Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLX1A_chr16_30188875_30202561	30190144	ATATATAT others(27): Show ATATATATTTTAATATATAAATATATTATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG03041.hp2 others(3): Show HG01099.hp2 HG02486.hp1 HG03041.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 a0002c0002t0001g0001	6	194	0.0309	-34	c.-39 others(45): Show c.-3940_-3907delTATATATTTTAATATATAAATATATTATATATAT	SLX1A	ENSG00000132207.18	transcript	ENST00000251303.11	protein_coding		3730		chr16	TogoVar
SLX1A_chr16_30188875_30202561	30190383	ATATAATA others(27): Show ATATAATATATATTATAATATATATTATATTATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	194	0.0052	-34	c.-37 others(45): Show c.-3701_-3668delTATAATATATATTATAATATATATTATATTATAT	SLX1A	ENSG00000132207.18	transcript	ENST00000251303.11	protein_coding		3491		chr16	TogoVar
SLX4IP_chr20_10430305_10633030	10512776	CTCTATAT others(27): Show CTCTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp2 others(135): Show HG00099.hp2 HG00323.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0005c0005 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0008t0007 a0002c0002t0005 a0002c0002t0032 a0003c0003t0007 a0003c0003t0018 a0005c0005t0016 a0008c0007t0001	a0001c0001t0001g0059 a0001c0001t0001g0174 a0001c0001t0001g0213 others(135): Show a0001c0001t0001g0059 a0001c0001t0001g0174 a0001c0001t0001g0213 a0001c0001t0001g0239 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0003g0023 a0001c0001t0003g0047 a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0111 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0131 a0001c0001t0003g0139 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0202 a0001c0001t0003g0217 a0001c0001t0003g0230 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0262 a0001c0001t0004g0122 a0001c0001t0004g0182 a0001c0001t0004g0185 a0001c0001t0007g0079 a0001c0001t0007g0134 a0001c0001t0007g0232 a0001c0001t0007g0233 a0001c0001t0008g0055 a0001c0001t0008g0073 a0001c0001t0008g0083 a0001c0001t0008g0090 a0001c0001t0008g0102 a0001c0001t0008g0170 a0001c0001t0009g0070 a0001c0001t0009g0183 a0001c0001t0010g0101 a0001c0001t0010g0148 a0001c0001t0010g0189 a0001c0001t0010g0190 a0001c0001t0012g0058 a0001c0001t0012g0106 a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0013g0064 a0001c0001t0013g0075 a0001c0001t0014g0260 a0001c0001t0015g0040 a0001c0001t0015g0092 a0001c0001t0015g0188 a0001c0001t0015g0197 a0001c0001t0017g0226 a0001c0001t0018g0019 a0001c0001t0018g0142 a0001c0001t0020g0067 a0001c0001t0020g0167 a0001c0001t0020g0168 a0001c0001t0023g0038 a0001c0001t0023g0066 a0001c0001t0025g0246 a0001c0001t0025g0247 a0001c0001t0026g0219 a0001c0001t0036g0144 a0001c0001t0037g0264 a0001c0001t0038g0080 a0001c0001t0043g0103 a0001c0001t0044g0057 a0001c0001t0045g0085 a0001c0001t0047g0255 a0001c0001t0048g0159 a0001c0001t0057g0218 a0001c0001t0058g0121 a0001c0001t0060g0160 a0001c0001t0061g0044 a0001c0001t0062g0020 a0001c0008t0007g0013 a0002c0002t0005g0028 a0002c0002t0005g0032 a0002c0002t0005g0078 a0002c0002t0005g0112 a0002c0002t0005g0116 a0002c0002t0005g0137 a0002c0002t0005g0220 a0002c0002t0005g0245 a0002c0002t0032g0244 a0003c0003t0007g0035 a0003c0003t0007g0108 a0003c0003t0007g0132 a0003c0003t0018g0008 a0005c0005t0016g0250 a0005c0005t0016g0254 a0008c0007t0001g0065	138	266	0.5188	-34	c.28- others(51): Show c.28-43453_28-43420delCTATATATATATATATATATATATATAT ATATAT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX9_chr21_44935029_44981973	44947533	GTGGCATC others(27): Show GTGGCATCGTTCCTATCCTGTGACTGACAAGTTCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01891.hp1 others(7): Show HG01109.hp1 HG01884.hp1 HG01891.hp1 HG02630.hp1 HG02647.hp2 HG03471.hp1 HG03486.hp2 NA18984.hp1 NA19007.