Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SNX29_chr16_11971734_12579287	12476389	TATATATA others(17): Show TATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp1 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0078 a0001c0003t0002 a0001c0006t0078	a0001c0003t0002g0058 a0001c0006t0078g0027 a0001c0003t0002g0058 a0001c0006t0078g0027	2	176	0.0114	-24	c.203 others(43): Show c.2038-1306_2038-1283delCATATATATATATATATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12512612	GAGGGAGA others(17): Show GAGGGAGACGAGCATCCCATGGATA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp1 NA19009.hp2 others(2): Show HG02015.hp2 HG02523.hp1 NA19009.hp2 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0007 a0001c0001t0047 a0001c0003t0103 others(2): Show a0001c0001t0007 a0001c0001t0047 a0001c0003t0103 a0001c0003t0104 a0001c0004t0005	a0001c0001t0007g0175 a0001c0001t0047g0155 a0001c0003t0103g0079 others(2): Show a0001c0001t0007g0175 a0001c0001t0047g0155 a0001c0003t0103g0079 a0001c0003t0104g0156 a0001c0004t0005g0171	5	176	0.0284	-24	c.217 others(45): Show c.2179-12089_2179-12066delAGGGAGACGAGCATCCCATGGATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20			chr16	TogoVar
SNX29_chr16_11971734_12579287	12553095	TGGCCTGG others(17): Show TGGCCTGGGGCTTTCAGGCTGGGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp2 HG03579.hp1 HG02109.hp1 HG02896.hp2 HG03579.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0016 a0001c0002 a0007c0016	a0001c0002t0106 a0001c0002t0109 a0007c0016t0108 a0001c0002t0106 a0001c0002t0109 a0007c0016t0108	a0001c0002t0106g0123 a0001c0002t0109g0036 a0007c0016t0108g0049 a0001c0002t0106g0123 a0001c0002t0109g0036 a0007c0016t0108g0049	3	176	0.0171	-24	c.231 others(45): Show c.2319-15405_2319-15382delGGGGCTTTCAGGCTGGGAGGGCCT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12575845	TTTGTTTT others(17): Show TTTGTTTTTTTTGTTTTTGTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01433.hp2 HG03098.hp1 HG00733.hp1 HG01433.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0048 a0001c0001t0058 a0001c0001t0030 a0001c0001t0048 a0001c0001t0058	a0001c0001t0030g0014 a0001c0001t0048g0052 a0001c0001t0058g0107 a0001c0001t0030g0014 a0001c0001t0048g0052 a0001c0001t0058g0107	3	176	0.0171	-24	c.72 others(35): Show c.7217_*7240delTTGTTTTTTTTGTTTTTGTTTTTA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding		1559		chr16	TogoVar
SNX6_chr14_34556093_34635148	34557496	ATTCTTCT others(17): Show ATTCTTCTTCTTCTTCTTCTTCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(47): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG02015.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03704.hp2 HG03710.hp1 NA18747.hp1 NA18940.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18991.hp1 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19080.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0004g0017 a0001c0001t0005g0032 a0001c0001t0005g0034 a0001c0001t0016g0158 a0001c0001t0018g0203	50	322	0.1553	-24	c.56 others(35): Show c.5602_*5625delGAAGAAGAAGAAGAAGAAGAAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3596		chr14	TogoVar
SNX6_chr14_34556093_34635148	34559016	CACACACA others(17): Show CACACACACACACACACACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	322	0.0031	-24	c.40 others(35): Show c.4082_*4105delATGTGTGTGTGTGTGTGTGTGTGT	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		2076		chr14	TogoVar
SNX7_chr1_98656721_98765500	98682075	TCTTCCTT others(17): Show TCTTCCTTTTTTTGTCCTTCTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(90): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02451.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0005t0001 a0001c0008t0001 a0001c0001t0001 a0001c0005t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0005t0001g0003 a0001c0005t0001g0078 a0001c0005t0001g0079 a0001c0008t0001g0094	93	378	0.2460	-24	c.181 others(41): Show c.181-2797_181-2774delGTCCTTCTTTTACTTCCTTTTTTT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX8_chr7_2246770_2319441	2317251	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01891.hp1 HG02280.hp2 others(9): Show HG00621.hp2 HG01891.hp1 HG02280.hp2 HG02486.hp1 HG02647.hp2 HG02717.hp2 HG03017.hp1 HG03516.hp2 NA18612.hp2 NA18975.hp2 NA18978.