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
ROBO1_chr3_78592239_79772998	78637062	TTACAATG others(40): Show TTACAATGGTAAAAATGTCATTATTTTATGCATGTTGTCCAAAAGTGG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02717.hp1 others(5): Show HG01243.hp2 HG02109.hp2 HG02717.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0016 a0001c0005t0002 a0001c0005t0005	a0001c0001t0002g0039 a0001c0001t0005g0005 a0001c0001t0005g0035 others(5): Show a0001c0001t0002g0039 a0001c0001t0005g0005 a0001c0001t0005g0035 a0001c0001t0010g0034 a0001c0002t0016g0044 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0005g0004	8	44	0.1818	-47	c.303 others(65): Show c.3038-1001_3038-955delCCACTTTTGGACAACATGCATAAAATA ATGACATTTTTACCATTGTA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	22/30			chr3	TogoVar
RORA_chr15_60483284_61234302	60947033	CCCGGCCA others(40): Show CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCCAGCCCCCGA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01168.hp2 others(19): Show HG00735.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG02004.hp2 HG02055.hp2 HG02165.hp1 HG02258.hp1 HG02451.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG03209.hp2 HG03486.hp2 HG03669.hp1 NA19003.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0034 a0001c0001t0038 a0001c0001t0042 a0001c0001t0052 a0001c0003t0015 a0001c0003t0027 a0001c0005t0004	a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0058 others(19): Show a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0005g0019 a0001c0001t0006g0029 a0001c0001t0007g0057 a0001c0001t0008g0033 a0001c0001t0016g0050 a0001c0001t0016g0051 a0001c0001t0017g0014 a0001c0001t0020g0040 a0001c0001t0022g0117 a0001c0001t0032g0037 a0001c0001t0034g0055 a0001c0001t0038g0044 a0001c0001t0042g0112 a0001c0001t0052g0002 a0001c0003t0015g0077 a0001c0003t0027g0039 a0001c0005t0004g0024 a0001c0005t0004g0107	22	118	0.1864	-47	c.167 others(68): Show c.167-268394_167-268348delTCGGGGGCTGGCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60947048	CGTCCGGG others(40): Show CGTCCGGGAGGGAGGTGGGGGGCCAGCCCCCGACCGGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0009 a0001c0001t0039g0009	1	118	0.0085	-47	c.167 others(68): Show c.167-268409_167-268363delAGGGCGGCTGGCCGGTCGGGGGCT GGCCCCCCACCTCCCTCCCGGAC	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	299990	CAGGGGCT others(40): Show CAGGGGCTGGCCCAGCCTAGGCCTGCAGAATCTCCCACCCACTCTAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01167.hp2 others(8): Show HG00099.hp2 HG00140.hp2 HG01167.hp2 HG01243.hp2 HG01258.hp2 HG02055.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 a0001c0001t0027 a0001c0001t0031 a0001c0002t0006 a0001c0002t0029	a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0002g0116 others(8): Show a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0002g0116 a0001c0001t0006g0105 a0001c0001t0009g0094 a0001c0001t0016g0093 a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0001t0031g0067 a0001c0002t0006g0060 a0001c0002t0029g0103	11	133	0.0827	-47	c.352 others(66): Show c.352-18183_352-18137delTCTAGAGTGGGTGGGAGATTCTGCAG GCCTAGGCTGGGCCAGCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	300682	GCTCTAGC others(40): Show GCTCTAGCAGGGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG01070.hp2 others(1): Show HG00280.hp1 HG00408.hp1 HG01070.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0002t0009g0126	4	133	0.0301	-47	c.351 others(66): Show c.351+18691_351+18737delTGGGTGAGAGATTCTGCAGGTCTAGG CTGGGCCAGCCCCTGCTAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	300768	CACCCGCT others(40): Show CACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGGCCCGCAGAATCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp1 HG02055.hp2 others(4): Show HG01243.hp2 HG01358.hp1 HG02055.