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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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
SFXN1_chr5_175473560_175534742	175524118	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19009.hp1 NA18985.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0216 a0001c0001t0003g0136 a0001c0001t0003g0216	2	372	0.0054	-25	c.872 others(42): Show c.872+1698_872+1722delAAAAAAATATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524120	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	372	0.0027	-25	c.872 others(42): Show c.872+1700_872+1724delAAAAATATATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCB_chr4_52015706_52043299	52034331	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	368	0.0027	-25	c.34- others(38): Show c.34-716_34-692delTTTTTTTTTTTTTTTTTTTTTTTTT	SGCB	ENSG00000163069.13	transcript	ENST00000381431.10	protein_coding	1/5			chr4	TogoVar
SGCD_chr5_156322164_156772788	156423404	TAATATAA others(18): Show TAATATAATATATTATATTTTAATAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG02055.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0050 a0001c0001t0041 a0001c0002t0050	a0001c0001t0041g0028 a0001c0002t0050g0072 a0001c0001t0041g0028 a0001c0002t0050g0072	2	150	0.0133	-25	c.192 others(44): Show c.192+78741_192+78765delATATTTTAATAAAATATAATATATT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	15146478	GATCCTCC others(18): Show GATCCTCCTGCCTCAGCCCCGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	102	0.0098	-25	c.39+ others(42): Show c.39+91082_39+91106delACTCACGGGGCTGAGGCAGGAGGAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15186262	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0059 a0001c0001t0085g0059	1	102	0.0098	-25	c.39+ others(42): Show c.39+51298_39+51322delTTTTTTTTTTTTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66736402	ATTATATG others(18): Show ATTATATGTGAATATAATATATTGCG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0126 a0002c0002t0044g0126	1	302	0.0033	-25	c.203 others(44): Show c.2031+2524_2031+2548delTATATGTGAATATAATATATTGCGT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134301531	TTCTTCTC others(18): Show TTCTTCTCTTCTCTTCTCTTCTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01106.hp1 HG02083.hp2 others(9): Show HG00621.hp2 HG01106.hp1 HG02083.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03704.hp1 HG04199.hp2 HG06807.hp1 NA18945.hp1 NA18955.hp2 NA18970.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0001c0003t0003 a0006c0012t0003	a0001c0001t0001g0074 a0001c0001t0001g0167 a0001c0001t0001g0178 others(9): Show a0001c0001t0001g0074 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0002g0180 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0005g0181 a0001c0002t0003g0011 a0001c0003t0003g0013 a0006c0012t0003g0009	12	250	0.0480	-25	c.69+ others(42): Show c.69+15836_69+15860delGAAGAGAAGAGAAGAGAAGAGAAGA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66723111	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	142	0.0070	-25	c.-12 others(46): Show c.-122+10280_-122+10304delATATATATATATATATATATTTTT T	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS2_chr4_107819932_107920047	107824877	AGGGAGCG others(18): Show AGGGAGCGGGCCGCGCGCGGCGGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	270	0.0037	-25	c.-70 others(34): Show c.-702_-678delGGGAGCGGGCCGCGCGCGGCGGGCG	SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding		54		chr4	TogoVar
