001c0001t0003g0240 a0002c0005t0004g0157 a0001c0001t0003g0158 a0001c0001t0003g0240 a0002c0005t0004g0157	3	254	0.0118	214	c.-49 others(231): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATGTGTATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(207): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCCGTCCCC ATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGT CCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCC ATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGT CCCCCATCCCCCGTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	452	0.0022	214	c.757 others(229): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCA TCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCC CCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCA TCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(207): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCCGTCCCCATCCCCC ATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGT CCCCCATCCCCCGTC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	452	0.0022	214	c.757 others(229): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCA TCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(207): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	166	0.0060	214	c.908 others(231): Show c.908-2238_908-2237insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RIPOR3_chr20_50581108_50696542	50666181	C C	CCTTCCCT others(207): Show CCTTCCCTTCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	280	0.0036	214	c.3+2 others(229): Show c.3+24944_3+24945insAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGGAAGGGAAG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGTGGGG others(207): Show GGGTGGGGTGGAGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGA GGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCC CACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCT GCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGC CCCCGCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0307 a0001c0001t0031g0307	1	356	0.0028	214	c.-36 others(229): Show c.-367+48_-367+49insTGGGGTGGAGTGGGGTGGGGTGGGGCGGGG CCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGT CCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACG CCGCTGCCGCCGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCGCCGCCGCC CCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCGG	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPA3_chr7_7631518_7723607	7679342	T T	TACATGTT others(207): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19076.hp1 HG02698.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0207 a0001c0001t0016g0152 a0001c0001t0001g0207 a0001c0001t0016g0152	2	308	0.0065	214	c.-75 others(233): Show c.-758+6487_-758+6488insTATCTATAAACTAAATATATAAATAT ATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAA ATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTA TCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAACATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	288621	T T	TCTCTCCA others(207): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCGCACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	133	0.0075	214	c.352 others(231): Show c.352-6768_352-6767insGGTGCGAGGTCTGACGGTGGAGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG AGAGGGTGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACGGT GGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGA CGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	317207	C C	CCACCTCC others(207): Show CCACCTCCATTGACCTGCAGTGCCTGTGCTCCACCTCCATTGACCTGCAG TCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTCTGTCCCACCTCCAT TGACCTTTAGTCCATGTGCCCCACCTCCATTGACCTGAAGTCCCTGTGCC CCCACCTCCATTGACCTGTAGTCCCTGTGGCCCCACGTCCATTGACTTGT AGTCTCTGTGCTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(19): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00544.hp2 HG01070.hp1 HG01167.hp1 HG01243.hp2 HG01358.hp1 HG02698.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 NA18947.hp1 NA18951.hp1 NA18963.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19043.hp1 NA19088.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0007 a0005c0010 a0001c0001 a0004c0007 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0004c0007t0007 a0005c0010t0003	a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0133 others(19): Show a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0133 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0005g0100 a0001c0001t0008g0113 a0001c0001t0008g0130 a0001c0001t0010g0015 a0001c0001t0010g0131 a0001c0001t0015g0036 a0001c0001t0015g0041 a0001c0001t0016g0082 a0001c0001t0016g0093 a0001c0001t0021g0077 a0001c0001t0022g0071 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0033g0063 a0001c0001t0034g0018 a0004c0007t0007g0117 a0005c0010t0003g0085	22	133	0.1654	214	c.351 others(231): Show c.351+1999_351+2212dupTGGAGCACAGAGACTACAAGTCAATGGA CGTGGGGCCACAGGGACTACAGGTCAATGGAGGTGGGGGCACAGGGACTT CAGGTCAATGGAGGTGGGGCACATGGACTAAAGGTCAATGGAGGTGGGAC AGAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTGCAGGTCAATG GAGGTGGAGCACAGGCACTGCAGGTCAATGGAGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477027	G G	GCCCCCTC others(207): Show GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACAC CCTCTGCCCCCTCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	408	0.0025	214	c.727 others(229): Show c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCACCCCC GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG GGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477029	C C	CCCCTCCA others(207): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCACAGCC CGGGGGTGCCCCACACTCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC TCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	408	0.0025	214	c.727 others(229): Show c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCACCC CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGT GGAGTGGAGGGGTCAGAGAGTGTGGGGCACCCCCGGGCTGTGGAGTGGAG GGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAG GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(207): Show CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC TCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	2	408	0.0049	214	c.727 others(227): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG GGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(207): Show CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCACAGCC CGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC TCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	408	0.0025	214	c.727 others(227): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCCTCCA others(207): Show CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC CCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC TCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp1 HG01255.hp2 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0332 a0002c0003t0001g0345 a0002c0003t0001g0332 a0002c0003t0001g0345	2	408	0.0049	214	c.727 others(227): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGG AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG GGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG TGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SAMD10_chr20_63969116_63984642	63970825	C C	CCTTCCTT others(207): Show CCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTACCTCCCT TCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCTTTCC TTCCTTCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCC TTCCTCCCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCC TTCCTTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG04228.hp1 HG03654.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0018 a0001c0002t0005g0018	2	342	0.0059	214	c.46 others(225): Show c.4684_*4685insAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGGA GGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAAG AGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAGAAGGG AGGGAGGGAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGTAGGGAGGGAGG GAAGAGAAGAGAAGGAAAGAGAAAAGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3290		chr20	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(207): Show ATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTAT AAACAGTATAAACAGTGCAAACAGTGCAGTGTAAACAGTGCAGTATAAAC AGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGT ATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG02897.hp2 others(2): Show HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0126 a0001c0001t0001g0343 a0001c0001t0009g0123 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0343 a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0001t0009g0125	5	386	0.0130	214	c.21+ others(229): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTGCACTGTTTATACTGTTTATACTGCACTGTTTA CACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTATACTGCAC TGTTTACACTGCACTGTTTACACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCNN1B_chr16_23297302_23386294	23379121	A A	ACCCAGCC others(207): Show ACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCC TCCACCCATTCATCCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCA CTCATTCATCCTCCATTCTCCCACCCACGCGCCCAGCCATCCTCCACTCA TTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCA TCATCCACCCACGCG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0273 a0001c0001t0001g0098 a0001c0001t0001g0273	2	306	0.0065	214	c.146 others(231): Show c.1466+396_1466+397insGCCATCCTCCACCCATTCATCCCTCCAT CATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCC CACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACC CAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACGCGCCCAGC CATCCTCCACTCATTCATCCTCCATTCTCCCACCCA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDCCAG8_chr1_243251041_243505091	243480824	T T	TGGATGGA others(207): Show TGGATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGT GTGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGGTGGGATGGATGGATGGATGGATGGGTGGGATGGATGAATGGG GGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	189	0.0053	214	c.198 others(233): Show c.1986-8180_1986-8179insGTGGGATGGATGGATGGATGGGTGGA TGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGTA TGGATGGATGGGTGTGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGGTGGG ATGGATGAATGGGGGATGGATGGATGGGGGATGGATGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(207): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC TTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	214	0.0047	214	c.691 others(233): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(207): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0188 a0001c0001t0010g0188	1	214	0.0047	214	c.691 others(233): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(207): Show GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	330	0.0030	214	c.970 others(233): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281252	G G	GGACGCCC others(207): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGCGGACGCC CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGG AGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	330	0.0030	214	c.970 others(233): Show c.970-21726_970-21725insGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCATAGAGCGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGA GCGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281252	G G	GGATGCCC others(207): Show GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCC CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGGTGGCGG AGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	330	0.0030	214	c.970 others(233): Show c.970-21726_970-21725insGATGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GCCTCCGG others(207): Show GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC GGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(133): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0002 a0002c0003 a0002c0006 others(2): Show a0002c0002 a0002c0003 a0002c0006 a0007c0014 a0008c0013	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(19): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0018 a0002c0002t0019 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0003t0002 a0002c0003t0011 a0002c0003t0039 a0002c0003t0041 a0002c0003t0042 a0002c0006t0004 a0007c0014t0004 a0008c0013t0040	a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0018 others(109): Show a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0045 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0066 a0002c0002t0002g0074 a0002c0002t0002g0136 a0002c0002t0002g0139 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0002g0148 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0224 