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 a0001c0001t0031 a0001c0002t0006	a0001c0001t0001g0089 a0001c0001t0003g0098 a0001c0001t0006g0105 others(4): Show a0001c0001t0001g0089 a0001c0001t0003g0098 a0001c0001t0006g0105 a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0001t0031g0067 a0001c0002t0006g0060	7	133	0.0526	-47	c.351 others(66): Show c.351+18605_351+18651delAAGAGATTCTGCGGGCCTAGGCTGGG CCAGCCCCTGCTAGAGCGGGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	321694	ACAAGGCA others(40): Show ACAAGGCACATGGGCAACAGAGACGGCCCAGGTGCCGTGTGCAGGGGG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19074.hp2 NA19004.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0012g0005 a0001c0001t0012g0006	2	133	0.0150	-47	c.78- others(60): Show c.78-326_78-280delCCCCCTGCACACGGCACCTGGGCCGTCTCTGT TGCCCATGTGCCTTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9			chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166449803	GGGACCAC others(40): Show GGGACCACCATGGGAACCACCACAGGGACCACCACGGGACAACCACGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0102 a0001c0056t0001g0102	1	244	0.0041	-47	c.120 others(65): Show c.1207-1001_1207-955delTCGTGGTTGTCCCGTGGTGGTCCCTGT GGTGGTTCCCATGGTGGTCC	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	13/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166618996	AATCGATG others(40): Show AATCGATGCCATCAGATTCGCGCACCAGCCCTGTGCATATGGGCTCCC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02922.hp1 others(2): Show HG02055.hp2 HG02451.hp1 HG02922.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0015 a0001c0018 a0001c0030 others(1): Show a0001c0015 a0001c0018 a0001c0030 a0001c0036	a0001c0015t0004 a0001c0018t0006 a0001c0018t0019 others(2): Show a0001c0015t0004 a0001c0018t0006 a0001c0018t0019 a0001c0030t0017 a0001c0036t0002	a0001c0015t0004g0050 a0001c0018t0006g0049 a0001c0018t0019g0052 others(2): Show a0001c0015t0004g0050 a0001c0018t0006g0049 a0001c0018t0019g0052 a0001c0030t0017g0053 a0001c0036t0002g0051	5	244	0.0205	-47	c.99+ others(62): Show c.99+7878_99+7924delGGGAGCCCATATGCACAGGGCTGGTGCGCG AATCTGATGGCATCGAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RRAS2_chr11_14272922_14364183	14274253	AAAGCCCA others(40): Show AAAGCCCAAGATGACACTTACAATCTGGCCCTTTATGAAAAAATTTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	279	0.0036	-47	c.50 others(58): Show c.5037_*5083delGCAAATTTTTTCATAAAGGGCCAGATTGTAAGTG TCATCTTGGGCTT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding		3668		chr11	TogoVar
SCARF1_chr17_1628858_1650732	1638588	TCCATCAC others(40): Show TCCATCACCTCTGACCTACGTGGGCGACAAGGCCAGCCCTCCCCACCC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	401	0.0025	-47	c.136 others(64): Show c.1364+171_1364+217delGGGTGGGGAGGGCTGGCCTTGTCGCCCA CGTAGGTCAGAGGTGATGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCGB3A2_chr5_147873711_147887191	147886224	AGAGATCC others(40): Show AGAGATCCTTATGAGGACAGAAATATTCTGTGTTTTACCTGTATCAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-47	c.41 others(58): Show c.4175_*4221delGAGATCCTTATGAGGACAGAAATATTCTGTGTTT TACCTGTATCAAT	SCGB3A2	ENSG00000164265.9	transcript	ENST00000296694.5	protein_coding		4034		chr5	TogoVar