SGPP1_chr14_63679216_63733065	63712771	GATCCTCC others(18): Show GATCCTCCTGAGTAGCTGGGACTATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01175.hp1 others(16): Show HG00280.hp2 HG00642.hp1 HG01175.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG04199.hp1 NA19240.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0005 others(2): Show a0001c0002 a0001c0003 a0002c0005 a0003c0006 a0004c0007	a0001c0002t0002 a0001c0002t0011 a0001c0002t0012 others(5): Show a0001c0002t0002 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0003t0002 a0002c0005t0002 a0003c0006t0002 a0004c0007t0002	a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 others(16): Show a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0012g0015 a0001c0002t0012g0016 a0001c0002t0014g0014 a0001c0003t0002g0040 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0047 a0002c0005t0002g0045 a0002c0005t0002g0046 a0003c0006t0002g0041 a0004c0007t0002g0044	19	288	0.0660	-25	c.685 others(44): Show c.685-14138_685-14114delTATAGTCCCAGCTACTCAGGAGGAT	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2			chr14	TogoVar
SGPP1_chr14_63679216_63733065	63719000	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	288	0.0035	-25	c.684 others(42): Show c.684+8236_684+8260delAAAAAAAAAAATATATATATATATA	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2			chr14	TogoVar
SGPP2_chr2_222419543_222567621	222467950	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03540.hp2 NA20129.hp2 HG02145.hp2 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 a0001c0002 a0001c0003 a0001c0010	a0001c0002t0083 a0001c0003t0051 a0001c0010t0037 a0001c0002t0083 a0001c0003t0051 a0001c0010t0037	a0001c0002t0083g0150 a0001c0003t0051g0247 a0001c0010t0037g0148 a0001c0002t0083g0150 a0001c0003t0051g0247 a0001c0010t0037g0148	3	272	0.0110	-25	c.220 others(42): Show c.220-6604_220-6580delAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGTB_chr5_65660928_65727109	65713935	GGGAGGAT others(18): Show GGGAGGATTGCTTGAGCCTGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp1 HG02897.hp1 others(8): Show HG01109.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0031	a0001c0001t0004g0051 a0001c0001t0007g0010 a0001c0001t0007g0035 others(6): Show a0001c0001t0004g0051 a0001c0001t0007g0010 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0011g0019 a0001c0001t0011g0147 a0001c0001t0011g0148 a0001c0001t0031g0150	11	360	0.0306	-25	c.101 others(40): Show c.101-896_101-872delTCCTCCCAGGCTCAAGCAATCCTCC	SGTB	ENSG00000197860.10	transcript	ENST00000381007.9	protein_coding	2/10			chr5	TogoVar
SH2D4B_chr10_80532902_80651560	80555341	CGCCTACT others(18): Show CGCCTACTGTTCACATTTCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	322	0.0031	-25	c.185 others(44): Show c.185-14790_185-14766delCCTGCCTACTGTTCACATTTCTCTC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572962	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG00642.hp1 HG00741.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0019 a0001c0010t0001 a0001c0010t0019	a0001c0010t0001g0020 a0001c0010t0019g0021 a0001c0010t0001g0020 a0001c0010t0019g0021	2	322	0.0062	-25	c.495 others(42): Show c.495+1386_495+1410delATATATATATATATATATATATATT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572970	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	322	0.0031	-25	c.495 others(42): Show c.495+1394_495+1418delATATATATATATATATTTTTTTTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH3BGR_chr21_39446970_39520504	39510437	CACACACA others(18): Show CACACACACACACACACACTGTAGCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG06807.hp2 HG02109.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0099 a0001c0001t0004g0232 a0001c0001t0003g0099 a0001c0001t0004g0232	2	302	0.0066	-25	c.436 others(42): Show c.436-1224_436-1200delTGTAGCTACACACACACACACACAC	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BP4_chr2_234947017_235060714	235010074	CCCCCAAA others(18): Show CCCCCAAACTACTGAGGGTGTATCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(80): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG04184.