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 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
SMO_chr7_129183633_129218545	129193780	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0062 a0002c0003t0003g0062	1	410	0.0024	-23	c.331 others(40): Show c.331+4300_331+4322delAAAAATATATATATATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMPD3_chr16_68353327_68453508	68386611	ACTGGGAC others(16): Show ACTGGGACCTTGTTGTCCTTCTCT	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0011 a0001c0002t0035g0011	1	208	0.0048	-23	c.-24 others(32): Show c.-243_-221delAGAGAAGGACAACAAGGTCCCAG	SMPD3	ENSG00000103056.12	transcript	ENST00000219334.10	protein_coding	2/9	14431		chr16	TogoVar
SMPDL3A_chr6_122784258_122814720	122808628	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCCCCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(115): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18955.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19090.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0012	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002 a0003c0009 a0004c0005 a0009c0016 a0012c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002 a0001c0006t0002 a0001c0007t0002 a0002c0002t0001 a0002c0002t0002 a0003c0009t0002 a0004c0005t0001 a0009c0016t0002 a0012c0019t0002	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0025 others(84): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0184 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0172 a0001c0001t0006g0185 a0001c0003t0002g0011 a0001c0003t0002g0024 a0001c0003t0002g0046 a0001c0003t0002g0091 a0001c0003t0002g0129 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0204 a0001c0003t0002g0215 a0001c0003t0002g0270 a0001c0006t0002g0147 a0001c0006t0002g0148 a0001c0007t0002g0090 a0002c0002t0001g0010 a0002c0002t0001g0242 a0002c0002t0002g0010 a0002c0002t0002g0143 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0243 a0002c0002t0002g0246 a0003c0009t0002g0101 a0004c0005t0001g0080 a0009c0016t0002g0011 a0012c0019t0002g0002	118	442	0.2670	-23	c.104 others(40): Show c.1045-459_1045-437delTTCCTTCCTTCCCCCCCTCCTCC	SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMTNL2_chr17_4579529_4613319	4589938	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18949.hp2 NA18951.hp1 HG03927.hp1 NA18949.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0001c0004t0002 a0002c0001t0002 a0001c0004t0001 a0001c0004t0002 a0002c0001t0002	a0001c0004t0001g0125 a0001c0004t0002g0126 a0002c0001t0002g0271 a0001c0004t0001g0125 a0001c0004t0002g0126 a0002c0001t0002g0271	3	442	0.0068	-23	c.400 others(40): Show c.400-2399_400-2377delTTTTTTTTTTTTTTTTTTTTTTT	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMUG1_chr12_54175366_54193985	54185486	AAATAAAT others(16): Show AAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG01175.hp2 others(29): Show HG00738.hp2 HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01358.hp1 HG01952.hp1 HG02055.hp1 HG02071.hp2 HG02293.hp2 HG02630.hp1 HG02922.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18951.hp2 NA18953.hp1 NA18970.hp2 NA18979.hp1 NA18984.hp1 NA18993.hp1 NA19007.hp1 NA19068.hp1 NA19078.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 a0001c0001t0029 a0001c0008t0017 a0002c0002t0019	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0062 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0012g0165 a0001c0001t0018g0164 a0001c0001t0029g0188 a0001c0008t0017g0178 a0002c0002t0019g0159	32	438	0.0731	-23	c.-19 others(40): Show c.-19-1550_-19-1528delATTTATTTATTTATTTATTTATT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	2/3			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99146201	CCTGGAAA others(16): Show CCTGGAAACCTTTCATTGCTTAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0209 a0001c0001t0007g0209	1	264	0.0038	-23	c.-24 others(34): Show c.-2444_-2422delATTAAGCAATGAAAGGTTTCCAG	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding		2094		chr7	TogoVar
