Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
SERPINB7_chr18_63770418_63810370	63785912	CACATATA others(16): Show CACATATATAATATACGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(120): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01123.hp2 HG01243.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0003 a0005c0007 others(1): Show a0001c0001 a0001c0003 a0005c0007 a0007c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0003t0005 a0005c0007t0002 a0007c0009t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 others(111): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0095 a0001c0001t0002g0112 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0338 a0001c0001t0002g0369 a0001c0001t0002g0382 a0001c0001t0002g0391 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0123 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0183 a0001c0001t0003g0262 a0001c0001t0003g0286 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0049 a0001c0001t0007g0005 a0001c0001t0007g0041 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0050 a0001c0001t0007g0062 a0001c0001t0009g0020 a0001c0001t0009g0263 a0001c0001t0009g0393 a0001c0001t0011g0260 a0001c0001t0014g0394 a0001c0001t0018g0003 a0001c0001t0020g0120 a0001c0001t0022g0150 a0001c0003t0005g0401 a0005c0007t0002g0013 a0005c0007t0002g0138 a0007c0009t0002g0159	123	432	0.2847	-23	c.168 others(40): Show c.168+3376_168+3398delTATATAATATACGTATATATACA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101143527	GAGAAAGA others(16): Show GAGAAAGAAAGAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01243.hp1 HG02080.hp1 others(13): Show HG00408.hp1 HG01243.hp1 HG02080.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG03130.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18960.hp2 NA18989.hp2 NA18992.hp1 NA19055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0035 a0003c0002t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0078 others(12): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0221 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0285 a0001c0001t0003g0362 a0001c0001t0012g0260 a0001c0001t0035g0257 a0003c0002t0002g0045 a0003c0002t0002g0271 a0003c0002t0002g0322 a0003c0002t0002g0323	16	436	0.0367	-23	c.60 others(34): Show c.6086_*6108delAGAAAGAAAGAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		4281		chr7	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0128 a0002c0002t0019g0128	1	140	0.0071	-23	c.486 others(40): Show c.486+1540_486+1562delTTTTTTTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44989885	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show HG01167.hp2 HG01496.hp1 HG02486.hp1 HG02615.hp2 HG02895.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0012t0003 a0001c0001t0001 a0001c0001t0002 a0001c0012t0003	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0002g0026 a0001c0012t0003g0069	9	140	0.0643	-23	c.400 others(44): Show c.4000+36546_4000+36568delAAAAAAAAAAAAAAAAAAAAAAT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5			chr18	TogoVar
SETD1A_chr16_30952754_30989664	30958355	GTGGCCGG others(16): Show GTGGCCGGGCTCGGCCCGGGCCGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0063 a0001c0001t0002g0064	2	274	0.0073	-23	c.-15 others(38): Show c.-15-354_-15-332delGCTCGGCCCGGGCCGCTGGCCGG	SETD1A	ENSG00000099381.20	transcript	ENST00000262519.14	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD5_chr3_9392615_9483154	9426212	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02258.hp2 others(24): Show HG01081.hp2 HG02055.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(7): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0033 a0001c0001t0038 a0001c0001t0057	a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0119 others(24): Show a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0119 a0001c0001t0006g0164 a0001c0001t0006g0176 a0001c0001t0006g0236 a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0008g0162 a0001c0001t0008g0163 a0001c0001t0008g0166 a0001c0001t0009g0234 a0001c0001t0012g0112 a0001c0001t0012g0116 a0001c0001t0012g0121 a0001c0001t0012g0233 a0001c0001t0017g0155 a0001c0001t0017g0156 a0001c0001t0017g0161 a0001c0001t0021g0118 a0001c0001t0021g0120 a0001c0001t0024g0117 a0001c0001t0024g0157 a0001c0001t0033g0165 a0001c0001t0038g0235 a0001c0001t0057g0178	27	240	0.1125	-23	c.-11 others(42): Show c.-117+1687_-117+1709delCTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22			chr3	TogoVar