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0022 a0002c0001 a0002c0016 a0003c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0009 a0001c0006t0001 a0001c0022t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0007 a0002c0001t0012 a0002c0016t0002 a0003c0007t0001	a0001c0002t0001g0061 a0001c0002t0001g0074 a0001c0002t0001g0080 others(80): Show a0001c0002t0001g0061 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0192 a0001c0002t0001g0200 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0311 a0001c0002t0001g0320 a0001c0002t0002g0193 a0001c0002t0002g0228 a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0003g0075 a0001c0002t0003g0240 a0001c0002t0003g0300 a0001c0002t0004g0307 a0001c0003t0001g0054 a0001c0003t0001g0063 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0139 a0001c0003t0001g0157 a0001c0003t0001g0172 a0001c0003t0001g0239 a0001c0003t0001g0244 a0001c0003t0001g0310 a0001c0003t0002g0164 a0001c0003t0002g0190 a0001c0003t0002g0205 a0001c0003t0004g0138 a0001c0004t0009g0082 a0001c0006t0001g0105 a0001c0006t0001g0204 a0001c0022t0002g0295 a0002c0001t0001g0047 a0002c0001t0001g0117 a0002c0001t0001g0155 a0002c0001t0001g0159 a0002c0001t0001g0189 a0002c0001t0001g0201 a0002c0001t0001g0227 a0002c0001t0001g0233 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0309 a0002c0001t0001g0327 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0002g0062 a0002c0001t0002g0081 a0002c0001t0002g0097 a0002c0001t0002g0171 a0002c0001t0002g0180 a0002c0001t0002g0188 a0002c0001t0002g0194 a0002c0001t0002g0209 a0002c0001t0002g0245 a0002c0001t0002g0247 a0002c0001t0002g0274 a0002c0001t0002g0292 a0002c0001t0002g0303 a0002c0001t0002g0308 a0002c0001t0002g0328 a0002c0001t0004g0156 a0002c0001t0007g0314 a0002c0001t0012g0242 a0002c0016t0002g0050 a0003c0007t0001g0154 a0003c0007t0001g0181	83	348	0.2385	-25	c.-13 others(46): Show c.-133+14703_-133+14727delAAACTACTGAGGGTGTATCATCCC C	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3GLB1_chr1_86699576_86753184	86724879	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	318	0.0031	-25	c.570 others(40): Show c.570+476_570+500delAAAAAAAAAAAAATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19737353	CCTGGGAT others(18): Show CCTGGGATGTCAATAAGTGGGTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	204	0.0049	-25	c.286 others(42): Show c.286+8940_286+8964delAGGGACCCACTTATTGACATCCCAG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	3/17			chrX	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439256	AAAAAAAA others(18): Show AAAAAAAACAAAAACAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03927.hp2 HG04184.hp2 others(1): Show HG02273.hp1 HG03927.hp2 HG04184.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 a0001c0001t0058	a0001c0001t0001g0170 a0001c0001t0008g0131 a0001c0001t0041g0120 others(1): Show a0001c0001t0001g0170 a0001c0001t0008g0131 a0001c0001t0041g0120 a0001c0001t0058g0180	4	280	0.0143	-25	c.75+ others(42): Show c.75+14997_75+15021delGTTTTGTTTTTGTTTTTGTTTTTTT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172454663	ACCCCGCC others(18): Show ACCCCGCCGGCCACGTCCGGCCCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0042 a0010c0019t0042	a0010c0019t0042g0102 a0010c0019t0042g0102	1	280	0.0036	-25	c.-33 others(34): Show c.-336_-312delCGGGGGCCGGACGTGGCCGGCGGGG	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		139		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109170239	TTTCTTTT others(18): Show TTTCTTTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp2 HG00738.hp2 others(17): Show HG00423.hp2 HG00735.hp2 HG00738.hp2 HG02074.hp1 HG02132.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02717.hp2 HG02886.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 NA19054.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0012 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0001t0028 a0001c0001t0029 a0001c0001t0035 a0001c0001t0044 a0001c0001t0048 a0001c0001t0056 a0001c0003t0001 a0001c0003t0032 a0001c0008t0012 a0002c0012t0004 a0003c0009t0038	a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0035 others(17): Show a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0003g0129 a0001c0001t0004g0047 a0001c0001t0008g0016 a0001c0001t0016g0127 a0001c0001t0016g0128 a0001c0001t0028g0044 a0001c0001t0029g0057 a0001c0001t0035g0030 a0001c0001t0044g0023 a0001c0001t0048g0058 a0001c0001t0056g0153 a0001c0003t0001g0022 a0001c0003t0032g0135 a0001c0008t0012g0150 a0002c0012t0004g0172 a0003c0009t0038g0029	20	172	0.1163	-25	c.573 others(44): Show c.573+40131_573+40155delTTTCTCTTCTCTTCTCTTCTCTTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109170244	TTTCTCTT others(18): Show TTTCTCTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp2 NA19240.hp1 HG02559.