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0143 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0143 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0203 a0003c0003t0001g0121 a0003c0003t0001g0142	10	334	0.0299	-34	c.283 others(51): Show c.283+3746_283+3779delCCTGTGACTGACAAGTTCATGGCATCGT TCCTAT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850481	TTATATAT others(27): Show TTATATATTATGTATAATATATGTTATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG01975.hp2 others(5): Show HG01074.hp1 HG01884.hp2 HG01975.hp2 HG02145.hp2 HG02258.hp1 HG03516.hp1 NA19070.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0140 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0140 a0001c0001t0149 a0001c0001t0158 a0001c0001t0159 a0001c0001t0166	a0001c0001t0002g0113 a0001c0001t0007g0101 a0001c0001t0007g0102 others(5): Show a0001c0001t0002g0113 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0140g0098 a0001c0001t0149g0042 a0001c0001t0158g0064 a0001c0001t0159g0065 a0001c0001t0166g0043	8	310	0.0258	-34	c.784 others(49): Show c.784+759_784+792delTTATATATATAACATATATTATACATAATA TATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAGP_chr12_51239558_51275415	51248414	ACACACAC others(27): Show ACACACACACACACACACACACTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp1 HG02074.hp2 others(21): Show HG00408.hp1 HG02056.hp1 HG02074.hp2 HG02165.hp1 HG02735.hp2 HG03710.hp1 HG03834.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18969.hp2 NA18980.hp1 NA18985.hp1 NA18994.hp2 NA18999.hp2 NA19012.hp2 NA19054.hp1 NA19064.hp1 NA19079.hp2 NA19080.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0010 a0001c0002t0014 a0001c0002t0005 a0001c0002t0010 a0001c0002t0014	a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0030 others(21): Show a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0005g0034 a0001c0002t0005g0035 a0001c0002t0005g0036 a0001c0002t0005g0037 a0001c0002t0005g0038 a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0002t0005g0047 a0001c0002t0010g0025 a0001c0002t0010g0029 a0001c0002t0010g0043 a0001c0002t0010g0046 a0001c0002t0010g0103 a0001c0002t0010g0199 a0001c0002t0014g0024 a0001c0002t0014g0042 a0001c0002t0014g0045 a0001c0002t0014g0048	24	410	0.0585	-34	c.35- others(49): Show c.35-1617_35-1584delAGAGAGAGAGAGAGTGTGTGTGTGTGTGTG TGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCA1_chrX_129441506_129528490	129527239	GGCGAGGT others(27): Show GGCGAGGTGGCACCACTGCACCCCAGCCTGGGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	279	0.0036	-34	c.-39 others(45): Show c.-3903_-3870delTCGCCCAGGCTGGGGTGCAGTGGTGCCACCTCGC	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding		3750		chrX	TogoVar
SMARCC2_chr12_56157359_56194483	56193732	TTTTATTT others(27): Show TTTTATTTTTCGAATAAAATGTATACCTTTCTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	250	0.0040	-34	c.-43 others(45): Show c.-4305_-4272delGGCAGAAAGGTATACATTTTATTCGAAAAATAAA	SMARCC2	ENSG00000139613.12	transcript	ENST00000550164.6	protein_coding		4250		chr12	TogoVar
SMCO4_chr11_93473472_93548391	93514374	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(74): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp2 HG01516.hp1 HG01934.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02486.hp1 HG02523.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03654.hp1 HG03710.hp2 NA18612.hp2 NA18747.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp2 NA18986.hp2 NA18993.hp2 NA18995.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0004 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(61): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0306 a0001c0001t0001g0318 a0001c0001t0001g0350 a0001c0001t0001g0369 a0001c0001t0002g0146 a0001c0001t0003g0010 a0001c0001t0003g0052 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0173 a0001c0001t0006g0019 a0001c0001t0006g0125 a0001c0001t0006g0199 a0001c0001t0010g0215 a0001c0001t0010g0224 a0001c0001t0010g0228 a0001c0001t0010g0269 a0001c0001t0010g0329 a0001c0002t0004g0198 a0001c0002t0004g0346 a0001c0002t0004g0347 a0001c0002t0004g0348 a0001c0002t0004g0349 a0002c0004t0001g0266	77	412	0.1869	-34	c.-15 others(55): Show c.-153-15060_-153-15027delTATATATATATATATATATATATA TATATATATA	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMIM12_chr1_34845362_34864749	34845747	GGGACGAG others(27): Show GGGACGAGGACCCAACACCAGCCTCTCCCCAGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-34	c.99 others(45): Show c.9918_*9951delACCCTGGGGAGAGGCTGGTGTTGGGTCCTCGTCC	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding		4614		chr1	TogoVar