SCML4_chr6_107697154_107829313	107803367	TGGGAGGG others(40): Show TGGGAGGGAGGTGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCATCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18957.hp2 NA18973.hp2 others(1): Show HG00544.hp1 NA18957.hp2 NA18973.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0002t0009 a0001c0005t0011 others(1): Show a0001c0001t0003 a0001c0002t0009 a0001c0005t0011 a0001c0005t0030	a0001c0001t0003g0080 a0001c0002t0009g0078 a0001c0005t0011g0081 others(1): Show a0001c0001t0003g0080 a0001c0002t0009g0078 a0001c0005t0011g0081 a0001c0005t0030g0079	4	250	0.0160	-47	c.-60 others(66): Show c.-60+20712_-60+20758delGGATGGGGCGGCTGGCCGGGCGAGGG GCTGACCCCCACCTCCCTCCC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCNN1B_chr16_23297302_23386294	23385995	CCCACCAC others(40): Show CCCACCACCAAGCCCAGATAATTTTTAAAAATTTTTTATAGAGATGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	306	0.0033	-47	c.51 others(58): Show c.5195_*5241delCCACCACCAAGCCCAGATAATTTTTAAAAATTTT TTATAGAGATGAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding		4702		chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289843	CCGTGTCC others(40): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02818.hp2 HG02683.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0246 a0002c0003t0002g0082 a0001c0001t0001g0246 a0002c0003t0002g0082	2	290	0.0069	-47	c.166 others(64): Show c.1663-426_1663-380delGTGTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280971	CCTGTCAC others(40): Show CCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0005 a0005c0016t0022 a0005c0016t0005 a0005c0016t0022	a0005c0016t0005g0021 a0005c0016t0022g0020 a0005c0016t0005g0021 a0005c0016t0022g0020	2	280	0.0071	-47	c.484 others(66): Show c.484+10028_484+10074delAAGGGTGGCCAAGGGAGGTGACAGGG TGACTGAGGAGGAGGTGACAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDF2_chr17_28643346_28666906	28661583	GTTCTCCG others(40): Show GTTCTCCGACTCTCTAGACCTGAGGAACCTTCCCAGGGAACCCCTAAC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0186 a0003c0005t0004g0186	1	398	0.0025	-47	c.151 others(61): Show c.151+96_151+142delGTTAGGGGTTCCCTGGGAAGGTTCCTCAGGT CTAGAGAGTCGGAGAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding	1/2			chr17	TogoVar
SEC24C_chr10_73739372_73777161	73749471	ATAAGATA others(40): Show ATAAGATAATACTAATCTGATGCTGTTCTAGGTTCAGTGTTTGGCTTT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	322	0.0031	-47	c.173 others(64): Show c.173-1633_173-1587delGATAATACTAATCTGATGCTGTTCTAGG TTCAGTGTTTGGCTTTTAA	SEC24C	ENSG00000176986.16	transcript	ENST00000345254.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
SENP1_chr12_48037897_48111079	48100840	TGGTTATA others(40): Show TGGTTATAAGGATTAAATGAACCAATATATTTTAAATACTTAGAACAG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0313 a0001c0001t0004g0313	1	394	0.0025	-47	c.4+5 others(58): Show c.4+582_4+628delCTGTTCTAAGTATTTAAAATATATTGGTTCATTT AATCCTTATAACC	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	2/17			chr12	TogoVar
SEPHS1_chr10_13312428_13353293	13325899	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGACTCAGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02630.hp2 others(3): Show HG02257.hp1 HG02451.hp1 HG02630.hp2 HG02896.hp1 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0081 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0081 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197	6	378	0.0159	-47	c.751 others(64): Show c.751+2405_751+2451delGAGACTGAGTCTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding	7/8			chr10	TogoVar
SEPHS1_chr10_13312428_13353293	13325918	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp2 HG02717.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0183 a0001c0001t0001g0082 a0001c0001t0001g0183	2	378	0.0053	-47	c.751 others(64): Show c.751+2386_751+2432delATTTTTTTTTTTTTTTTTTGAGACTGAG TCTCTTTTTTTTTTTTTTT	SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding	7/8			chr10	TogoVar