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0040 a0001c0002t0004 a0001c0003t0005 a0001c0003t0006	a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0257 others(9): Show a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0257 a0001c0001t0001g0346 a0001c0001t0003g0186 a0001c0001t0005g0012 a0001c0001t0007g0329 a0001c0001t0040g0007 a0001c0002t0004g0015 a0001c0003t0005g0016 a0001c0003t0006g0013 a0001c0003t0006g0014	12	370	0.0324	-24	c.-28 others(35): Show c.-2854_-2831delAAAAAAAAAAAAAAAAAAAAAAAA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding		2811		chr7	TogoVar
SNX9_chr6_157818246_157950077	157827008	TTATAGTT others(17): Show TTATAGTTTATATAATATATACATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 NA18906.hp2 HG02145.hp1 HG02717.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0299 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0299	3	302	0.0099	-24	c.12+ others(39): Show c.12+3567_12+3590delGTTTATATAATATATACATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179348760	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(108): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp1 HG03654.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19054.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0002c0003 a0002c0007 a0002c0016 a0002c0017 a0003c0009	a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 others(25): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0001t0060 a0001c0001t0061 a0001c0002t0001 a0001c0002t0006 a0001c0002t0023 a0001c0002t0038 a0001c0005t0029 a0001c0012t0006 a0001c0012t0062 a0002c0003t0002 a0002c0003t0013 a0002c0003t0014 a0002c0003t0027 a0002c0003t0028 a0002c0003t0029 a0002c0003t0052 a0002c0003t0053 a0002c0003t0055 a0002c0003t0056 a0002c0003t0057 a0002c0007t0020 a0002c0007t0037 a0002c0016t0002 a0002c0017t0002 a0003c0009t0010	a0001c0001t0006g0011 a0001c0001t0006g0015 a0001c0001t0006g0017 others(105): Show a0001c0001t0006g0011 a0001c0001t0006g0015 a0001c0001t0006g0017 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0049 a0001c0001t0006g0056 a0001c0001t0006g0061 a0001c0001t0006g0065 a0001c0001t0010g0021 a0001c0001t0010g0057 a0001c0001t0010g0060 a0001c0001t0010g0066 a0001c0001t0010g0129 a0001c0001t0021g0046 a0001c0001t0021g0047 a0001c0001t0021g0048 a0001c0001t0060g0018 a0001c0001t0061g0013 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0168 a0001c0002t0001g0206 a0001c0002t0001g0231 a0001c0002t0006g0333 a0001c0002t0023g0153 a0001c0002t0038g0076 a0001c0005t0029g0035 a0001c0012t0006g0014 a0001c0012t0062g0068 a0002c0003t0002g0001 a0002c0003t0002g0003 a0002c0003t0002g0007 a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0258 a0002c0003t0002g0265 a0002c0003t0002g0269 a0002c0003t0002g0270 a0002c0003t0002g0271 a0002c0003t0002g0273 a0002c0003t0002g0278 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0002g0282 a0002c0003t0002g0287 a0002c0003t0002g0288 a0002c0003t0002g0289 a0002c0003t0002g0290 a0002c0003t0002g0291 a0002c0003t0002g0293 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0297 a0002c0003t0002g0298 a0002c0003t0002g0301 a0002c0003t0002g0302 a0002c0003t0002g0305 a0002c0003t0002g0310 a0002c0003t0002g0311 a0002c0003t0002g0313 a0002c0003t0002g0314 a0002c0003t0002g0315 a0002c0003t0002g0316 a0002c0003t0002g0317 a0002c0003t0002g0318 a0002c0003t0002g0322 a0002c0003t0002g0324 a0002c0003t0002g0326 a0002c0003t0002g0328 a0002c0003t0002g0329 a0002c0003t0002g0334 a0002c0003t0002g0337 a0002c0003t0002g0338 a0002c0003t0002g0339 a0002c0003t0002g0340 a0002c0003t0002g0343 a0002c0003t0002g0348 a0002c0003t0002g0351 a0002c0003t0002g0356 a0002c0003t0002g0358 a0002c0003t0013g0286 a0002c0003t0013g0292 a0002c0003t0014g0001 a0002c0003t0014g0268 a0002c0003t0014g0299 a0002c0003t0014g0342 a0002c0003t0027g0259 a0002c0003t0027g0330 a0002c0003t0028g0003 a0002c0003t0029g0285 a0002c0003t0052g0303 a0002c0003t0053g0274 a0002c0003t0055g0281 a0002c0003t0056g0304 a0002c0003t0057g0284 a0002c0007t0020g0214 a0002c0007t0020g0234 a0002c0007t0020g0238 a0002c0007t0037g0189 a0002c0016t0002g0294 a0002c0017t0002g0003 a0003c0009t0010g0023 a0003c0009t0010g0024 a0003c0009t0010g0059	111	382	0.2906	-24	c.121 others(39): Show c.1216-52_1216-29delGTGTGTGTGTGTGTGTGTGTGTGT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOBP_chr6_107485117_107666306	107521909	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18906.hp1 HG02809.