SETD7_chr4_139501038_139561219	139545959	ATGGTCAC others(16): Show ATGGTCACTCTTTGCTCCTGAAGC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0262 a0001c0001t0016g0262	1	316	0.0032	-23	c.170 others(38): Show c.170+938_170+960delGCTTCAGGAGCAAAGAGTGACCA	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SETD7_chr4_139501038_139561219	139558692	TGCGGGGT others(16): Show TGCGGGGTCAAACTACAGAGAACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	316	0.0032	-23	c.-25 others(34): Show c.-2578_-2556delGGTTCTCTGTAGTTTGACCCCGC	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding		2474		chr4	TogoVar
SETX_chr9_132256356_132359986	132278437	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0028 a0028	a0028c0051 a0028c0051	a0028c0051t0026 a0028c0051t0026	a0028c0051t0026g0219 a0028c0051t0026g0219	1	362	0.0028	-23	c.665 others(40): Show c.6655-203_6655-181delAAAAAAAAAAAAAAAAAAAAAAA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	20/25			chr9	TogoVar
SETX_chr9_132256356_132359986	132302660	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAGCAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0157 a0010c0011t0001g0157	1	362	0.0028	-23	c.537 others(42): Show c.5375-1880_5375-1858delTTGCTTTTTTTTTTTTTTTTTTT	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	11/25			chr9	TogoVar
SFMBT2_chr10_7153624_7416034	7393011	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02486.hp1 others(17): Show HG01081.hp1 HG01884.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0003t0006 a0001c0006t0006 a0001c0010t0027	a0001c0001t0001g0011 a0001c0001t0001g0070 a0001c0001t0002g0007 others(17): Show a0001c0001t0001g0011 a0001c0001t0001g0070 a0001c0001t0002g0007 a0001c0001t0005g0027 a0001c0001t0007g0002 a0001c0001t0007g0017 a0001c0001t0010g0003 a0001c0001t0013g0008 a0001c0001t0013g0116 a0001c0001t0036g0019 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0002g0016 a0001c0002t0011g0015 a0001c0003t0006g0005 a0001c0003t0006g0006 a0001c0003t0006g0014 a0001c0003t0006g0018 a0001c0006t0006g0013 a0001c0010t0027g0026	20	144	0.1389	-23	c.-51 others(42): Show c.-51-11085_-51-11063delATATATATATATATATATATATA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20			chr10	TogoVar
SFRP1_chr8_41256962_41314473	41305036	ACTTACCA others(16): Show ACTTACCACAAATTTTGCATTATG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0332 a0002c0002t0003g0332	1	384	0.0026	-23	c.545 others(40): Show c.545-1521_545-1499delCATAATGCAAAATTTGTGGTAAG	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	1/2			chr8	TogoVar
SFRP4_chr7_37900932_37921817	37905486	ATCATCTA others(16): Show ATCATCTATCTATCTATCTGTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG02559.hp1 HG03195.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0010 a0002c0006t0008g0010	2	472	0.0042	-23	c.19 others(34): Show c.1970_*1992delCAGACAGATAGATAGATAGATGA	SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding		445		chr7	TogoVar