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0014 a0001c0003t0068 a0001c0021t0049 a0001c0003t0014 a0001c0003t0068 a0001c0021t0049	a0001c0003t0014g0076 a0001c0003t0068g0075 a0001c0021t0049g0138 a0001c0003t0014g0076 a0001c0003t0068g0075 a0001c0021t0049g0138	3	172	0.0174	-25	c.573 others(44): Show c.573+40178_573+40202delTCTCTTCTCTTCTCTTCTCTTCTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109198589	AGCTTCCA others(18): Show AGCTTCCAGCAGGTCTCATTCCCAGT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0087 a0001c0001t0067g0087	1	172	0.0058	-25	c.573 others(44): Show c.573+68478_573+68502delCTTCCAGCAGGTCTCATTCCCAGTG	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC2_chr5_148977150_149068062	148999854	AGAATCCA others(18): Show AGAATCCAAACCCTCTTTGCTTCCCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0127 a0002c0003t0127	a0002c0003t0127g0254 a0002c0003t0127g0254	1	326	0.0031	-25	c.48 others(36): Show c.4832_*4856delAGGGAAGCAAAGAGGGTTTGGATTC	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	17/17	4832		chr5	TogoVar
SH3TC2_chr5_148977150_149068062	149021884	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0044 a0001c0013t0044	a0001c0013t0044g0103 a0001c0013t0044g0103	1	326	0.0031	-25	c.305 others(44): Show c.3053+4663_3053+4687delAAAAAAAAAAAAAAAAAAAAAAAAA	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SH3YL1_chr2_213144_269032	236193	GGCAGCAG others(18): Show GGCAGCAGCATGGGTCAGGGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	360	0.0028	-25	c.292 others(42): Show c.292-1946_292-1922delTGCCTCCCCTGACCCATGCTGCTGC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding	4/9			chr2	TogoVar
SHANK1_chr19_50654255_50724802	50699809	GGAGGGAT others(18): Show GGAGGGATTGGGGCATTAGAGGATTA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	316	0.0032	-25	c.174 others(44): Show c.1748-1878_1748-1854delTAATCCTCTAATGCCCCAATCCCTC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50699965	CTCGGGGC others(18): Show CTCGGGGCATTGGAGGATTGGAGGGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02630.hp2 others(4): Show HG01884.hp1 HG02055.hp2 HG02630.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0001c0011 others(2): Show a0001c0003 a0001c0004 a0001c0011 a0001c0016 a0003c0006	a0001c0003t0003 a0001c0003t0007 a0001c0003t0090 others(4): Show a0001c0003t0003 a0001c0003t0007 a0001c0003t0090 a0001c0004t0015 a0001c0011t0006 a0001c0016t0072 a0003c0006t0101	a0001c0003t0003g0253 a0001c0003t0007g0065 a0001c0003t0090g0067 others(4): Show a0001c0003t0003g0253 a0001c0003t0007g0065 a0001c0003t0090g0067 a0001c0004t0015g0066 a0001c0011t0006g0267 a0001c0016t0072g0069 a0003c0006t0101g0301	7	316	0.0222	-25	c.174 others(44): Show c.1748-2034_1748-2010delTCCCTCCAATCCTCCAATGCCCCGA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50699987	GGGATCGG others(18): Show GGGATCGGGGCATTGGAGGGTTGGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0022 a0001c0009t0022	a0001c0009t0022g0084 a0001c0009t0022g0084	1	316	0.0032	-25	c.174 others(44): Show c.1748-2056_1748-2032delTTCCAACCCTCCAATGCCCCGATCC	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50700298	GAGGGCTC others(18): Show GAGGGCTCGGGGCATTGGAGGATTGA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0100 a0001c0002t0100	a0001c0002t0100g0300 a0001c0002t0100g0300	1	316	0.0032	-25	c.174 others(44): Show c.1747+2144_1747+2168delTCAATCCTCCAATGCCCCGAGCCCT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	12/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707876	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp1 HG01243.hp2 others(22): Show HG01074.hp1 HG01192.hp1 HG01243.