SMOC1_chr14_69874416_70037366	69878699	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp1 others(19): Show HG00140.hp2 HG00280.hp1 HG00639.hp1 HG02074.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03704.hp1 HG04184.hp2 HG04228.hp2 NA18940.hp2 NA18953.hp1 NA18956.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA19089.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0029 a0001c0002t0002 a0001c0003t0002 a0001c0004t0005	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0003g0016 a0001c0001t0004g0013 a0001c0001t0004g0015 a0001c0001t0004g0019 a0001c0001t0005g0010 a0001c0001t0029g0021 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0003t0002g0014 a0001c0004t0005g0024	22	270	0.0815	-34	c.-97 others(43): Show c.-979_-946delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		716		chr14	TogoVar
SMOC1_chr14_69874416_70037366	69961270	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	270	0.0037	-34	c.378 others(51): Show c.378+7740_378+7773delGTATATATATATATATATATATATATAT ATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMPD1_chr11_6385474_6399996	6387249	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02572.hp2 HG02622.hp1 others(2): Show HG00639.hp1 HG02572.hp2 HG02622.hp1 HG03130.hp1 HG03225.hp2	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0018	a0002c0002 a0003c0007 a0010c0012 others(1): Show a0002c0002 a0003c0007 a0010c0012 a0018c0025	a0002c0002t0001 a0003c0007t0003 a0010c0012t0002 others(1): Show a0002c0002t0001 a0003c0007t0003 a0010c0012t0002 a0018c0025t0002	a0002c0002t0001g0001 a0003c0007t0003g0006 a0010c0012t0002g0035 others(2): Show a0002c0002t0001g0001 a0003c0007t0003g0006 a0010c0012t0002g0035 a0010c0012t0002g0041 a0018c0025t0002g0012	5	388	0.0129	-34	c.-33 others(45): Show c.-3349_-3316delATATATATATATATATATATATATATATATATAT	SMPD1	ENSG00000166311.10	transcript	ENST00000342245.9	protein_coding		3224		chr11	TogoVar
SMR3B_chr4_70378131_70395244	70392394	AGCAAAAA others(27): Show AGCAAAAAAAACAAATAACCCCATTAAAAAAATAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	462	0.0022	-34	c.25 others(45): Show c.2547_*2580delGCAAAAAAAACAAATAACCCCATTAAAAAAATAG	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		2151		chr4	TogoVar
SMTNL2_chr17_4579529_4613319	4592219	GTCACTTT others(27): Show GTCACTTTCTTCCTGGGGGCTGTTTTCTCTCAACA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0128 a0001c0008t0001g0128	1	442	0.0023	-34	c.400 others(49): Show c.400-140_400-107delCACTTTCTTCCTGGGGGCTGTTTTCTCTCA ACAT	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMUG1_chr12_54175366_54193985	54188267	AAATAATA others(27): Show AAATAATAATAATAATAATAATAATAATAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02818.hp1 HG03139.hp1 others(2): Show HG01346.hp1 HG02818.hp1 HG03139.hp1 NA18953.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0129 others(2): Show a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0129 a0001c0001t0004g0202 a0001c0001t0004g0203	5	438	0.0114	-34	c.-10 others(51): Show c.-103-399_-103-366delATTATTTATTATTATTATTATTATTATT ATTATT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0195 a0001c0001t0034g0195	1	264	0.0038	-34	c.56- others(49): Show c.56-1438_56-1405delTATATATATATATATATATATATATATATA TATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD1_chr2_88062825_88118384	88065220	CCCCCCCT others(27): Show CCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0021 a0001c0011t0002g0021	1	338	0.0030	-34	c.-26 others(45): Show c.-2644_-2611delCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2604		chr2	TogoVar