SEPTIN7_chr7_35796057_35912110	35838316	CCCTCCCT others(40): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0044 a0001c0001t0013g0044	1	346	0.0029	-47	c.169 others(64): Show c.169+5444_169+5490delCCCTCCCTCCCTCCCTCCCTCCTCCCTC CCTCCCTCCCTCCCTCCCT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERGEF_chr11_17783048_18018047	17896854	AAGGGAAG others(40): Show AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	226	0.0044	-47	c.101 others(68): Show c.1012-18657_1012-18611delCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERPINA10_chr14_94275460_94298268	94276529	TGGTAAAA others(40): Show TGGTAAAAACAGGAGCAGGAGAGAGAAAGTGGGGTTGGGGGAGGTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	421	0.0024	-47	c.73 others(58): Show c.7389_*7435delGGCACCTCCCCCAACCCCACTTTCTCTCTCCTGC TCCTGTTTTTACC	SERPINA10	ENSG00000140093.10	transcript	ENST00000261994.9	protein_coding		3930		chr14	TogoVar
SERPINE1_chr7_101122104_101144247	101143515	GAGAAAGA others(40): Show GAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01255.hp2 others(43): Show HG00558.hp1 HG00558.hp2 HG01255.hp2 HG01516.hp2 HG01517.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG03209.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp1 NA18948.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19005.hp1 NA19007.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19240.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0003c0002t0003	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(39): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0314 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0010g0033 a0001c0001t0010g0160 a0001c0001t0010g0166 a0001c0001t0021g0028 a0001c0001t0024g0164 a0001c0001t0025g0086 a0003c0002t0003g0226	46	436	0.1055	-47	c.60 others(58): Show c.6074_*6120delAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAAAGA AAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		4269		chr7	TogoVar
SFMBT2_chr10_7153624_7416034	7191072	TGTGGATC others(40): Show TGTGGATCTGTGAGTCCCTTAAACCTCTTTTCCTTTATAAATTGCCCA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG02300.hp1 HG00741.hp2 HG01192.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0103 a0001c0001t0020g0088 a0001c0001t0020g0129 a0001c0001t0001g0103 a0001c0001t0020g0088 a0001c0001t0020g0129	3	144	0.0208	-47	c.169 others(66): Show c.1699-2386_1699-2340delTGGGCAATTTATAAAGGAAAAGAGGT TTAAGGGACTCACAGATCCAC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	15/20			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50562322	GACAAACA others(40): Show GACAAACACTCTCTGAGTGTGTGTGTGTGTGTGTGCGCGCGCGCACAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03492.hp2 NA21309.hp1 HG02109.hp2 HG03492.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0110 a0001c0002t0001g0306 a0001c0002t0003g0220 a0001c0002t0001g0110 a0001c0002t0001g0306 a0001c0002t0003g0220	3	312	0.0096	-47	c.-58 others(68): Show c.-589+27784_-589+27830delGTGTGCGCGCGCGCACACACACAC ACACACACTCAGAGAGTGTTTGT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SH3BP5L_chr1_248805446_248830915	248829750	TCTCCCCT others(40): Show TCTCCCCTCTCTCCTCTCCCCTCTCCCCTGCACGGTCTCCCTCTGATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(204): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0150 a0001c0001t0002g0002 a0001c0001t0002g0010 others(96): Show a0001c0001t0001g0150 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0119 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0004g0161 a0001c0001t0005g0011 a0001c0001t0005g0019 a0001c0001t0005g0054 a0001c0001t0005g0061 a0001c0001t0005g0063 a0001c0001t0006g0021 a0001c0001t0006g0055 a0001c0001t0006g0096 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0007g0178 a0001c0001t0007g0180 a0001c0001t0008g0022 a0001c0001t0008g0118 a0001c0001t0012g0036 a0001c0001t0016g0102 a0001c0001t0017g0087 a0001c0001t0019g0132	207	412	0.5024	-47	c.-43 others(58): Show c.-4394_-4348delCATCAGAGGGAGACCGTGCAGGGGAGAGGGGAGA GGAGAGAGGGGAG	SH3BP5L	ENSG00000175137.11	transcript	ENST00000366472.6	protein_coding		3836		chr1	TogoVar