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02818.hp2 HG02965.hp2 HG03209.hp1 HG03491.hp1 NA18906.hp1 NA18962.hp2 NA18964.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp2 NA19067.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0011 a0017	a0001c0002 a0001c0003 a0001c0004 others(7): Show a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0002c0001 a0003c0005 a0003c0006 a0006c0023 a0011c0031 a0017c0036	a0001c0002t0007 a0001c0002t0041 a0001c0002t0057 others(21): Show a0001c0002t0007 a0001c0002t0041 a0001c0002t0057 a0001c0002t0095 a0001c0003t0010 a0001c0003t0073 a0001c0004t0008 a0001c0004t0014 a0001c0004t0017 a0001c0004t0028 a0001c0004t0096 a0001c0015t0027 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0009 a0002c0001t0011 a0002c0001t0013 a0002c0001t0021 a0003c0005t0020 a0003c0006t0014 a0006c0023t0012 a0011c0031t0029 a0017c0036t0002	a0001c0002t0007g0269 a0001c0002t0041g0016 a0001c0002t0057g0033 others(22): Show a0001c0002t0007g0269 a0001c0002t0041g0016 a0001c0002t0057g0033 a0001c0002t0095g0070 a0001c0003t0010g0076 a0001c0003t0073g0071 a0001c0004t0008g0062 a0001c0004t0014g0147 a0001c0004t0017g0245 a0001c0004t0028g0274 a0001c0004t0096g0297 a0001c0015t0027g0028 a0002c0001t0001g0111 a0002c0001t0003g0148 a0002c0001t0005g0192 a0002c0001t0005g0219 a0002c0001t0009g0146 a0002c0001t0011g0232 a0002c0001t0013g0150 a0002c0001t0021g0017 a0003c0005t0020g0149 a0003c0006t0014g0212 a0006c0023t0012g0085 a0011c0031t0029g0129 a0017c0036t0002g0294	25	316	0.0791	-25	c.107 others(44): Show c.1078-3387_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHB_chr9_37910898_38074227	37920275	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	330	0.0030	-25	c.134 others(42): Show c.1347-296_1347-272delGTTTTGTTTTGTTTTGTTTTGTTTT	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	5/5			chr9	TogoVar
SHC2_chr19_411589_466033	427455	GGGGGAAT others(18): Show GGGGGAATTGCACACGGCACAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0204 a0002c0004t0001g0204	1	212	0.0047	-25	c.117 others(44): Show c.1175-2249_1175-2225delTTCCCTGTGCCGTGTGCAATTCCCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC2_chr19_411589_466033	427491	ACACGGCA others(18): Show ACACGGCACAGGGAAGGGGAATTGCG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0198 a0002c0004t0001g0198	1	212	0.0047	-25	c.117 others(44): Show c.1175-2285_1175-2261delCGCAATTCCCCTTCCCTGTGCCGTG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC3_chr9_89000771_89183818	89182522	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02622.hp1 others(4): Show HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG02818.hp1 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0012 a0001c0001t0022 others(3): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0022 a0001c0002t0002 a0001c0002t0015 a0001c0002t0017	a0001c0001t0004g0038 a0001c0001t0012g0040 a0001c0001t0012g0041 others(4): Show a0001c0001t0004g0038 a0001c0001t0012g0040 a0001c0001t0012g0041 a0001c0001t0022g0042 a0001c0002t0002g0039 a0001c0002t0015g0043 a0001c0002t0017g0031	7	188	0.0372	-25	c.-40 others(36): Show c.-4087_-4063delATTTTATTTTATTTTATTTTATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding		3705		chr9	TogoVar