SMYD1_chr2_88062825_88118384	88065233	CCCCTCCC others(27): Show CCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0073 a0001c0003t0003g0073	1	338	0.0030	-34	c.-26 others(45): Show c.-2631_-2598delCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2591		chr2	TogoVar
SNAI1_chr20_49977980_49993886	49978464	CATATATA others(27): Show CATATATACATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG01361.hp2 others(27): Show HG01243.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA19030.hp1 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0010 a0002c0002t0002 a0002c0002t0015 others(1): Show a0001c0001t0010 a0002c0002t0002 a0002c0002t0015 a0005c0004t0002	a0001c0001t0010g0009 a0002c0002t0002g0006 a0002c0002t0002g0008 others(4): Show a0001c0001t0010g0009 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0017 a0002c0002t0015g0018 a0005c0004t0002g0019	30	440	0.0682	-34	c.-45 others(45): Show c.-4595_-4562delATATATACATATATATATATATATATATATATAT	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		4515		chr20	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	258	0.0039	-34	c.732 others(49): Show c.732-446_732-413delATATATATATATATATATATATATATATAT ATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02559.hp1 HG00735.hp1 HG02559.hp1	a0003 a0010 a0003 a0010	a0003c0008 a0010c0012 a0003c0008 a0010c0012	a0003c0008t0001 a0010c0012t0001 a0003c0008t0001 a0010c0012t0001	a0003c0008t0001g0095 a0010c0012t0001g0066 a0003c0008t0001g0095 a0010c0012t0001g0066	2	190	0.0105	-34	c.72+ others(51): Show c.72+54774_72+54807delTATATATATATATATATATATATATATA TATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056278	GGCCGCGC others(27): Show GGCCGCGCCGTGCTGTGGGGAGGGAGGGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02717.hp1 HG02886.hp1 others(4): Show HG01169.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03540.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0084 a0001c0002t0001g0133 a0005c0006t0001g0081 others(4): Show a0001c0002t0001g0084 a0001c0002t0001g0133 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086	7	190	0.0368	-34	c.73- others(51): Show c.73-27238_73-27205delCCGCGCCGTGCTGTGGGGAGGGAGGGAG GGAGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842521	AGAGAAAG others(27): Show AGAGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0077 a0001c0002t0003g0077	1	306	0.0033	-34	c.-53 others(43): Show c.-530_-497delGCTCTCTCCCTCGCTCGTTTTCTTTCTCTTTCTC	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		337		chr8	TogoVar
SNX18_chr5_54512759_54551586	54513607	ATATATAT others(27): Show ATATATATTTATATATAATATATAAATTTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01261.hp1 HG02280.hp1 others(12): Show HG01167.hp2 HG01261.hp1 HG02280.hp1 HG02486.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA19030.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0003t0006 a0001c0004t0023 others(2): Show a0001c0002t0001 a0001c0003t0006 a0001c0004t0023 a0001c0006t0001 a0001c0006t0008	a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0046 others(11): Show a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0046 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0003t0006g0020 a0001c0004t0023g0126 a0001c0006t0001g0030 a0001c0006t0001g0048 a0001c0006t0008g0011	15	390	0.0385	-34	c.-43 others(45): Show c.-4345_-4312delTATATATTTATATATAATATATAAATTTATATAT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4151		chr5	TogoVar