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0225 a0001c0001t0001g0226	2	296	0.0068	-24	c.422 others(43): Show c.422-11522_422-11499delCACACACACACACACACACACACA	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS6_chr18_70284045_70335199	70333497	AGTTTCCC others(17): Show AGTTTCCCTGTGGGTATGAGATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0235 a0001c0001t0025g0235	1	358	0.0028	-24	c.72 others(35): Show c.7222_*7245delGTTTCCCTGTGGGTATGAGATTAT	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding		3299		chr18	TogoVar
SOCS7_chr17_38346844_38410593	38381346	GAGACTAT others(17): Show GAGACTATTAGGGTGAGGAAGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(7): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG02559.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0005g0029 others(7): Show a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0005g0029 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0005g0034 a0001c0002t0005g0035 a0001c0002t0005g0036	10	289	0.0346	-24	c.168 others(43): Show c.1681+3507_1681+3530delACTATTAGGGTGAGGAAGAGGTAG	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38409340	CTCGCGTA others(17): Show CTCGCGTATAAGGATTCCAGTGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	289	0.0035	-24	c.98 others(35): Show c.9859_*9882delTCGCGTATAAGGATTCCAGTGCAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding		3748		chr17	TogoVar
SOGA1_chr20_36772447_36868538	36858461	AAAACACA others(17): Show AAAACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02809.hp1 others(3): Show HG01070.hp2 HG01071.hp2 HG02809.hp1 HG02976.hp2 HG03540.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0022 a0002c0004 a0001c0001 a0001c0022 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0022t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0022t0001 a0002c0004t0012	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0003g0036 others(3): Show a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0022t0001g0271 a0002c0004t0012g0094	6	282	0.0213	-24	c.687 others(41): Show c.687+4173_687+4196delGTGTGTGTGTGTGTGTGTGTGTTT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG01934.hp1 others(20): Show HG00280.hp1 HG00621.hp2 HG01934.hp1 HG01981.hp2 HG02027.hp1 HG02135.hp2 HG02273.hp2 HG02559.hp1 HG02970.hp1 HG03579.hp2 HG03927.hp2 HG03942.hp1 HG06807.hp1 NA18522.hp2 NA18962.hp1 NA18974.hp2 NA18975.hp2 NA18986.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19079.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0026	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0001c0019 a0002c0003 a0004c0005 a0026c0051	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0014t0001 a0001c0019t0001 a0002c0003t0001 a0004c0005t0001 a0026c0051t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0022 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0096 a0001c0001t0001g0169 a0001c0001t0003g0003 a0001c0002t0001g0002 a0001c0002t0001g0128 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0143 a0001c0002t0001g0147 a0001c0009t0001g0027 a0001c0014t0001g0001 a0001c0019t0001g0002 a0002c0003t0001g0004 a0002c0003t0001g0024 a0002c0003t0001g0050 a0002c0003t0001g0191 a0004c0005t0001g0113 a0026c0051t0001g0067	23	364	0.0632	-24	c.11 others(35): Show c.1181_*1204delACACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185731856	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0004 a0001c0015t0004	a0001c0015t0004g0082 a0001c0015t0004g0082	1	312	0.0032	-24	c.-41 others(41): Show c.-41+2219_-41+2242delTATATATATATATAGAGAGAGAGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185731858	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0287 a0001c0009t0004g0287	1	312	0.0032	-24	c.-41 others(41): Show c.