SMYD1_chr2_88062825_88118384	88063704	CCATTTTA others(16): Show CCATTTTATCTCATCTTCTAATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0235 a0001c0007t0005g0235	1	338	0.0030	-23	c.-41 others(34): Show c.-4160_-4138delCATTTTATCTCATCTTCTAATAT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		4120		chr2	TogoVar
SMYD3_chr1_245744347_246512279	246225321	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	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	-23	c.531 others(44): Show c.531+101857_531+101879delTTTTTTTTTTTTTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD5_chr2_73209245_73232221	73220376	TCTGGAAA others(16): Show TCTGGAAAATGGGCTTGGTGGGAG	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	372	0.0027	-23	c.345 others(38): Show c.345+212_345+234delGGAAAATGGGCTTGGTGGGAGCT	SMYD5	ENSG00000135632.12	transcript	ENST00000389501.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNAP29_chr22_20854007_20896214	20874352	CACACACA others(16): Show CACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0164 a0001c0001t0024g0164	1	382	0.0026	-23	c.434 others(40): Show c.434+3820_434+3842delACACACACACACACACACACACA	SNAP29	ENSG00000099940.12	transcript	ENST00000215730.12	protein_coding	2/4			chr22	TogoVar
SNAP91_chr6_83547885_83714101	83618187	CATGTGAT others(16): Show CATGTGATTATTATATTTGTAATT	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	366	0.0027	-23	c.808 others(40): Show c.808-1171_808-1149delAATTACAAATATAATAATCACAT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	9/29			chr6	TogoVar
SNAPC1_chr14_61757420_61801428	61786530	TGAAAAGA others(16): Show TGAAAAGATGCTCTGCATCTTTAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0145 a0001c0001t0003g0122 a0001c0001t0002g0145 a0001c0001t0003g0122	2	356	0.0056	-23	c.976 others(40): Show c.976+4134_976+4156delGAAAAGATGCTCTGCATCTTTAG	SNAPC1	ENSG00000023608.5	transcript	ENST00000216294.5	protein_coding	8/9			chr14	TogoVar
SNCAIP_chr5_122307237_122469219	122358112	CTAAACAG others(16): Show CTAAACAGAGTTAATTTTCAGGAT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	222	0.0045	-23	c.-46 others(42): Show c.-46-32976_-46-32954delTAAACAGAGTTAATTTTCAGGAT	SNCAIP	ENSG00000064692.20	transcript	ENST00000261368.13	protein_coding	1/10			chr5	TogoVar
SNRNP25_chr16_48828_62669	52446	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01517.hp1 HG02040.hp1 others(30): Show HG01192.hp1 HG01517.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02559.hp2 HG02698.hp2 HG02717.hp2 HG03130.hp1 HG03486.hp1 NA18906.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA19002.hp1 NA19006.hp2 NA19010.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0003c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0002 a0001c0001t0004g0024 a0003c0006t0003g0029	33	424	0.0778	-23	c.-15 others(34): Show c.-1570_-1548delAAAAAAAAAAAAAAAAAAAAAAA	SNRNP25	ENSG00000161981.11	transcript	ENST00000293861.8	protein_coding		1381		chr16	TogoVar
SNRPE_chr1_203856599_203876152	203869289	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	416	0.0024	-23	c.224 others(38): Show c.224-576_224-554delTTTTTTTTTTTTTTTTTTTTTTT	SNRPE	ENSG00000182004.13	transcript	ENST00000414487.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNTB1_chr8_120530756_120817046	120549903	CAGAAAGC others(16): Show CAGAAAGCAACACTTTACAATTTA	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	254	0.0039	-23	c.113 others(40): Show c.1137-968_1137-946delTAAATTGTAAAGTGTTGCTTTCT	SNTB1	ENSG00000172164.15	transcript	ENST00000517992.2	protein_coding	4/6			chr8	TogoVar