SNX18_chr5_54512759_54551586	54514144	AATTTATA others(27): Show AATTTATATAATATATAAATATATATGATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00609.hp2 others(38): Show HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01175.hp1 HG01496.hp2 HG01884.hp2 HG02074.hp1 HG02109.hp1 HG02300.hp2 HG02622.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18965.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18998.hp2 NA19000.hp2 NA19006.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19082.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 others(14): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0014 a0001c0002t0044 a0001c0004t0001 a0001c0004t0004 a0001c0004t0008 a0001c0004t0011 a0001c0004t0012 a0001c0004t0017 a0001c0004t0018 a0001c0004t0020 a0001c0004t0023 a0001c0004t0025 a0001c0004t0038 a0001c0006t0001	a0001c0002t0001g0004 a0001c0002t0006g0164 a0001c0002t0008g0002 others(30): Show a0001c0002t0001g0004 a0001c0002t0006g0164 a0001c0002t0008g0002 a0001c0002t0014g0163 a0001c0002t0044g0159 a0001c0004t0001g0003 a0001c0004t0001g0014 a0001c0004t0001g0021 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0044 a0001c0004t0001g0045 a0001c0004t0001g0130 a0001c0004t0001g0134 a0001c0004t0004g0025 a0001c0004t0004g0124 a0001c0004t0008g0021 a0001c0004t0008g0131 a0001c0004t0011g0025 a0001c0004t0012g0125 a0001c0004t0017g0027 a0001c0004t0017g0028 a0001c0004t0017g0045 a0001c0004t0018g0123 a0001c0004t0018g0129 a0001c0004t0018g0132 a0001c0004t0020g0127 a0001c0004t0023g0126 a0001c0004t0025g0122 a0001c0004t0025g0128 a0001c0004t0038g0014 a0001c0006t0001g0166	41	390	0.1051	-34	c.-38 others(45): Show c.-3808_-3775delATTTATATAATATATAAATATATATGATATATAT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3614		chr5	TogoVar
SNX25_chr4_185204598_185368966	185222228	GCCATATA others(27): Show GCCATATACCCCTCCTTCGCGGTAGGTATACAGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(180): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0011 a0012 a0013	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0001c0014 a0002c0002 a0003c0004 a0003c0007 a0005c0008 a0006c0019 a0007c0018 a0008c0017 a0011c0013 a0012c0012 a0013c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0006t0001 a0001c0009t0001 a0001c0014t0001 a0002c0002t0001 a0002c0002t0004 a0003c0004t0001 a0003c0007t0001 a0005c0008t0001 a0006c0019t0005 a0007c0018t0001 a0008c0017t0001 a0011c0013t0001 a0012c0012t0001 a0013c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(178): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0154 a0001c0001t0002g0165 a0001c0001t0006g0159 a0001c0003t0001g0067 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0085 a0001c0003t0001g0097 a0001c0003t0001g0111 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0151 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0001g0168 a0001c0003t0001g0184 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0009t0001g0233 a0001c0014t0001g0066 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0004g0258 a0003c0004t0001g0214 a0003c0004t0001g0249 a0003c0007t0001g0077 a0003c0007t0001g0189 a0005c0008t0001g0014 a0005c0008t0001g0015 a0006c0019t0005g0267 a0007c0018t0001g0068 a0008c0017t0001g0003 a0011c0013t0001g0131 a0012c0012t0001g0130 a0013c0011t0001g0115	183	276	0.6630	-34	c.429 others(53): Show c.429+12016_429+12049delCCCTCCTTCGCGGTAGGTATACAGCA CCATATAC	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX25_chr4_185204598_185368966	185222393	ACAGCGCC others(27): Show ACAGCGCCCTATACCCCTCCCTCTCGGTAGGTATT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	276	0.0036	-34	c.429 others(53): Show c.429+12161_429+12194delTCGGTAGGTATTCAGCGCCCTATACC CCTCCCTC	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX25_chr4_185204598_185368966	185222432	GCCCTATA others(27): Show GCCCTATACCCCTCCCTCGCGGTAGGTATTCAGCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	276	0.0036	-34	c.429 others(53): Show c.429+12195_429+12228delGCGGTAGGTATTCAGCACCCTATACC CCTCCCTC	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(71): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02735.hp2 HG02886.hp2 HG03239.hp1 HG03492.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19064.hp1 NA19080.hp1 NA19084.