SFSWAP_chr12_131706090_131804738	131707770	ATCTTTGA others(16): Show ATCTTTGATATCTTTCTCAAGTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	318	0.0031	-23	c.-34 others(34): Show c.-3459_-3437delTCTTTGATATCTTTCTCAAGTAC	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding		3319		chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796019	AGGGGGAG others(16): Show AGGGGGAGGGGAGGGGAGGGGAGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(5): Show a0000 a0001 a0002 a0004 a0005 a0008 a0010 a0012	a0000c0005 a0001c0001 a0001c0004 others(15): Show a0000c0005 a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0015 a0001c0018 a0001c0019 a0001c0029 a0002c0003 a0002c0027 a0002c0028 a0004c0014 a0005c0016 a0008c0021 a0010c0017 a0012c0030	a0000c0005t0001 a0001c0001t0001 a0001c0001t0002 others(20): Show a0000c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0004t0002 a0001c0006t0001 a0001c0010t0001 a0001c0010t0004 a0001c0011t0002 a0001c0015t0002 a0001c0018t0001 a0001c0019t0001 a0001c0029t0002 a0002c0003t0003 a0002c0003t0004 a0002c0027t0003 a0002c0028t0004 a0004c0014t0001 a0005c0016t0001 a0008c0021t0003 a0010c0017t0001 a0012c0030t0001	a0000c0005t0001g0251 a0001c0001t0001g0003 a0001c0001t0001g0004 others(168): Show a0000c0005t0001g0251 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0139 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0304 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0310 a0001c0001t0003g0018 a0001c0001t0003g0025 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0004g0305 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0011 a0001c0004t0002g0306 a0001c0004t0002g0307 a0001c0006t0001g0014 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0010t0001g0240 a0001c0010t0004g0023 a0001c0011t0002g0080 a0001c0011t0002g0081 a0001c0015t0002g0008 a0001c0018t0001g0015 a0001c0019t0001g0195 a0001c0029t0002g0059 a0002c0003t0003g0001 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0003g0043 a0002c0003t0004g0022 a0002c0003t0004g0024 a0002c0027t0003g0035 a0002c0028t0004g0309 a0004c0014t0001g0272 a0005c0016t0001g0214 a0008c0021t0003g0020 a0010c0017t0001g0209 a0012c0030t0001g0196	177	318	0.5566	-23	c.253 others(42): Show c.2535-1156_2535-1134delGGGAGGGGAGGGGAGGGGAGCGG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN1_chr5_175473560_175534742	175524122	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0090 a0001c0001t0052g0090	1	372	0.0027	-23	c.872 others(40): Show c.872+1702_872+1724delAAATATATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN5_chr2_72937036_73076712	73047232	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18983.hp1 NA18959.hp2 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0002 a0001c0002t0020	a0001c0002t0002g0047 a0001c0002t0020g0057 a0001c0002t0002g0047 a0001c0002t0020g0057	2	250	0.0080	-23	c.172 others(40): Show c.172-6324_172-6302delATATATATATTTTTTTTTTTTTT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156444090	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	150	0.0067	-23	c.193 others(42): Show c.193-64510_193-64488delTCTCTCTCTCTCTCTCTCTCTCT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCZ_chr8_14079845_15243431	14479739	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01975.hp2 NA19000.hp1 HG01346.hp2 HG01975.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0067 a0001c0001t0071 a0001c0001t0025 a0001c0001t0067 a0001c0001t0071	a0001c0001t0025g0022 a0001c0001t0067g0068 a0001c0001t0071g0067 a0001c0001t0025g0022 a0001c0001t0067g0068 a0001c0001t0071g0067	3	102	0.0294	-23	c.234 others(42): Show c.234+74970_234+74992delTAAAAAAAAAAAAAAAAAAAAAA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14629347	TTAATGTA others(16): Show TTAATGTAAAATACATTATCTAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp2 HG01258.hp2 others(30): Show HG00438.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02451.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp1 HG03486.hp1 HG03540.hp2 HG03704.hp2 NA18612.hp1 NA18959.hp1 NA18959.hp2 NA19000.hp1 NA19043.hp2 NA19056.