SNTB2_chr16_69182164_69314052	69292405	TATTATAT others(16): Show TATTATATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00609.hp1 others(13): Show HG00408.hp1 HG00597.hp1 HG00609.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG02015.hp1 NA18968.hp1 NA18973.hp2 NA18983.hp2 NA19010.hp1 NA19060.hp1 NA19064.hp1 NA19077.hp1 NA19084.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0022 a0001c0001t0035 others(1): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0035 a0002c0004t0001	a0001c0001t0001g0116 a0001c0001t0001g0162 a0001c0001t0001g0182 others(13): Show a0001c0001t0001g0116 a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0022g0195 a0001c0001t0022g0196 a0001c0001t0035g0194 a0002c0004t0001g0192	16	218	0.0734	-23	c.134 others(42): Show c.1346-7184_1346-7162delATTATATATATATTATATATATA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6			chr16	TogoVar
SNTB2_chr16_69182164_69314052	69310070	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG01891.hp2 others(9): Show HG01346.hp2 HG01361.hp2 HG01891.hp2 HG02630.hp1 HG03579.hp2 HG04199.hp2 HG06807.hp2 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA19007.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0003t0005	a0001c0001t0001g0180 a0001c0001t0005g0112 a0001c0001t0005g0147 others(9): Show a0001c0001t0001g0180 a0001c0001t0005g0112 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0025g0152 a0001c0003t0005g0209 a0001c0003t0005g0214 a0001c0003t0005g0215	12	218	0.0551	-23	c.91 others(34): Show c.9147_*9169delTTTTTTTTTTTTTTTTTTTTTTT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding		1019		chr16	TogoVar
SNTG1_chr8_49906407_50801692	50259509	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG03453.hp1 others(1): Show HG02886.hp1 HG03098.hp2 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0002t0044	a0001c0001t0004g0072 a0001c0001t0008g0071 a0001c0001t0015g0001 others(1): Show a0001c0001t0004g0072 a0001c0001t0008g0071 a0001c0001t0015g0001 a0001c0002t0044g0047	4	106	0.0377	-23	c.-28 others(42): Show c.-28+86877_-28+86899delGAAAGAAAGAAAGAAAGAAAGAA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50287496	ACAAGCAC others(16): Show ACAAGCACAAAGGTGCCCTGGGGT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG06807.hp1 NA21309.hp2 HG03490.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0021 a0001c0002t0025 a0001c0001t0012 a0001c0002t0021 a0001c0002t0025	a0001c0001t0012g0049 a0001c0002t0021g0073 a0001c0002t0025g0089 a0001c0001t0012g0049 a0001c0002t0021g0073 a0001c0002t0025g0089	3	106	0.0283	-23	c.-27 others(44): Show c.-27-106709_-27-106687delCAAAGGTGCCCTGGGGTCAAGCA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1279054	CACCCCTC others(16): Show CACCCCTCTGTCAGTGCGCGAATG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(40): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG01081.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp1 HG03017.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18942.hp1 NA18943.hp2 NA18963.hp1 NA18969.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA19084.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0014 a0020 a0022	a0001c0001 a0002c0003 a0002c0005 others(7): Show a0001c0001 a0002c0003 a0002c0005 a0002c0022 a0003c0007 a0003c0026 a0006c0009 a0014c0035 a0020c0032 a0022c0021	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(8): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0003c0007t0001 a0003c0007t0002 a0003c0026t0001 a0006c0009t0001 a0014c0035t0001 a0020c0032t0001 a0022c0021t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 others(40): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0178 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0064 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0138 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0014 a0002c0005t0001g0020 a0002c0005t0001g0032 a0002c0005t0001g0107 