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 others(32): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0059 a0001c0001t0076 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0122 a0001c0001t0125 a0001c0001t0128 a0001c0001t0131 a0001c0001t0179 a0002c0002t0006 a0002c0002t0048	a0001c0001t0006g0001 a0001c0001t0006g0189 a0001c0001t0007g0214 others(69): Show a0001c0001t0006g0001 a0001c0001t0006g0189 a0001c0001t0007g0214 a0001c0001t0007g0216 a0001c0001t0007g0220 a0001c0001t0007g0228 a0001c0001t0007g0233 a0001c0001t0007g0253 a0001c0001t0009g0008 a0001c0001t0009g0196 a0001c0001t0009g0202 a0001c0001t0009g0217 a0001c0001t0009g0224 a0001c0001t0009g0232 a0001c0001t0010g0221 a0001c0001t0010g0227 a0001c0001t0010g0229 a0001c0001t0010g0240 a0001c0001t0010g0358 a0001c0001t0014g0194 a0001c0001t0014g0209 a0001c0001t0014g0212 a0001c0001t0014g0246 a0001c0001t0014g0248 a0001c0001t0029g0205 a0001c0001t0029g0244 a0001c0001t0029g0273 a0001c0001t0030g0198 a0001c0001t0030g0210 a0001c0001t0030g0258 a0001c0001t0033g0213 a0001c0001t0033g0223 a0001c0001t0033g0254 a0001c0001t0034g0211 a0001c0001t0034g0225 a0001c0001t0034g0241 a0001c0001t0040g0249 a0001c0001t0040g0252 a0001c0001t0046g0190 a0001c0001t0046g0192 a0001c0001t0047g0191 a0001c0001t0047g0193 a0001c0001t0049g0236 a0001c0001t0049g0237 a0001c0001t0050g0207 a0001c0001t0051g0215 a0001c0001t0051g0272 a0001c0001t0052g0235 a0001c0001t0053g0230 a0001c0001t0053g0245 a0001c0001t0059g0206 a0001c0001t0059g0251 a0001c0001t0076g0186 a0001c0001t0099g0101 a0001c0001t0100g0247 a0001c0001t0101g0203 a0001c0001t0106g0239 a0001c0001t0107g0271 a0001c0001t0108g0201 a0001c0001t0109g0007 a0001c0001t0110g0256 a0001c0001t0111g0222 a0001c0001t0122g0231 a0001c0001t0125g0204 a0001c0001t0128g0226 a0001c0001t0131g0242 a0001c0001t0179g0257 a0002c0002t0006g0002 a0002c0002t0006g0197 a0002c0002t0006g0250 a0002c0002t0048g0218 a0002c0002t0048g0219	74	366	0.2022	-34	c.115 others(53): Show c.1150-7066_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12512367	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0014 a0001c0001t0030g0014	1	176	0.0057	-34	c.217 others(55): Show c.2179-12333_2179-12300delAATATATATATATATATATATATA TATATATATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX4_chr3_125441650_125525202	125506832	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAGATGTATGAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02148.hp2 HG03098.hp2 others(1): Show HG02109.hp1 HG02148.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191	4	360	0.0111	-34	c.142 others(51): Show c.142-2122_142-2089delGTTCATACATCTTTTTTTTTTTTTTTTT TTTTTT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	1/13			chr3	TogoVar
SNX6_chr14_34556093_34635148	34606571	GCCTCCCG others(27): Show GCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	322	0.0031	-34	c.271 others(49): Show c.271-888_271-855delTGGCACATGCCTGTAATCCCAGCTACTCGG GAGG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding	4/13			chr14	TogoVar
SOBP_chr6_107485117_107666306	107656336	AAAGAAAG others(27): Show AAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01261.hp1 others(8): Show HG00423.hp2 HG00642.hp1 HG01261.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG03130.hp2 NA18977.hp2 NA19005.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0001t0053	a0001c0001t0001g0219 a0001c0001t0002g0003 a0001c0001t0002g0102 others(8): Show a0001c0001t0001g0219 a0001c0001t0002g0003 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0180 a0001c0001t0002g0221 a0001c0001t0003g0121 a0001c0001t0003g0222 a0001c0001t0005g0023 a0001c0001t0018g0076 a0001c0001t0053g0271	11	296	0.0372	-34	c.4- others(49): Show c.4-1867_*4-1834delAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG TAAG	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS1_chr16_11249417_11261204	11253116	AAGAAAAG others(27): Show AAGAAAAGAAAAGAAAAAGCAAGATTTTTGGAGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	432	0.0023	-34	c.16 others(45): Show c.1693_*1726delATCTCCAAAAATCTTGCTTTTTCTTTTCTTTTCT	SOCS1	ENSG00000185338.7	transcript	ENST00000332029.4	protein_coding		1300		chr16	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01074.hp2 others(14): Show HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp2 HG01516.hp2 HG01517.hp2 HG02572.