-41+2217_-41+2240delTATATATATATATATAGAGAGAGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORCS1_chr10_106568663_107169706	106606274	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0115 a0001c0004t0002g0115	1	130	0.0077	-24	c.316 others(41): Show c.3165+868_3165+891delGTGTGTGTGTGTGTGTGTGTGTGT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	23/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106926848	CACACACA others(17): Show CACACACACACACACACACAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG02886.hp1 others(3): Show HG02559.hp1 HG02622.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0014 others(1): Show a0001c0001 a0001c0004 a0001c0014 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0004t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0007 a0001c0004t0013 a0001c0014t0001 a0002c0006t0001	a0001c0001t0002g0061 a0001c0001t0004g0060 a0001c0004t0007g0046 others(3): Show a0001c0001t0002g0061 a0001c0001t0004g0060 a0001c0004t0007g0046 a0001c0004t0013g0013 a0001c0014t0001g0068 a0002c0006t0001g0017	6	130	0.0462	-24	c.626 others(43): Show c.626+29641_626+29664delCTCTCTGTGTGTGTGTGTGTGTGT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7345565	CTAGACAA others(17): Show CTAGACAAGTCCTAGGACCTCTCCA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG03225.hp2 HG02630.hp1 HG02886.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0029 a0001c0001 a0001c0029	a0001c0001t0018 a0001c0001t0072 a0001c0029t0074 a0001c0001t0018 a0001c0001t0072 a0001c0029t0074	a0001c0001t0018g0011 a0001c0001t0072g0161 a0001c0029t0074g0162 a0001c0001t0018g0011 a0001c0001t0072g0161 a0001c0029t0074g0162	3	168	0.0179	-24	c.481 others(43): Show c.481-50698_481-50675delTAGACAAGTCCTAGGACCTCTCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7374108	ATTCTTTC others(17): Show ATTCTTTCTTTCTTTCTTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp1 others(23): Show HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01891.hp1 HG01981.hp2 HG02015.hp2 HG02132.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03540.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA19000.hp1 NA19066.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0001c0030 a0001c0041 a0001c0048 a0002c0004 a0005c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0002t0002 a0001c0002t0003 a0001c0002t0047 a0001c0003t0005 a0001c0003t0011 a0001c0003t0019 a0001c0003t0022 a0001c0005t0007 a0001c0010t0027 a0001c0010t0073 a0001c0011t0016 a0001c0015t0011 a0001c0017t0005 a0001c0030t0040 a0001c0041t0013 a0001c0048t0001 a0002c0004t0008 a0002c0004t0012 a0005c0008t0001	a0001c0001t0002g0089 a0001c0001t0004g0138 a0001c0001t0007g0063 others(23): Show a0001c0001t0002g0089 a0001c0001t0004g0138 a0001c0001t0007g0063 a0001c0001t0018g0011 a0001c0001t0018g0099 a0001c0002t0002g0062 a0001c0002t0003g0131 a0001c0002t0047g0020 a0001c0003t0005g0079 a0001c0003t0011g0080 a0001c0003t0019g0023 a0001c0003t0022g0043 a0001c0005t0007g0065 a0001c0005t0007g0154 a0001c0010t0027g0105 a0001c0010t0073g0167 a0001c0011t0016g0076 a0001c0015t0011g0002 a0001c0017t0005g0056 a0001c0030t0040g0109 a0001c0041t0013g0031 a0001c0048t0001g0146 a0002c0004t0008g0060 a0002c0004t0008g0078 a0002c0004t0012g0035 a0005c0008t0001g0029	26	168	0.1548	-24	c.481 others(43): Show c.481-22160_481-22137delCCTCTTTCTTTCTTTCTTTCTTTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7657608	GGTGAGTG others(17): Show GGTGAGTGAGTCACTGAATGAGTTA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0034 a0001c0014t0034	a0001c0014t0034g0040 a0001c0014t0034g0040	1	168	0.0060	-24	c.887 others(41): Show c.887+3412_887+3435delCACTGAATGAGTTAGTGAGTGAGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7658257	GAGTGAAT others(17): Show GAGTGAATGAGTCTGTGATTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02559.hp2 others(9): Show HG01261.hp2 HG01891.