SHROOM4_chrX_50581796_50819194	50618379	CCTTCCTT others(40): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	175	0.0057	-47	c.295 others(66): Show c.2957+9188_2957+9234delAAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIGIRR_chr11_400716_419999	401950	CCCCCGGC others(40): Show CCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0024 a0003c0008t0001g0024	1	242	0.0041	-47	c.38 others(58): Show c.3899_*3945delAGCCGGGGGTGAGCGGGGCCGGGGGTCGGGGGTG AGCGGGGCCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3765		chr11	TogoVar
SIGIRR_chr11_400716_419999	402186	CGGCCCCG others(40): Show CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG03831.hp2 HG00423.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0008 a0001c0003 a0003c0008	a0001c0003t0001 a0003c0008t0001 a0001c0003t0001 a0003c0008t0001	a0001c0003t0001g0027 a0003c0008t0001g0024 a0001c0003t0001g0027 a0003c0008t0001g0024	2	242	0.0083	-47	c.36 others(58): Show c.3663_*3709delCGGGGTGAGCGGGGCCGGGGTCAGTGGAGCCGGG GGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3529		chr11	TogoVar
SIGIRR_chr11_400716_419999	402419	CGGCCCCG others(40): Show CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18986.hp2 NA18966.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0164 a0001c0001t0001g0173	2	242	0.0083	-47	c.34 others(58): Show c.3430_*3476delCGGGGTGAGCGGGGCCGGGGTCAGTGGAGCCGGG GGTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3296		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412599	GAAAGAAA others(40): Show GAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0269 a0002c0002t0014g0269	1	320	0.0031	-47	c.116 others(66): Show c.1167+8144_1167+8190delTCTTTCTTTTCTTTCTTTCTTTCCTT CTTTCTTTCCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00642.hp1 others(16): Show HG00280.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01175.hp1 HG01192.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG02602.hp2 HG02735.hp1 HG03017.hp1 HG03195.hp1 HG03579.hp1 HG03710.hp1 HG04228.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0132 others(14): Show a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0012g0143	19	376	0.0505	-47	c.177 others(64): Show c.177-3572_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC15A5_chr12_16183485_16282685	16205557	TATTCCAT others(40): Show TATTCCATAAGAAGGGAAAGGTGCATATATATATACATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0224 a0017c0029t0001g0224	1	324	0.0031	-47	c.148 others(68): Show c.1484-11151_1484-11105delGTGTGTGTATATGTATATATATAT GCACCTTTCCCTTCTTATGGAAT	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	7/8			chr12	TogoVar
SLC16A3_chr17_82224042_82245086	82227638	GAGCACCA others(40): Show GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02818.hp2 others(5): Show HG02257.hp2 HG02622.hp1 HG02818.hp2 HG03490.hp1 HG03492.hp2 HG04184.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0300 a0001c0001t0001g0301	8	410	0.0195	-47	c.-14 others(58): Show c.-1494_-1448delAGCACCACCTGCCCTGGGCGGGAGCACCACCTGC CCTGGGCGGGAGC	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1403		chr17	TogoVar
SLC17A6_chr11_22333381_22384503	22339119	ATATATAT others(40): Show ATATATATATGTTATATATATATGTTATATATAGTTATATATATATGT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0346 a0001c0003t0008g0346	1	450	0.0022	-47	c.86+ others(60): Show c.86+510_86+556delGTTATATATATATGTTATATATAGTTATATAT ATATGTTATATATAT	SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A2_chr9_19502455_19794037	19563716	AATCTGTA others(40): Show AATCTGTAACAAAACTGTTGGTTTTTATAATGACCCTTCCTTCCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02572.hp1 HG06807.hp2 others(2): Show HG00673.hp1 HG02572.hp1 HG06807.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0011 a0001c0001t0024 a0001c0001t0076 others(2): Show a0001c0001t0011 a0001c0001t0024 a0001c0001t0076 a0001c0003t0075 a0001c0005t0009	a0001c0001t0011g0182 a0001c0001t0024g0159 a0001c0001t0076g0077 others(2): Show a0001c0001t0011g0182 a0001c0001t0024g0159 a0001c0001t0076g0077 a0001c0003t0075g0151 a0001c0005t0009g0005	5	188	0.0266	-47	c.134 others(66): Show c.1347+9588_1347+9634delGAAAGGAAGGAAGGGTCATTATAAAA ACCAACAGTTTTGTTACAGAT	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	7/10			chr9	TogoVar