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 NA18953.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19079.hp2 NA20905.hp1	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0001c0011 a0001c0036 others(2): Show a0001c0001 a0001c0011 a0001c0036 a0002c0003 a0021c0042	a0001c0001t0001 a0001c0011t0001 a0001c0036t0001 others(2): Show a0001c0001t0001 a0001c0011t0001 a0001c0036t0001 a0002c0003t0001 a0021c0042t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0225 a0001c0011t0001g0035 a0001c0036t0001g0117 a0002c0003t0001g0004 a0021c0042t0001g0167	17	364	0.0467	-34	c.11 others(45): Show c.1181_*1214delACACACACACACACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0096 a0004c0009t0002g0097 a0004c0009t0002g0096 a0004c0009t0002g0097	2	134	0.0149	-34	c.627 others(53): Show c.627+42846_627+42879delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX5_chr12_23524504_23954670	23570922	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0082 a0001c0001t0016 a0001c0001t0082	a0001c0001t0016g0147 a0001c0001t0082g0002 a0001c0001t0016g0147 a0001c0001t0082g0002	2	212	0.0094	-34	c.134 others(53): Show c.1342+4705_1342+4738delATATATATATATATATATATATATAT TTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837245	ATATATTT others(27): Show ATATATTTATATTTATATAATATATAATATGTATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp2 HG02895.hp1 others(3): Show HG01243.hp1 HG02647.hp2 HG02895.hp1 HG02896.hp1 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0025 a0001c0001t0044 a0001c0001t0084	a0001c0001t0003g0208 a0001c0001t0004g0209 a0001c0001t0008g0205 others(3): Show a0001c0001t0003g0208 a0001c0001t0004g0209 a0001c0001t0008g0205 a0001c0001t0025g0204 a0001c0001t0044g0206 a0001c0001t0084g0207	6	212	0.0283	-34	c.481 others(51): Show c.481+8704_481+8737delAATACATATTATATATTATATAAATATA AATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03579.hp1 NA18522.hp1 others(1): Show HG01891.hp1 HG03579.hp1 NA18522.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0044 a0001c0002t0001 a0001c0001t0018 a0001c0001t0044 a0001c0002t0001	a0001c0001t0018g0004 a0001c0001t0018g0130 a0001c0001t0044g0218 others(1): Show a0001c0001t0018g0004 a0001c0001t0018g0130 a0001c0001t0044g0218 a0001c0002t0001g0211	4	218	0.0184	-34	c.110 others(53): Show c.1102-7629_1102-7596delTATATATATATATATATATATATATA TATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0004 a0006c0014t0004	a0006c0014t0004g0205 a0006c0014t0004g0205	1	290	0.0035	-34	c.205 others(51): Show c.2053-626_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230396680	CTATTTAA others(27): Show CTATTTAAATTTAAGTAAGTGATAGATGGAAACAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	336	0.0030	-34	c.115 others(49): Show c.1156-75_1156-42delATTTAAATTTAAGTAAGTGATAGATGGAAA CAAT	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA7_chr13_112371355_112439689	112383111	AAAAGAAA others(27): Show AAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01168.hp2 HG01169.hp1 others(5): Show HG00597.hp1 HG01168.hp2 HG01169.hp1 HG01516.hp2 NA18951.hp2 NA19085.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0154 a0002c0002t0001g0156 others(4): Show a0002c0002t0001g0008 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0264	8	391	0.0205	-34	c.94+ others(49): Show c.94+6640_94+6673delAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	214178141	TTTTTAAA others(27): Show TTTTTAAAATGTCATTAAATCTAAATATACCTAAC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03130.hp1 HG03130.hp2 others(3): Show HG02293.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 NA18977.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0072 a0002c0002t0001g0075 a0003c0003t0001g0031	6	86	0.0698	-34	c.172 others(55): Show c.1720+28877_1720+28910delTTTAAAATGTCATTAAATCTAAAT ATACCTAACT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01346.hp2 others(5): Show HG01167.hp2 HG01169.hp1 HG01346.hp2 HG01361.hp2 HG03491.hp1 NA18962.hp2 NA19062.hp2 NA20752.