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG06807.hp1 NA19043.hp1 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0014 a0001c0016 a0003c0042 a0004c0007 a0005c0008 a0005c0045	a0001c0001t0068 a0001c0001t0069 a0001c0002t0004 others(9): Show a0001c0001t0068 a0001c0001t0069 a0001c0002t0004 a0001c0003t0052 a0001c0009t0001 a0001c0010t0027 a0001c0014t0019 a0001c0016t0013 a0003c0042t0003 a0004c0007t0001 a0005c0008t0001 a0005c0045t0001	a0001c0001t0068g0007 a0001c0001t0069g0092 a0001c0002t0004g0018 others(9): Show a0001c0001t0068g0007 a0001c0001t0069g0092 a0001c0002t0004g0018 a0001c0003t0052g0147 a0001c0009t0001g0151 a0001c0010t0027g0105 a0001c0014t0019g0139 a0001c0016t0013g0039 a0003c0042t0003g0066 a0004c0007t0001g0026 a0005c0008t0001g0006 a0005c0045t0001g0148	12	168	0.0714	-24	c.888 others(41): Show c.888-3231_888-3208delCTGTGATTGAGCAAGTGAATGAGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676890	GCCTCTCT others(17): Show GCCTCTCTCTCTCTCTCCCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0074 a0001c0029t0074	a0001c0029t0074g0162 a0001c0029t0074g0162	1	168	0.0060	-24	c.134 others(41): Show c.1341+670_1341+693delTCTCTCTCCCTCTCTCCCTCTCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724123	GGTGGTGG others(17): Show GGTGGTGGTGGTGGTGGTGATGGTC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	168	0.0060	-24	c.261 others(41): Show c.2611+256_2611+279delGTGATGGTCGTGGTGGTGGTGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01106.hp2 others(17): Show HG00609.hp1 HG00741.hp1 HG01106.hp2 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG01884.hp2 HG02280.hp2 HG02738.hp1 HG02809.hp2 HG03225.hp1 HG03453.hp2 HG03688.hp2 HG04184.hp2 HG06807.hp2 NA18943.hp2 NA18970.hp2 NA18995.hp2 NA19004.hp1 NA19012.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0008 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0005t0001 a0003c0008t0001 a0009c0019t0002	a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0122 others(17): Show a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0001t0004g0125 a0001c0002t0001g0089 a0001c0002t0003g0070 a0001c0002t0003g0128 a0001c0005t0001g0092 a0003c0008t0001g0005 a0003c0008t0001g0126 a0009c0019t0002g0109	20	134	0.1493	-24	c.627 others(43): Show c.627+42856_627+42879delTTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45038126	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	308	0.0033	-24	c.67- others(39): Show c.67-2236_67-2213delCTTCCTTCCTTCCTTCCTTCCTTC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORD_chr15_45018195_45082185	45077204	ATTATTTC others(17): Show ATTATTTCCTGAAGTTATTAATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00642.hp2 others(85): Show HG00438.hp1 HG00558.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18951.hp1 NA18966.hp1 NA18967.hp1 NA18982.hp1 NA18989.hp1 NA18990.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19068.hp2 NA19078.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0002c0004 others(5): Show a0001c0001 a0002c0002 a0002c0004 a0002c0007 a0003c0003 a0004c0005 a0004c0006 a0005c0012	a0001c0001t0004 a0001c0001t0005 a0001c0001t0042 others(23): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0042 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0020 a0002c0002t0023 a0002c0002t0037 a0002c0002t0040 a0002c0002t0044 a0002c0004t0004 a0002c0007t0010 a0003c0003t0005 a0003c0003t0015 a0003c0003t0041 a0004c0005t0004 a0004c0006t0002 a0004c0006t0011 a0004c0006t0012 a0004c0006t0039 a0005c0012t0002	a0001c0001t0004g0080 a0001c0001t0005g0086 a0001c0001t0005g0139 others(81): Show a0001c0001t0004g0080 a0001c0001t0005g0086 a0001c0001t0005g0139 a0001c0001t0005g0285 a0001c0001t0042g0249 a0002c0002t0002g0010 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0116 a0002c0002t0002g0227 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0243 a0002c0002t0002g0255 a0002c0002t0002g0276 a0002c0002t0003g0001 a0002c0002t0003g0027 a0002c0002t0003g0091 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0237 a0002c0002t0003g0252 a0002c0002t0003g0262 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0292 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0006g0239 a0002c0002t0006g0240 a0002c0002t0006g0241 a0002c0002t0006g0242 a0002c0002t0006g0246 a0002c0002t0011g0251 a0002c0002t0011g0293 a0002c0002t0012g0260 a0002c0002t0012g0268 a0002c0002t0013g0029 a0002c0002t0013g0030 a0002c0002t0013g0031 a0002c0002t0020g0269 a0002c0002t0023g0273 a0002c0002t0037g0117 a0002c0002t0040g0261 a0002c0002t0044g0258 a0002c0004t0004g0004 a0002c0004t0004g0015 a0002c0004t0004g0016 a0002c0004t0004g0017 a0002c0004t0004g0018 a0002c0004t0004g0019 a0002c0004t0004g0020 a0002c0004t0004g0022 a0002c0004t0004g0067 a0002c0007t0010g0087 a0002c0007t0010g0097 a0002c0007t0010g0098 a0002c0007t0010g0278 a0003c0003t0005g0093 a0003c0003t0005g0094 a0003c0003t0005g0095 a0003c0003t0005g0254 a0003c0003t0005g0256 a0003c0003t0005g0257 a0003c0003t0005g0259 a0003c0003t0015g0009 a0003c0003t0041g0253 a0004c0005t0004g0021 a0004c0006t0002g0295 a0004c0006t0011g0250 a0004c0006t0012g0267 a0004c0006t0039g0118 a0005c0012t0002g0103	88	308	0.2857	-24	c.36 others(35): Show c.3675_*3698delTTATTTCCTGAAGTTATTAATATG	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding		20		chr15	TogoVar