SHCBP1L_chr1_182894865_182958166	182924696	GAAAGGAA others(18): Show GAAAGGAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	302	0.0033	-25	c.118 others(44): Show c.1182+4926_1182+4950delTCTTTCTTTCTTTCTTTCTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952174	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	302	0.0033	-25	c.405 others(40): Show c.405+530_405+554delATATATATTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952176	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	302	0.0033	-25	c.405 others(40): Show c.405+528_405+552delATATATATATTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952182	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	302	0.0033	-25	c.405 others(40): Show c.405+522_405+546delATATATATATATATATTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952186	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0064 a0003c0008t0001g0064	1	302	0.0033	-25	c.405 others(40): Show c.405+518_405+542delATATATATATATATATATATTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHFL_chr19_10081317_10098243	10091955	CCCCGTAT others(18): Show CCCCGTATCTGGTGGTCTCAGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01975.hp1 HG03654.hp1 others(2): Show HG01106.hp2 HG01975.hp1 HG03654.hp1 HG03654.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	5	444	0.0113	-25	c.644 others(39): Show c.644-111_644-87delGTATCTGGTGGTCTCAGCTCCTCCC	SHFL	ENSG00000130813.18	transcript	ENST00000253110.16	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
SHH_chr7_155794980_155817463	155806936	CGCCCCCA others(18): Show CGCCCCCACGTTGCCCTCCACTTCTA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(25): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00733.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01978.hp2 HG01981.hp2 HG02145.hp1 HG02155.hp2 HG02735.hp1 HG03239.hp2 HG03688.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 NA18943.hp1 NA18964.hp1 NA18965.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0034 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0069 a0001c0001t0083 a0001c0001t0089 a0001c0001t0101	a0001c0001t0001g0011 a0001c0001t0001g0074 a0001c0001t0002g0029 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0074 a0001c0001t0002g0029 a0001c0001t0002g0089 a0001c0001t0004g0083 a0001c0001t0006g0084 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0008g0086 a0001c0001t0008g0090 a0001c0001t0013g0085 a0001c0001t0018g0078 a0001c0001t0034g0028 a0001c0001t0036g0088 a0001c0001t0042g0049 a0001c0001t0043g0050 a0001c0001t0044g0048 a0001c0001t0045g0052 a0001c0001t0047g0051 a0001c0001t0069g0087 a0001c0001t0083g0081 a0001c0001t0089g0082 a0001c0001t0101g0080	28	414	0.0676	-25	c.301 others(40): Show c.301-404_301-380delTAGAAGTGGAGGGCAACGTGGGGGC	SHH	ENSG00000164690.8	transcript	ENST00000297261.7	protein_coding	1/2			chr7	TogoVar
SHISA9_chr16_12896598_13245416	13140118	TCCCTTCC others(18): Show TCCCTTCCCTTCCCTTCCCTTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0030 a0001c0001t0043g0030	1	214	0.0047	-25	c.692 others(44): Show c.692-63271_692-63247delTCCCTTCCCTTCCCTTCCCTCCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHLD2_chr10_87090206_87196465	87164212	CCTCCCAA others(18): Show CCTCCCAAAGTGCTGAGATTGCAGGT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	340	0.0029	-25	c.163 others(44): Show c.1633+6058_1633+6082delCTCCCAAAGTGCTGAGATTGCAGGT	SHLD2	ENSG00000122376.12	transcript	ENST00000298786.5	protein_coding	4/9			chr10	TogoVar
SHOX_chrX_625791_656584	643260	CTGGGAGA others(18): Show CTGGGAGAGGCTTGGGGACCTGGTGT	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0186 a0002c0005t0186	a0002c0005t0186g0092 a0002c0005t0186g0092	1	220	0.0046	-25	c.634 others(42): Show c.634-1130_634-1106delTGGGAGAGGCTTGGGGACCTGGTGT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	4/4			chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9783405	GGATTCTG others(18): Show GGATTCTGCTTCTGAAAATTCCACCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0191 a0002c0013t0002g0191	1	256	0.0039	-25	c.-31 others(36): Show c.-3140_-3116delGATTCTGCTTCTGAAAATTCCACCT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding		3023		chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	GAGAATAG others(18): Show GAGAATAGAATAGAATAGAATAGAAT	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	256	0.0039	-25	c.165 others(42): Show c.165+5426_165+5450delGAATAGAATAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar

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