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032 a0001c0001t0036 a0001c0001t0039 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0081 a0001c0001t0084 a0001c0001t0089 a0001c0001t0090 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009	a0001c0001t0001g0080 a0001c0001t0003g0020 a0001c0001t0003g0021 others(30): Show a0001c0001t0001g0080 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0006g0083 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0016g0017 a0001c0001t0021g0015 a0001c0001t0023g0029 a0001c0001t0025g0022 a0001c0001t0032g0018 a0001c0001t0036g0012 a0001c0001t0039g0036 a0001c0001t0044g0033 a0001c0001t0049g0046 a0001c0001t0050g0045 a0001c0001t0052g0077 a0001c0001t0053g0056 a0001c0001t0056g0062 a0001c0001t0057g0087 a0001c0001t0066g0099 a0001c0001t0067g0068 a0001c0001t0069g0096 a0001c0001t0070g0081 a0001c0001t0071g0067 a0001c0001t0081g0085 a0001c0001t0084g0101 a0001c0001t0089g0050 a0001c0001t0090g0084 a0002c0002t0004g0027 a0002c0002t0004g0039 a0002c0002t0007g0070 a0002c0002t0009g0001	33	102	0.3235	-23	c.40- others(40): Show c.40-74444_40-74422delTTTAGATAATGTATTTTACATTA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14816647	GAATATAA others(16): Show GAATATAAGAAATTAACCATGTTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00738.hp2 others(26): Show HG00438.hp1 HG00438.hp2 HG00738.hp2 HG01109.hp1 HG01258.hp1 HG01346.hp1 HG01975.hp2 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02280.hp2 HG02622.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03486.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(26): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0038 a0001c0001t0040 a0001c0001t0049 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0074 a0001c0001t0075 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0002c0002t0004 a0002c0002t0007 a0003c0003t0043	a0001c0001t0002g0086 a0001c0001t0005g0091 a0001c0001t0010g0002 others(26): Show a0001c0001t0002g0086 a0001c0001t0005g0091 a0001c0001t0010g0002 a0001c0001t0016g0017 a0001c0001t0021g0015 a0001c0001t0024g0031 a0001c0001t0025g0022 a0001c0001t0028g0006 a0001c0001t0029g0016 a0001c0001t0030g0034 a0001c0001t0034g0030 a0001c0001t0038g0023 a0001c0001t0040g0038 a0001c0001t0049g0046 a0001c0001t0054g0058 a0001c0001t0055g0100 a0001c0001t0057g0087 a0001c0001t0059g0055 a0001c0001t0060g0071 a0001c0001t0062g0082 a0001c0001t0074g0098 a0001c0001t0075g0044 a0001c0001t0086g0078 a0001c0001t0088g0054 a0001c0001t0089g0050 a0001c0001t0090g0084 a0002c0002t0004g0027 a0002c0002t0007g0070 a0003c0003t0043g0041	29	102	0.2843	-23	c.40- others(42): Show c.40-261744_40-261722delTAACATGGTTAATTTCTTATATT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15186262	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18951.hp2 HG01993.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0072 a0001c0001t0006g0092 a0001c0001t0005g0072 a0001c0001t0006g0092	2	102	0.0196	-23	c.39+ others(40): Show c.39+51300_39+51322delTTTTTTTTTTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66631060	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	302	0.0033	-23	c.75- others(38): Show c.75-2007_75-1985delGAAAGAAAGAAAGAAAGAAAGAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660122	AAGAAAGA others(16): Show AAGAAAGAAAGAAAGAAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp2 HG02055.hp1 others(13): Show HG00438.hp2 HG01884.hp2 HG02055.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02647.hp2 HG03654.hp2 HG03688.hp1 NA18522.hp1 NA18970.hp1 NA18972.hp2 NA18984.hp1 NA18991.hp1 NA19006.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0013 a0001c0001 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0059 a0001c0004t0001 a0001c0004t0025 a0001c0013t0004	a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0172 others(13): Show a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0172 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0298 a0001c0001t0004g0002 a0001c0001t0023g0113 a0001c0001t0026g0207 a0001c0001t0028g0258 a0001c0001t0059g0103 a0001c0004t0001g0088 a0001c0004t0001g0261 a0001c0004t0025g0086 a0001c0013t0004g0099	16	302	0.0530	-23	c.460 others(38): Show c.460-370_460-348delGAGAGAAAGAAAGAAAGAAAGAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134188114	GTTTGGTA others(16): Show GTTTGGTATCCACAGAATGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 NA19240.hp2 HG02922.hp1 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0007t0001 a0001c0001t0001 a0001c0001t0008 a0001c0007t0001	a0001c0001t0001g0016 a0001c0001t0008g0166 a0001c0007t0001g0156 a0001c0001t0001g0016 a0001c0001t0008g0166 a0001c0007t0001g0156	3	250	0.0120	-23	c.362 others(42): Show c.362-13551_362-13529delTGACCCATTCTGTGGATACCAAA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGPP1_chr14_63679216_63733065	63718992	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	288	0.0035	-23	c.684 others(40): Show c.684+8246_684+8268delATATATATATATATATATATATA	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2			chr14	TogoVar