a0002c0005t0001g0114 a0002c0005t0001g0156 a0002c0005t0001g0167 a0002c0005t0001g0168 a0002c0022t0001g0155 a0003c0007t0001g0008 a0003c0007t0001g0080 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077 a0003c0026t0001g0097 a0006c0009t0001g0163 a0014c0035t0001g0071 a0020c0032t0001g0059 a0022c0021t0001g0111	43	190	0.2263	-23	c.128 others(44): Show c.1284+11506_1284+11528delGACCCCTCTGTCAGTGCGCGAAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX20_chr16_50666629_50686312	50683845	TGGCCTGC others(16): Show TGGCCTGCTAGCTGGGGCACCCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	416	0.0024	-23	c.-26 others(34): Show c.-2688_-2666delCGGGGTGCCCCAGCTAGCAGGCC	SNX20	ENSG00000167208.16	transcript	ENST00000330943.9	protein_coding		2534		chr16	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02559.hp2 others(6): Show HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02647.hp1 HG02818.hp2 HG03453.hp2 HG03579.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0024 a0001c0001t0054 others(2): Show a0001c0001t0012 a0001c0001t0024 a0001c0001t0054 a0001c0001t0095 a0001c0001t0113	a0001c0001t0012g0104 a0001c0001t0012g0106 a0001c0001t0012g0109 others(6): Show a0001c0001t0012g0104 a0001c0001t0012g0106 a0001c0001t0012g0109 a0001c0001t0012g0110 a0001c0001t0024g0355 a0001c0001t0054g0105 a0001c0001t0054g0107 a0001c0001t0095g0334 a0001c0001t0113g0103	9	366	0.0246	-23	c.115 others(42): Show c.1150-7055_1150-7033delTTTTTTTTTTTTTTTTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12461973	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0015 a0001c0001t0042g0015	1	176	0.0057	-23	c.203 others(44): Show c.2038-15744_2038-15722delAAAAATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476378	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0002 a0006c0017t0002	a0006c0017t0002g0024 a0006c0017t0002g0024	1	176	0.0057	-23	c.203 others(42): Show c.2038-1339_2038-1317delAAAAATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12512395	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02015.hp2 HG02523.hp1 others(7): Show HG01261.hp2 HG02015.hp2 HG02523.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA19009.hp2 NA19070.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0018 a0001c0021	a0001c0001t0007 a0001c0001t0036 a0001c0002t0024 others(7): Show a0001c0001t0007 a0001c0001t0036 a0001c0002t0024 a0001c0003t0016 a0001c0003t0103 a0001c0003t0104 a0001c0004t0005 a0001c0004t0092 a0001c0018t0007 a0001c0021t0111	a0001c0001t0007g0175 a0001c0001t0036g0030 a0001c0002t0024g0050 others(7): Show a0001c0001t0007g0175 a0001c0001t0036g0030 a0001c0002t0024g0050 a0001c0003t0016g0005 a0001c0003t0103g0079 a0001c0003t0104g0156 a0001c0004t0005g0171 a0001c0004t0092g0102 a0001c0018t0007g0057 a0001c0021t0111g0035	10	176	0.0568	-23	c.217 others(44): Show c.2179-12306_2179-12284delATATATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20			chr16	TogoVar
SNX7_chr1_98656721_98765500	98663252	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18989.hp2 NA19058.hp1 others(3): Show NA18959.hp2 NA18989.hp2 NA19058.hp1 NA19064.hp1 NA19070.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 others(3): Show a0001c0001t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028	6	378	0.0159	-23	c.180 others(40): Show c.180+1342_180+1364delGTTTTTTTTTTTTTTTTTTTTTT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding	1/8			chr1	TogoVar
SNX8_chr7_2246770_2319441	2317251	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG02622.hp1 others(1): Show HG01109.hp1 HG01192.hp1 HG02622.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0004t0005	a0001c0001t0003g0140 a0001c0001t0005g0011 a0001c0001t0008g0270 others(1): Show a0001c0001t0003g0140 a0001c0001t0005g0011 a0001c0001t0008g0270 a0002c0004t0005g0002	4	370	0.0108	-23	c.-28 others(34): Show c.-2853_-2831delAAAAAAAAAAAAAAAAAAAAAAA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		2811		chr7	TogoVar