SLC26A11_chr17_80215427_80258500	80254249	TTTCCTTC others(40): Show TTTCCTTCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCTTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(123): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01255.hp2 HG01256.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18960.hp2 NA18968.hp1 NA18974.hp1 NA18980.hp1 NA18983.hp1 NA18987.hp2 NA19000.hp1 NA19001.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0007 a0009 a0012 a0013 a0014	a0001c0001 a0001c0003 a0003c0006 others(6): Show a0001c0001 a0001c0003 a0003c0006 a0006c0009 a0007c0010 a0009c0023 a0012c0020 a0013c0015 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0022 a0001c0003t0001 a0003c0006t0003 a0006c0009t0001 a0007c0010t0002 a0009c0023t0003 a0012c0020t0003 a0013c0015t0001 a0014c0017t0003	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(102): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0003g0068 a0001c0001t0003g0077 a0001c0001t0003g0097 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0288 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0278 a0001c0001t0005g0280 a0001c0001t0012g0279 a0001c0001t0012g0281 a0001c0001t0022g0015 a0001c0003t0001g0239 a0003c0006t0003g0286 a0003c0006t0003g0289 a0003c0006t0003g0293 a0006c0009t0001g0009 a0006c0009t0001g0023 a0007c0010t0002g0096 a0007c0010t0002g0113 a0009c0023t0003g0275 a0012c0020t0003g0268 a0013c0015t0001g0235 a0014c0017t0003g0104	126	366	0.3443	-47	c.15 others(58): Show c.1534_*1580delTTCCTTCCTTCCTTCCCTTCCTTTCCTTCCTTCC TTCCTTTCTTTCC	SLC26A11	ENSG00000181045.15	transcript	ENST00000361193.8	protein_coding		750		chr17	TogoVar
SLC28A1_chr15_84879662_84950798	84928581	TCTTTCTT others(40): Show TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0004 a0001c0012t0004 a0001c0004t0004 a0001c0012t0004	a0001c0004t0004g0390 a0001c0012t0004g0374 a0001c0012t0004g0375 a0001c0004t0004g0390 a0001c0012t0004g0374 a0001c0012t0004g0375	3	396	0.0076	-47	c.108 others(66): Show c.1083+4472_1084-4517delCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTCTTTTCTTTCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC43A3_chr11_57401954_57432121	57403503	AGAAAAGA others(40): Show AGAAAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	330	0.0030	-47	c.42 others(58): Show c.4242_*4288delCTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCT TCCTCTTCTTTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3450		chr11	TogoVar
SLIT3_chr5_168656740_169306139	168746616	TAGTATGG others(40): Show TAGTATGGTGGTGTGGTGGTGTGTAGTGGTGTGGGTGTGTGGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01496.hp1 others(4): Show HG00639.hp2 HG01106.hp1 HG01496.hp1 HG01993.hp1 HG02027.hp2 HG02109.hp1 NA20805.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0010 a0001c0016 a0001c0017 others(2): Show a0001c0010 a0001c0016 a0001c0017 a0003c0057 a0007c0035	a0001c0010t0008 a0001c0016t0008 a0001c0016t0038 others(3): Show a0001c0010t0008 a0001c0016t0008 a0001c0016t0038 a0001c0017t0001 a0003c0057t0020 a0007c0035t0004	a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0016t0008g0080 others(4): Show a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0016t0008g0080 a0001c0016t0038g0132 a0001c0017t0001g0029 a0003c0057t0020g0096 a0007c0035t0004g0049	7	132	0.0530	-47	c.227 others(66): Show c.2270+1639_2270+1685delCACACACCACACACCCACACCACTAC ACACCACCACACCACCATACT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLMAP_chr3_57751309_57935003	57934425	AATACTTT others(40): Show AATACTTTTGCCAAAATTAGGTGGTAAATACATATGTGCTATGTGCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	310	0.0032	-47	c.71 others(58): Show c.7137_*7183delATACTTTTGCCAAAATTAGGTGGTAAATACATAT GTGCTATGTGCAC	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding		4423		chr3	TogoVar