SGPP1_chr14_63679216_63733065	63718994	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0032 a0001c0002t0010g0032	1	288	0.0035	-23	c.684 others(40): Show c.684+8244_684+8266delAAATATATATATATATATATATA	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2			chr14	TogoVar
SGPP1_chr14_63679216_63733065	63719004	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0020 a0001c0002t0003g0020	1	288	0.0035	-23	c.684 others(40): Show c.684+8234_684+8256delAAAAAAAAAAAAATATATATATA	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2			chr14	TogoVar
SGPP2_chr2_222419543_222567621	222467950	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0087 a0001c0003t0087	a0001c0003t0087g0237 a0001c0003t0087g0237	1	272	0.0037	-23	c.220 others(40): Show c.220-6602_220-6580delAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM2_chr17_2332501_2386054	2379355	GAGCAGGG others(16): Show GAGCAGGGTAGTCAGCCACCTCCT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0024 a0013c0030t0024	a0013c0030t0024g0149 a0013c0030t0024g0149	1	422	0.0024	-23	c.306 others(38): Show c.3068-73_3068-51delAGGGTAGTCAGCCACCTCCTAGC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGTA_chr19_2749715_2788273	2769992	TCCCCCCT others(16): Show TCCCCCCTCGGACACCCGCCTGTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02809.hp1 others(6): Show HG02451.hp1 HG02630.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0008 a0001c0003t0005g0331 a0001c0003t0005g0332 others(3): Show a0001c0003t0005g0008 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0334 a0001c0003t0005g0335	9	396	0.0227	-23	c.-23 others(38): Show c.-23-924_-23-902delCACAGGCGGGTGTCCGAGGGGGG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2770097	CACCCTCC others(16): Show CACCCTCCTGGTTCCCTCTCAGAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(187): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0002c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0019 a0001c0003t0003 a0001c0003t0004 a0001c0003t0020 a0001c0003t0021 a0001c0004t0003 a0001c0004t0017 a0001c0005t0002 a0001c0006t0004 a0001c0008t0009 a0001c0010t0002 a0001c0011t0002 a0002c0013t0003	a0001c0002t0001g0015 a0001c0002t0001g0054 a0001c0002t0002g0001 others(161): Show a0001c0002t0001g0015 a0001c0002t0001g0054 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0003g0036 a0001c0002t0003g0094 a0001c0002t0019g0164 a0001c0003t0003g0014 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0051 a0001c0003t0003g0052 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0064 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0142 a0001c0003t0003g0144 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0159 a0001c0003t0003g0160 a0001c0003t0003g0162 a0001c0003t0003g0169 a0001c0003t0003g0177 a0001c0003t0003g0188 a0001c0003t0004g0016 a0001c0003t0004g0063 a0001c0003t0004g0170 a0001c0003t0020g0128 a0001c0003t0021g0143 a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0129 a0001c0004t0003g0130 a0001c0004t0003g0131 a0001c0004t0003g0132 a0001c0004t0003g0135 a0001c0004t0003g0145 a0001c0004t0003g0146 a0001c0004t0003g0147 a0001c0004t0003g0149 a0001c0004t0003g0150 a0001c0004t0003g0151 a0001c0004t0003g0152 a0001c0004t0003g0161 a0001c0004t0017g0148 a0001c0005t0002g0034 a0001c0005t0002g0067 a0001c0005t0002g0068 a0001c0005t0002g0069 a0001c0005t0002g0070 a0001c0005t0002g0071 a0001c0005t0002g0189 a0001c0005t0002g0336 a0001c0005t0002g0337 a0001c0005t0002g0338 a0001c0006t0004g0182 a0001c0006t0004g0183 a0001c0006t0004g0184 a0001c0006t0004g0185 a0001c0006t0004g0186 a0001c0006t0004g0187 a0001c0008t0009g0090 a0001c0008t0009g0123 a0001c0010t0002g0066 a0001c0011t0002g0076 a0002c0013t0003g0156	190	396	0.4798	-23	c.