SOAT1_chr1_179288797_179363680	179344352	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01070.hp1 others(43): Show HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp2 NA18979.hp1 NA18989.hp1 NA18991.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19079.hp2 NA20805.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0004 a0001c0005 a0001c0013 others(5): Show a0001c0004 a0001c0005 a0001c0013 a0001c0014 a0003c0020 a0004c0010 a0006c0019 a0007c0018	a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 others(22): Show a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0001c0004t0017 a0001c0004t0022 a0001c0004t0026 a0001c0004t0030 a0001c0004t0035 a0001c0004t0040 a0001c0004t0041 a0001c0004t0042 a0001c0004t0046 a0001c0004t0064 a0001c0004t0065 a0001c0004t0066 a0001c0004t0077 a0001c0005t0007 a0001c0013t0017 a0001c0013t0067 a0001c0014t0045 a0003c0020t0030 a0004c0010t0022 a0004c0010t0035 a0006c0019t0007 a0007c0018t0022	a0001c0004t0011g0138 a0001c0004t0011g0140 a0001c0004t0011g0141 others(42): Show a0001c0004t0011g0138 a0001c0004t0011g0140 a0001c0004t0011g0141 a0001c0004t0011g0142 a0001c0004t0011g0232 a0001c0004t0011g0246 a0001c0004t0012g0002 a0001c0004t0012g0079 a0001c0004t0016g0247 a0001c0004t0016g0249 a0001c0004t0017g0081 a0001c0004t0017g0082 a0001c0004t0017g0083 a0001c0004t0022g0361 a0001c0004t0026g0002 a0001c0004t0026g0078 a0001c0004t0030g0245 a0001c0004t0035g0363 a0001c0004t0040g0147 a0001c0004t0041g0002 a0001c0004t0042g0080 a0001c0004t0046g0146 a0001c0004t0064g0139 a0001c0004t0065g0143 a0001c0004t0066g0144 a0001c0004t0077g0362 a0001c0005t0007g0008 a0001c0005t0007g0335 a0001c0005t0007g0344 a0001c0005t0007g0346 a0001c0005t0007g0347 a0001c0005t0007g0349 a0001c0005t0007g0350 a0001c0005t0007g0352 a0001c0005t0007g0354 a0001c0005t0007g0355 a0001c0005t0007g0357 a0001c0013t0017g0336 a0001c0013t0067g0267 a0001c0014t0045g0156 a0003c0020t0030g0022 a0004c0010t0022g0364 a0004c0010t0035g0366 a0006c0019t0007g0345 a0007c0018t0022g0365	46	382	0.1204	-23	c.988 others(38): Show c.988-594_988-572delGTTTTTTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	10/15			chr1	TogoVar
SON_chr21_33538038_33582481	33577666	CACACACA others(16): Show CACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0213 a0002c0003t0001g0213	1	364	0.0028	-23	c.12 others(34): Show c.1243_*1265delACACACACACACACACACACACA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		186		chr21	TogoVar
SON_chr21_33538038_33582481	33577679	ACACACAC others(16): Show ACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	364	0.0028	-23	c.12 others(34): Show c.1256_*1278delCACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		199		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185791238	AATATGGG others(16): Show AATATGGGCAATACATTTATGAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp1 HG02615.hp2 others(1): Show HG00735.hp1 HG02145.hp1 HG02615.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0010 a0001c0001t0011 a0001c0001t0057 others(1): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0057 a0001c0013t0007	a0001c0001t0010g0106 a0001c0001t0011g0032 a0001c0001t0057g0035 others(1): Show a0001c0001t0010g0106 a0001c0001t0011g0032 a0001c0001t0057g0035 a0001c0013t0007g0093	4	312	0.0128	-23	c.-23 others(44): Show c.-236-15895_-236-15873delATTCATAAATGTATTGCCCATAT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7294491	CTGCCCCA others(16): Show CTGCCCCAGGGAGCTCCTCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp1 HG02300.hp2 others(4): Show HG01167.hp1 HG02258.hp1 HG02300.hp2 HG02922.