SORT1_chr1_109304575_109402918	109378699	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG02040.hp1 others(11): Show HG00609.hp2 HG01069.hp1 HG02040.hp1 HG02602.hp1 HG02615.hp1 HG03225.hp2 HG03490.hp1 HG03704.hp1 HG03927.hp2 NA18946.hp2 NA18950.hp1 NA19065.hp1 NA20805.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0007c0014	a0001c0001t0001 a0001c0001t0028 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0028 a0001c0002t0003 a0001c0002t0006 a0001c0005t0038 a0007c0014t0003	a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0124 others(11): Show a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0028g0123 a0001c0002t0003g0195 a0001c0002t0003g0205 a0001c0002t0003g0207 a0001c0002t0003g0214 a0001c0002t0003g0218 a0001c0002t0003g0220 a0001c0002t0003g0222 a0001c0002t0006g0221 a0001c0005t0038g0163 a0007c0014t0003g0198	14	240	0.0583	-24	c.307 others(41): Show c.307-9134_307-9111delATATATATATATATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS2_chr14_50112130_50236578	50131546	GCTCAAAC others(17): Show GCTCAAACATATCTAGTTTGAGATA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp1 HG02683.hp1 others(5): Show HG02071.hp2 HG02132.hp1 HG02683.hp1 HG03098.hp2 NA18963.hp1 NA18971.hp1 NA19054.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0013t0012	a0001c0001t0001g0239 a0001c0002t0001g0097 a0001c0003t0001g0323 others(5): Show a0001c0001t0001g0239 a0001c0002t0001g0097 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0341 a0001c0013t0012g0380	8	382	0.0209	-24	c.307 others(41): Show c.3076-808_3076-785delTATCTCAAACTAGATATGTTTGAG	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	19/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50178664	GTGTGTGC others(17): Show GTGTGTGCATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	382	0.0026	-24	c.969 others(41): Show c.969+1884_969+1907delTATATATATATATATATGCACACA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50178666	GTGTGCAT others(17): Show GTGTGCATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00639.hp1 others(56): Show HG00140.hp2 HG00544.hp2 HG00639.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01257.hp1 HG01346.hp2 HG01943.hp1 HG01975.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02523.hp2 HG02698.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp1 NA18943.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18974.hp1 NA18975.hp2 NA18983.hp2 NA18985.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19012.hp2 NA19063.hp1 NA19070.hp1 NA19078.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0012 a0007c0008 a0001c0001 a0005c0012 a0007c0008	a0001c0001t0001 a0005c0012t0001 a0007c0008t0001 a0001c0001t0001 a0005c0012t0001 a0007c0008t0001	a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0230 others(56): Show a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0347 a0001c0001t0001g0358 a0005c0012t0001g0296 a0007c0008t0001g0255	59	382	0.1545	-24	c.969 others(41): Show c.969+1882_969+1905delTATATATATATATATATATGCACA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50178668	GTGCATAT others(17): Show GTGCATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02451.hp2 HG02683.hp1 others(1): Show HG01192.hp1 HG02451.hp2 HG02683.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0239 a0001c0001t0001g0273 others(1): Show a0001c0001t0001g0122 a0001c0001t0001g0239 a0001c0001t0001g0273 a0001c0001t0001g0302	4	382	0.0105	-24	c.969 others(41): Show c.969+1880_969+1903delTATATATATATATATATATATGCA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOSTDC1_chr7_16456481_16470738	16470044	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03195.hp1 others(2): Show HG02896.hp2 HG02897.hp1 HG03195.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0022	5	422	0.0119	-24	c.-44 others(35): Show c.-4400_-4377delTATATATATATATATATATATATA	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		4307		chr7	TogoVar