-23 others(40): Show c.-23-1029_-23-1007delTTCTGAGAGGGAACCAGGAGGGT	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SH2D1B_chr1_162390268_162417136	162398385	AGTAGCTG others(16): Show AGTAGCTGCTCATGATATAATTTG	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0159 a0002c0003t0001g0159	1	424	0.0024	-23	c.363 others(38): Show c.363+515_363+537delCAAATTATATCATGAGCAGCTAC	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	3/3			chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162403504	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03927.hp2 NA18965.hp2 others(1): Show HG01069.hp1 HG03927.hp2 NA18965.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0033 a0001c0002t0002g0120 a0001c0002t0002g0121	4	424	0.0094	-23	c.135 others(38): Show c.135-725_135-703delATATATATATATATATTTTTTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3			chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162403506	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	424	0.0024	-23	c.135 others(38): Show c.135-727_135-705delATATATATATATATATATTTTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3			chr1	TogoVar
SH2D3C_chr9_127733317_127783666	127783262	GCGGGGTG others(16): Show GCGGGGTGTAGGTGACAACTCCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0096 a0002c0003t0001g0096	1	332	0.0030	-23	c.-46 others(34): Show c.-4658_-4636delGTGGAGTTGTCACCTACACCCCG	SH2D3C	ENSG00000095370.20	transcript	ENST00000314830.13	protein_coding		4597		chr9	TogoVar
SH3BGRL2_chr6_79626329_79708655	79679827	ATTAGTGA others(16): Show ATTAGTGATGTTGAGCATCTTTTG	A A	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	348	0.0029	-23	c.231 others(40): Show c.231+6029_231+6051delTTAGTGATGTTGAGCATCTTTTG	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	2/3			chr6	TogoVar
SH3BGR_chr21_39446970_39520504	39510375	CACACACA others(16): Show CACACACACACACACACTGTAGCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	302	0.0033	-23	c.436 others(40): Show c.436-1288_436-1266delTGTAGCTACACACACACACACAC	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BP4_chr2_234947017_235060714	235038266	TATATATA others(16): Show TATATATAATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp1 HG02896.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0001 a0001c0025t0001 a0001c0002t0001 a0001c0025t0001	a0001c0002t0001g0030 a0001c0025t0001g0129 a0001c0002t0001g0030 a0001c0025t0001g0129	2	348	0.0058	-23	c.119 others(40): Show c.119-2614_119-2592delATATATATTATATATAATATATA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3KBP1_chrX_19528977_19892600	19643300	ATTTTTTA others(16): Show ATTTTTTATTTTTTTTTTTTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	204	0.0049	-23	c.802 others(40): Show c.802+2077_802+2099delATAAAAAAAAAAAAAATAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	7/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19774655	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01192.hp1 others(24): Show HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01975.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03831.hp1 NA18979.hp1 NA19030.hp2 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0004c0008 a0001c0001 a0001c0010 a0004c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0010t0001 a0004c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0137 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0004g0032 a0001c0001t0008g0023 a0001c0001t0010g0004 a0001c0010t0001g0199 a0004c0008t0001g0030	27	204	0.1324	-23	c.163 others(42): Show c.163-28237_163-28215delCTTTCTTTCTTTCTTTCTTTCTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348671	CTATCTAT others(16): Show CTATCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18998.hp2 NA18950.