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0017	a0001c0002 a0001c0003 a0001c0009 others(4): Show a0001c0002 a0001c0003 a0001c0009 a0001c0028 a0003c0013 a0006c0018 a0017c0054	a0001c0002t0001 a0001c0003t0019 a0001c0009t0051 others(4): Show a0001c0002t0001 a0001c0003t0019 a0001c0009t0051 a0001c0028t0028 a0003c0013t0021 a0006c0018t0059 a0017c0054t0022	a0001c0002t0001g0123 a0001c0003t0019g0023 a0001c0009t0051g0042 others(4): Show a0001c0002t0001g0123 a0001c0003t0019g0023 a0001c0009t0051g0042 a0001c0028t0028g0152 a0003c0013t0021g0100 a0006c0018t0059g0145 a0017c0054t0022g0113	7	168	0.0417	-23	c.480 others(44): Show c.480+101399_480+101421delAGCTCCTCCTCCATGCCCCAGGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403981	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0161 a0001c0001t0072g0161	1	168	0.0060	-23	c.548 others(40): Show c.548+7628_548+7650delATATATATATATATATTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7514533	TGGTTATA others(16): Show TGGTTATAGAGTCATGGCAGGGCA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0070 a0006c0021t0070	a0006c0021t0070g0103 a0006c0021t0070g0103	1	168	0.0060	-23	c.549 others(42): Show c.549-16995_549-16973delGTTATAGAGTCATGGCAGGGCAG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01515.hp1 HG03098.hp1 others(1): Show HG01175.hp2 HG01515.hp1 HG03098.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0015t0002 a0001c0001t0001 a0001c0001t0002 a0001c0015t0002	a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0002g0133 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0002g0133 a0001c0015t0002g0130	4	134	0.0299	-23	c.627 others(42): Show c.627+42857_627+42879delTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOWAHB_chr4_76889152_76903144	76900844	AAAAAAAA others(16): Show AAAAAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01168.hp1 others(14): Show HG00280.hp2 HG00639.hp2 HG01168.hp1 HG01261.hp2 HG01496.hp1 HG02109.hp2 HG02280.hp2 HG02615.hp1 HG02698.hp2 HG02818.hp2 HG03017.hp1 HG03688.hp1 HG03942.hp1 HG04204.hp2 NA19043.hp2 NA19062.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0013c0019	a0001c0001t0005 a0002c0002t0003 a0004c0004t0005 others(2): Show a0001c0001t0005 a0002c0002t0003 a0004c0004t0005 a0004c0004t0017 a0013c0019t0005	a0001c0001t0005g0000 a0002c0002t0003g0000 a0004c0004t0005g0000 others(2): Show a0001c0001t0005g0000 a0002c0002t0003g0000 a0004c0004t0005g0000 a0004c0004t0017g0000 a0013c0019t0005g0000	17	438	0.0388	-23	c.-30 others(34): Show c.-3018_-2996delGTTTTTTTTTTTTTTGTTTTTTT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2701		chr4	TogoVar
SOX11_chr2_5687384_5706385	5699665	AAAATTTA others(16): Show AAAATTTATGAAACTGAGCTCTCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0000 a0001c0001t0065g0000	1	434	0.0023	-23	c.56 others(34): Show c.5619_*5641delAAATTTATGAAACTGAGCTCTCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding	1/1	5619		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706208	GGGAGGCC others(16): Show GGGAGGCCAGGGTGGAGGAGTTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	434	0.0023	-23	c.12 others(36): Show c.12162_*12184delGGAGGCCAGGGTGGAGGAGTTGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4824		chr2	TogoVar
SOX12_chr20_320552_335224	332270	TTTCCACA others(16): Show TTTCCACAGTGCTCCCAAGCCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG03490.hp2 HG03492.hp2 others(1): Show HG01167.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	400	0.0100	-23	c.53 others(34): Show c.5399_*5421delTTCCACAGTGCTCCCAAGCCTGC	SOX12	ENSG00000177732.9	transcript	ENST00000342665.5	protein_coding		2047		chr20	TogoVar