SMIM10L1_chr12_11166194_11181016	11168200	CGAAAGAA others(40): Show CGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01928.hp2 HG00438.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	397	0.0050	-47	c.-31 others(58): Show c.-3156_-3110delGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2993		chr12	TogoVar
SMYD3_chr1_245744347_246512279	245992713	CCCACTTC others(40): Show CCCACTTCTAGAATGGCGGTCATGGGGCCTGGAGTGGTCATGGATCGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03098.hp1 HG00735.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0013 a0001c0006t0001g0048 a0001c0002t0001g0013 a0001c0006t0001g0048	2	150	0.0133	-47	c.532 others(66): Show c.532-62823_532-62777delCCGATCCATGACCACTCCAGGCCCCA TGACCGCCATTCTAGAAGTGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478481	GGTGCTCA others(40): Show GGTGCTCATATATGCACACCTGTCCTCTGTCCTGGAGCTGGTACATAA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	150	0.0067	-47	c.164 others(66): Show c.164+28526_164+28572delTTATGTACCAGCTCCAGGACAGAGGA CAGGTGTGCATATATGAGCAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478593	CCTGTCCT others(40): Show CCTGTCCTCTGTCCTGGAGCTGGTACGTAAGTGCTCATATATGTACAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp2 HG02970.hp1 others(2): Show HG01243.hp2 HG02895.hp2 HG02970.hp1 HG03209.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001	a0002c0003t0001g0144 a0002c0003t0002g0116 a0002c0003t0002g0145 others(2): Show a0002c0003t0001g0144 a0002c0003t0002g0116 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0005t0001g0146	5	150	0.0333	-47	c.164 others(66): Show c.164+28414_164+28460delATGTACATATATGAGCACTTACGTAC CAGCTCCAGGACAGAGGACAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0099 a0001c0004t0001g0099	1	380	0.0026	-47	c.-32 others(58): Show c.-3245_-3199delGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGT CCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403393	AGGGAGCA others(40): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG02280.hp1 others(6): Show HG01074.hp2 HG01109.hp2 HG02280.hp1 HG02615.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 NA19043.hp2	a0001 a0006 a0035 a0001 a0006 a0035	a0001c0001 a0006c0009 a0035c0022 a0001c0001 a0006c0009 a0035c0022	a0001c0001t0001 a0006c0009t0003 a0035c0022t0003 a0001c0001t0001 a0006c0009t0003 a0035c0022t0003	a0001c0001t0001g0093 a0001c0001t0001g0120 a0006c0009t0003g0049 others(4): Show a0001c0001t0001g0093 a0001c0001t0001g0120 a0006c0009t0003g0049 a0006c0009t0003g0050 a0006c0009t0003g0232 a0006c0009t0003g0233 a0035c0022t0003g0234	9	380	0.0237	-47	c.-33 others(58): Show c.-3316_-3270delAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCC ACCCCTTGCTCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3224		chr9	TogoVar
SND1_chr7_127647194_128097593	128097546	GACCTAAT others(40): Show GACCTAATTGATGTAATTGATGTATGTACAAATGCTGTGGCCTTAGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	262	0.0038	-47	c.54 others(58): Show c.5489_*5535delACCTAATTGATGTAATTGATGTATGTACAAATGC TGTGGCCTTAGCT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding		4954		chr7	TogoVar

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Search Results (Total: 10000 hits)