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0086 a0001c0001t0008 a0001c0002t0086	a0001c0001t0008g0129 a0001c0002t0086g0233 a0001c0001t0008g0129 a0001c0002t0086g0233	2	280	0.0071	-23	c.101 others(42): Show c.1013-1362_1013-1340delATAGATAGATAGATAGATAGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169218367	ATATAGAA others(16): Show ATATAGAATATAGAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03516.hp1 HG02622.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0052 a0003c0005t0010g0053 a0003c0005t0010g0052 a0003c0005t0010g0053	2	216	0.0093	-23	c.393 others(42): Show c.393+50430_393+50452delATATATATATTCTATATTCTATA	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3RF2_chr5_145931578_146068292	146064674	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	272	0.0037	-23	c.19 others(34): Show c.1974_*1996delAAAGAAAGAAAGAAAGAAAGAAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1383		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109170276	TCTCTTCT others(16): Show TCTCTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp2 HG02976.hp2 others(3): Show HG02451.hp1 HG02895.hp2 HG02976.hp2 HG03486.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0010 a0001c0004t0042 others(1): Show a0001c0004t0001 a0001c0004t0010 a0001c0004t0042 a0001c0004t0043	a0001c0004t0001g0007 a0001c0004t0010g0003 a0001c0004t0010g0005 others(3): Show a0001c0004t0001g0007 a0001c0004t0010g0003 a0001c0004t0010g0005 a0001c0004t0010g0006 a0001c0004t0042g0002 a0001c0004t0043g0004	6	172	0.0349	-23	c.573 others(42): Show c.573+40164_573+40186delCTCTTCTCTTCTCTTCTCTTCTC	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109249509	CATTCTTT others(16): Show CATTCTTTCTTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0080 a0001c0024t0002g0080	1	172	0.0058	-23	c.574 others(42): Show c.574-98164_574-98142delATTCTTTCTTTTTCTTTCTTTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
SH3TC1_chr4_8194290_8246103	8211315	TTCTCCCC others(16): Show TTCTCCCCCTCCCGGTGTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG02683.hp2 others(2): Show HG01081.hp1 HG01261.hp2 HG02683.hp2 HG03831.hp2 HG03927.hp2	a0001 a0002 a0037 a0001 a0002 a0037	a0001c0045 a0002c0004 a0002c0012 others(1): Show a0001c0045 a0002c0004 a0002c0012 a0037c0092	a0001c0045t0001 a0002c0004t0001 a0002c0012t0002 others(1): Show a0001c0045t0001 a0002c0004t0001 a0002c0012t0002 a0037c0092t0003	a0001c0045t0001g0320 a0002c0004t0001g0037 a0002c0004t0001g0319 others(2): Show a0001c0045t0001g0320 a0002c0004t0001g0037 a0002c0004t0001g0319 a0002c0012t0002g0321 a0037c0092t0003g0365	5	374	0.0134	-23	c.248 others(40): Show c.248-1374_248-1352delCGGTGTCTCCCCTCTCCCCCTCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC2_chr5_148977150_149068062	149021884	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02148.hp1 HG01952.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0119 a0001c0001t0037g0120 a0001c0001t0037g0119 a0001c0001t0037g0120	2	326	0.0061	-23	c.305 others(42): Show c.3053+4665_3053+4687delAAAAAAAAAAAAAAAAAAAAAAA	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SHANK1_chr19_50654255_50724802	50707886	CTTTTCTT others(16): Show CTTTTCTTTTCTTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0027 a0002c0001t0027	a0002c0001t0027g0029 a0002c0001t0027g0029	1	316	0.0032	-23	c.107 others(42): Show c.1078-3395_1078-3373delAAAGAAAAGAAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707888	TTTCTTTT others(16): Show TTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03942.hp1 HG04184.hp2 others(2): Show HG01070.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005	a0001c0002t0105 a0001c0003t0007 a0002c0001t0005 others(2): Show a0001c0002t0105 a0001c0003t0007 a0002c0001t0005 a0002c0001t0019 a0003c0005t0003	a0001c0002t0105g0304 a0001c0003t0007g0087 a0002c0001t0005g0110 others(2): Show a0001c0002t0105g0304 a0001c0003t0007g0087 a0002c0001t0005g0110 a0002c0001t0019g0225 a0003c0005t0003g0241	5	316	0.0158	-23	c.107 others(42): Show c.1078-3397_1078-3375delGAAAAGAAAAGAAAAGAAAAGAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 4709 hits)