SOX2_chr3_181706925_181719436	181715432	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	412	0.0024	-23	c.21 others(34): Show c.2119_*2141delGTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		997		chr3	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG03139.hp1 NA19065.hp2 HG01978.hp1 HG03139.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	3	412	0.0073	-23	c.21 others(34): Show c.2120_*2142delTTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23570923	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG03130.hp2 others(2): Show HG02647.hp2 HG02965.hp2 HG03130.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0042 a0001c0001t0003 a0001c0001t0004 a0001c0001t0042	a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0208 others(2): Show a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0208 a0001c0001t0004g0148 a0001c0001t0042g0077	5	212	0.0236	-23	c.134 others(42): Show c.1342+4715_1342+4737delATATATATATATATATTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570925	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02970.hp2 NA19010.hp1 HG00597.hp1 HG02970.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0001t0121 a0001c0002t0005 a0001c0001t0041 a0001c0001t0121 a0001c0002t0005	a0001c0001t0041g0010 a0001c0001t0121g0186 a0001c0002t0005g0125 a0001c0001t0041g0010 a0001c0001t0121g0186 a0001c0002t0005g0125	3	212	0.0142	-23	c.134 others(42): Show c.1342+4713_1342+4735delATATATATATATATATATTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570929	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03704.hp1 HG03225.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0054 a0001c0001t0029 a0001c0001t0054	a0001c0001t0029g0027 a0001c0001t0054g0154 a0001c0001t0029g0027 a0001c0001t0054g0154	2	212	0.0094	-23	c.134 others(42): Show c.1342+4709_1342+4731delATATATATATATATATATATATT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570931	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18957.hp1 NA19003.hp1 others(2): Show HG03491.hp1 NA18957.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0033 a0001c0001t0037 others(2): Show a0001c0001t0019 a0001c0001t0033 a0001c0001t0037 a0001c0001t0040 a0001c0001t0108	a0001c0001t0019g0075 a0001c0001t0033g0065 a0001c0001t0037g0081 others(2): Show a0001c0001t0019g0075 a0001c0001t0033g0065 a0001c0001t0037g0081 a0001c0001t0040g0046 a0001c0001t0108g0050	5	212	0.0236	-23	c.134 others(42): Show c.1342+4707_1342+4729delATATATATATATATATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16132421	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18991.hp2 HG02258.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0092 a0001c0001t0003g0031 a0001c0001t0002g0092 a0001c0001t0003g0031	2	218	0.0092	-23	c.778 others(42): Show c.778-20521_778-20499delTTTCTTTCTTTCTTTCTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX8_chr16_976770_991979	978105	ACACACCA others(16): Show ACACACCACACACCATACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-23	c.-38 others(34): Show c.-3817_-3795delCACACCACACACCATACACACAC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		3664		chr16	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0053	1	290	0.0035	-23	c.205 others(40): Show c.2053-615_2053-593delTTTTTTTTTTTTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP4_chr7_21423083_21519822	21510361	TAGTTAAC others(16): Show TAGTTAACATTAAACTAGCTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG03098.hp2 others(4): Show HG02055.hp1 HG02630.hp1 HG03098.hp2 HG03453.hp1 HG03516.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 others(2): Show a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0049 a0001c0001t0051	a0001c0001t0019g0249 a0001c0001t0019g0250 a0001c0001t0023g0246 others(4): Show a0001c0001t0019g0249 a0001c0001t0019g0250 a0001c0001t0023g0246 a0001c0001t0023g0247 a0001c0001t0024g0343 a0001c0001t0049g0248 a0001c0001t0051g0341	7	426	0.0164	-23	c.210 others(40): Show c.2108-660_2108-638delAGTTAACATTAAACTAGCTTTTA	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	5/5			chr7	TogoVar

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