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0257 a0002c0002t0002g0271 a0002c0002t0004g0002 a0002c0002t0004g0009 a0002c0002t0004g0027 a0002c0002t0004g0039 a0002c0002t0004g0042 a0002c0002t0004g0061 a0002c0002t0004g0161 a0002c0002t0004g0162 a0002c0002t0004g0163 a0002c0002t0004g0164 a0002c0002t0004g0165 a0002c0002t0004g0166 a0002c0002t0004g0167 a0002c0002t0004g0198 a0002c0002t0004g0220 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0255 a0002c0002t0004g0256 a0002c0002t0005g0134 a0002c0002t0005g0135 a0002c0002t0005g0140 a0002c0002t0005g0143 a0002c0002t0005g0186 a0002c0002t0005g0191 a0002c0002t0005g0258 a0002c0002t0007g0007 a0002c0002t0007g0049 a0002c0002t0007g0050 a0002c0002t0007g0051 a0002c0002t0011g0137 a0002c0002t0011g0183 a0002c0002t0018g0138 a0002c0002t0018g0141 a0002c0002t0019g0122 a0002c0002t0019g0240 a0002c0002t0036g0187 a0002c0002t0037g0029 a0002c0002t0038g0124 a0002c0002t0043g0195 a0002c0002t0044g0197 a0002c0002t0045g0043 a0002c0002t0046g0123 a0002c0003t0002g0006 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0133 a0002c0003t0002g0171 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0177 a0002c0003t0002g0206 a0002c0003t0002g0216 a0002c0003t0011g0170 a0002c0003t0011g0175 a0002c0003t0039g0176 a0002c0003t0041g0172 a0002c0003t0042g0196 a0002c0006t0004g0063 a0002c0006t0004g0064 a0002c0006t0004g0065 a0007c0014t0004g0062 a0008c0013t0040g0149	136	318	0.4277	214	c.949 others(229): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGG	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC2A5_chr1_9030106_9074635	9053455	A A	ATATATAT others(207): Show ATATATATTATATATATTATATATTTATATATTATATATATTTATATATA TTATATATTTATATATTATATATATTTATATATATTATATATTTATATAT TATATATATTTATATATATTATATATTTATATATTATATATATTTATATA TATTATATATTTATATATTATATATATTTATATATATTATATATATTTAT ATATATTATTATATT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	336	0.0030	214	c.293 others(231): Show c.293+3992_293+3993insAATATAATAATATATATAAATATATATA ATATATATAAATATATATAATATATAAATATATAATATATATAAATATAT ATAATATATAAATATATAATATATATAAATATATATAATATATAAATATA TAATATATATAAATATATATAATATATAAATATATAATATATATAAATAT ATATAATATATAAATATATAATATATATAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC35F1_chr6_117902264_118322671	117923680	T T	TATGTACA others(207): Show TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATGTATATATACATATATGTACATATGTACATATATACATATA CATATGTACATATACACATATACATATGTACATATGTACATATACATATG TATATATACATATATGTACATATATACATATACATATGTATATATACATA TATGTACATATATAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18979.hp1 NA18946.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0125 a0001c0001t0013g0129 a0001c0001t0002g0125 a0001c0001t0013g0129	2	182	0.0110	214	c.173 others(233): Show c.173+15783_173+15784insGTACATATATACATATGTATATATAC ATATATGTACATATGTACATATATACATATGTATATATACATATATGTAC ATATGTACATATATACATATACATATGTACATATACACATATACATATGT ACATATGTACATATACATATGTATATATACATATATGTACATATATACAT ATACATATGTATATATACATATATGTACATATATACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923718	C C	CATATATG others(207): Show CATATATGTATATATATACATATGTACATATATACATATATGTACATATG TACATATATGTATATACATATATACATATGCATATATACATATATGTACA TATGTACATATATACATATACATATATGTACATATACACATATACATATG TATATATACATATATGTACACATGTACATATACATATGTATATATGTACA TATGTACATATATGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0105 a0001c0001t0024g0105	1	182	0.0055	214	c.173 others(233): Show c.173+15825_173+15826insGTATATATATACATATGTACATATAT ACATATATGTACATATGTACATATATGTATATACATATATACATATGCAT ATATACATATATGTACATATGTACATATATACATATACATATATGTACAT ATACACATATACATATGTATATATACATATATGTACACATGTACATATAC ATATGTATATATGTACATATGTACATATATGTATATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC45A4_chr8_141202174_141313288	141203505	G G	GGAGAGAG others(207): Show GGAGAGAGGGAGAGAGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGA CCGTGGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18973.hp1 NA18975.hp2 HG02155.hp2 NA18973.hp1 NA18975.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0003 a0002c0001t0020 a0002c0001t0001 a0002c0001t0003 a0002c0001t0020	a0002c0001t0001g0159 a0002c0001t0003g0185 a0002c0001t0020g0127 a0002c0001t0001g0159 a0002c0001t0003g0185 a0002c0001t0020g0127	3	188	0.0160	214	c.80 others(225): Show c.8066_*8067insTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCC ACGGTCTCTCTCTCCCTCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3668		chr8	TogoVar
SMAD2_chr18_47803957_47935659	47850314	A A	ATATATTA others(207): Show ATATATTATGTATAATATATATTATGTATAATATGTTATATATATATTAT GTATAATATGTTATATATATTATACATATTATGTATAATATATATTATGT ATAATATATATTATATATTATATATATATTATATATATTATGTATAATAT ATATTATATATTATATATATATTATATATATTATGTATAATATATATTAT ATATTATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20805.hp1 HG00642.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0086 a0001c0001t0014 a0001c0001t0086	a0001c0001t0014g0115 a0001c0001t0086g0116 a0001c0001t0014g0115 a0001c0001t0086g0116	2	310	0.0065	214	c.784 others(229): Show c.784+959_784+960insATATATATATAATATATAATATATATTATA CATAATATATATAATATATATATAATATATAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATATTA TACATAATATGTATAATATATATAACATATTATACATAATATATATATAA CATATTATACATAATATATATTATACATAATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501401	T T	TTATATAT others(207): Show TTATATATTATAGAATATAATATATAATATATTATATATTATAGAATATA ATATATAATATATTATATATTATAGAATATAATATATAATATATTATATA TTATAGAATATAATATATAATATATTATATATTATAGAATATAATATATA ATATATTATATATTATAGAATATAATATATAATATATTATATATTATAGA ATATAATATATAATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	340	0.0029	214	c.17 others(233): Show c.174+9477_*174+9478insTATTATATATTATATTCTATAATATA TAATATATTATATATTATATTCTATAATATATAATATATTATATATTATA TTCTATAATATATAATATATTATATATTATATTCTATAATATATAATATA TTATATATTATATTCTATAATATATAATATATTATATATTATATTCTATA ATATATAATATATTATATATTATATTCTATAATATATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNX6_chr14_34556093_34635148	34557531	T T	TCTTCTTC others(207): Show TCTTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	322	0.0031	214	c.55 others(225): Show c.5590_*5591insGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAAAGAAGAAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3561		chr14	TogoVar

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Search Results (Total: 10000 hits)