SOWAHB_chr4_76889152_76903144	76900843	AAAAAAAA others(17): Show AAAAAAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01884.hp1 HG02145.hp2 others(1): Show HG01192.hp2 HG01884.hp1 HG02145.hp2 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0010 a0003c0003t0004 a0002c0002t0010 a0003c0003t0004	a0002c0002t0010g0000 a0003c0003t0004g0000 a0002c0002t0010g0000 a0003c0003t0004g0000	4	438	0.0091	-24	c.-30 others(35): Show c.-3018_-2995delGTTTTTTTTTTTTTTGTTTTTTTT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2700		chr4	TogoVar
SOX18_chr20_64042582_64054639	64053497	CCAGTCGT others(17): Show CCAGTCGTCGTGTGGTGTCAGGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02976.hp2 HG03453.hp2 others(2): Show HG02486.hp1 HG02976.hp2 HG03453.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0003t0001g0010 a0001c0001t0001g0002 a0001c0003t0001g0010	5	352	0.0142	-24	c.-40 others(35): Show c.-4005_-3982delACACCTGACACCACACGACGACTG	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		3859		chr20	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02145.hp1 HG02451.hp1 others(14): Show HG02056.hp1 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG03098.hp2 HG03130.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG04228.hp1 NA18522.hp2 NA18952.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0001g0000 a0001c0001t0006g0000	17	412	0.0413	-24	c.21 others(35): Show c.2120_*2143delTTTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23570924	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18942.hp2 HG02083.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0052 a0001c0001t0029 a0001c0002t0052	a0001c0001t0029g0143 a0001c0002t0052g0124 a0001c0001t0029g0143 a0001c0002t0052g0124	2	212	0.0094	-24	c.134 others(43): Show c.1342+4713_1342+4736delATATATATATATATATATTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570928	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0087 a0001c0001t0057g0087	1	212	0.0047	-24	c.134 others(43): Show c.1342+4709_1342+4732delATATATATATATATATATATATTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570930	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19005.hp2 NA18944.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0014 a0001c0001t0019	a0001c0001t0014g0097 a0001c0001t0019g0066 a0001c0001t0014g0097 a0001c0001t0019g0066	2	212	0.0094	-24	c.134 others(43): Show c.1342+4707_1342+4730delATATATATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23723581	TACACACA others(17): Show TACACACACACACACACACGCACTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04204.hp1 HG02602.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0039 a0001c0001t0014 a0001c0001t0039	a0001c0001t0014g0128 a0001c0001t0039g0004 a0001c0001t0014g0128 a0001c0001t0039g0004	2	212	0.0094	-24	c.810 others(43): Show c.810+11079_810+11102delGAGTGCGTGTGTGTGTGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23804915	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01069.hp1 others(23): Show HG00597.hp2 HG00609.hp1 HG01069.hp1 HG01071.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02602.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18973.hp1 NA18994.hp1 NA19010.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0040 a0001c0001t0071 a0001c0001t0081 a0001c0001t0100 a0001c0001t0105 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0002t0005 a0001c0002t0048	a0001c0001t0001g0108 a0001c0001t0002g0194 a0001c0001t0003g0093 others(23): Show a0001c0001t0001g0108 a0001c0001t0002g0194 a0001c0001t0003g0093 a0001c0001t0004g0210 a0001c0001t0007g0198 a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0013g0177 a0001c0001t0014g0097 a0001c0001t0014g0109 a0001c0001t0015g0091 a0001c0001t0015g0102 a0001c0001t0024g0078 a0001c0001t0026g0127 a0001c0001t0027g0106 a0001c0001t0031g0031 a0001c0001t0040g0046 a0001c0001t0071g0014 a0001c0001t0081g0193 a0001c0001t0100g0096 a0001c0001t0105g0063 a0001c0001t0117g0083 a0001c0001t0118g0007 a0001c0001t0120g0107 a0001c0002t0005g0101 a0001c0002t0048g0113	26	212	0.1226	-24	c.481 others(43): Show c.481+41044_481+41067delTATATATATATATATATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23863793	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01258.hp2 HG02148.hp1 others(16): Show HG00609.hp1 HG01258.hp2 HG02148.hp1 HG02300.hp2 HG02486.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG03098.hp2 HG03195.hp2 HG04199.hp2 NA18612.hp1 NA18944.hp1 NA18957.hp2 NA18973.hp1 NA18994.hp1 NA19063.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0028 a0001c0001t0034 a0001c0001t0045 a0001c0001t0062 a0001c0001t0064 a0001c0001t0069 a0001c0001t0089 a0001c0001t0091 a0001c0001t0095 a0001c0001t0100 a0001c0001t0111 a0001c0001t0116 a0001c0002t0005	a0001c0001t0001g0172 a0001c0001t0003g0120 a0001c0001t0003g0121 others(16): Show a0001c0001t0001g0172 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0014g0097 a0001c0001t0015g0102 a0001c0001t0022g0176 a0001c0001t0028g0203 a0001c0001t0034g0122 a0001c0001t0045g0103 a0001c0001t0062g0089 a0001c0001t0064g0100 a0001c0001t0069g0098 a0001c0001t0089g0202 a0001c0001t0091g0178 a0001c0001t0095g0079 a0001c0001t0100g0096 a0001c0001t0111g0104 a0001c0001t0116g0123 a0001c0002t0005g0101	19	212	0.0896	-24	c.271 others(43): Show c.271-17624_271-17601delGTGTGTGTGTGTGTGTGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16132262	AGAAAGAA others(17): Show AGAAAGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0044 a0001c0001t0031g0044	1	218	0.0046	-24	c.778 others(43): Show c.778-20363_778-20340delCTTCCTTCCTTCCTTCCTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132266	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	218	0.0046	-24	c.778 others(43): Show c.778-20367_778-20344delCTTCCTTCCTTCCTTCCTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132436	AGAAAGAA others(17): Show AGAAAGAAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	218	0.0046	-24	c.778 others(43): Show c.778-20537_778-20514delCTTTCTTTCTTTCTTTTTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16291229	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00738.hp1 others(32): Show HG00408.hp2 HG00597.hp2 HG00738.hp1 HG01069.hp2 HG01256.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG03139.hp1 HG03704.hp1 NA18612.hp2 NA18941.hp2 NA18948.hp1 NA18964.hp1 NA18971.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19058.hp1 NA19060.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0019 a0001c0004t0003 a0001c0004t0006 a0002c0005t0016	a0001c0001t0001g0176 a0001c0001t0002g0208 a0001c0001t0003g0177 others(32): Show a0001c0001t0001g0176 a0001c0001t0002g0208 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0004g0127 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0193 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0202 a0001c0001t0006g0126 a0001c0001t0006g0128 a0001c0001t0006g0179 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0203 a0001c0001t0007g0129 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0007g0206 a0001c0001t0026g0207 a0001c0001t0027g0181 a0001c0001t0030g0205 a0001c0002t0001g0195 a0001c0002t0003g0191 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0011g0188 a0001c0002t0019g0001 a0001c0004t0003g0200 a0001c0004t0006g0201 a0002c0005t0016g0187	35	218	0.1606	-24	c.445 others(43): Show c.445+27193_445+27216delTATATATATATATATATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349699	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0207 a0001c0001t0026g0207	1	218	0.0046	-24	c.-5+ others(39): Show c.-5+6371_-5+6394delCTTCCTTCTTCCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349703	AGGAAGGA others(17): Show AGGAAGGAAGGAAGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp2 HG00408.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0184 a0001c0001t0007g0206 a0001c0001t0004g0184 a0001c0001t0007g0206	2	218	0.0092	-24	c.-5+ others(39): Show c.-5+6367_-5+6390delCTTCCTTCCTTCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar

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