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0001 a0003c0004 a0004c0006 a0002c0001 a0003c0004 a0004c0006	a0002c0001t0001 a0003c0004t0001 a0004c0006t0001 a0002c0001t0001 a0003c0004t0001 a0004c0006t0001	a0002c0001t0001g0006 a0002c0001t0001g0344 a0003c0004t0001g0030 others(4): Show a0002c0001t0001g0006 a0002c0001t0001g0344 a0003c0004t0001g0030 a0003c0004t0001g0040 a0003c0004t0001g0054 a0004c0006t0001g0033 a0004c0006t0001g0057	8	366	0.0219	-34	c.153 others(53): Show c.1535+1099_1535+1132delATATATATATATATATATATATATAT ATATATAT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG6_chr10_22340496_22422610	22346463	CTTCTTCT others(27): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	142	0.0070	-34	c.121 others(49): Show c.121+661_121+694delTTCTTCTTCTTCTTCTTCTTTCTTCTTCTT CTTC	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAST_chr2_32058556_32162637	32110849	ATATAGAG others(27): Show ATATAGAGTATATATACAGTATACTATATCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG02622.hp1 others(3): Show HG01109.hp1 HG02486.hp2 HG02622.hp1 HG03139.hp1 NA19082.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0002g0228 a0001c0001t0004g0194 a0001c0001t0004g0225 others(3): Show a0001c0001t0002g0228 a0001c0001t0004g0194 a0001c0001t0004g0225 a0001c0001t0004g0299 a0001c0001t0011g0004 a0001c0001t0011g0005	6	342	0.0175	-34	c.683 others(51): Show c.683-3556_683-3523delCGTGTGTATAGAGTATATATACAGTATA CTATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111082	CGTGTGTA others(27): Show CGTGTGTATAGAGTATATATACAGTATACTATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01243.hp1 others(9): Show HG00099.hp1 HG00639.hp1 HG01243.hp1 HG01257.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02109.hp2 HG02273.hp2 HG02293.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0221 a0001c0001t0002g0257 a0001c0001t0002g0259 others(9): Show a0001c0001t0002g0221 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0306 a0001c0001t0004g0296	12	342	0.0351	-34	c.683 others(51): Show c.683-3443_683-3410delAGTATATATACAGTATACTATATAGTGT GTATAG	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32111195	AGTATATA others(27): Show AGTATATATACAGTATACTATATAGTGTGTATAGC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG01109.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0011g0004 a0001c0001t0011g0005	2	342	0.0059	-34	c.683 others(51): Show c.683-3356_683-3323delATATAGTGTGTATAGCGTATATATACAG TATACT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA2L_chr16_89691357_89706705	89694806	ACCCGCAG others(27): Show ACCCGCAGCCCCCGCCCGTGCCCACGCCCTCTGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(70): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02965.hp1 HG03130.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18971.hp2 NA19004.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0012 a0001c0016 a0002c0004 a0002c0007 a0002c0011 a0003c0006 a0005c0014 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0003t0001 a0001c0005t0009 a0001c0005t0019 a0001c0008t0003 a0001c0012t0009 a0001c0016t0005 a0002c0004t0003 a0002c0007t0024 a0002c0011t0003 a0003c0006t0008 a0005c0014t0001 a0007c0010t0003	a0001c0001t0001g0012 a0001c0001t0003g0003 a0001c0001t0003g0008 others(27): Show a0001c0001t0001g0012 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0029 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0005g0025 a0001c0001t0005g0085 a0001c0001t0005g0097 a0001c0001t0005g0128 a0001c0001t0016g0054 a0001c0003t0001g0016 a0001c0003t0001g0023 a0001c0005t0009g0101 a0001c0005t0009g0102 a0001c0005t0009g0105 a0001c0005t0019g0104 a0001c0008t0003g0028 a0001c0012t0009g0106 a0001c0016t0005g0099 a0002c0004t0003g0021 a0002c0004t0003g0053 a0002c0007t0024g0070 a0002c0011t0003g0052 a0003c0006t0008g0017 a0003c0006t0008g0050 a0005c0014t0001g0098 a0007c0010t0003g0051	73	418	0.1746	-34	c.24 others(45): Show c.2494_*2527delCGCAGAGGGCGTGGGCACGGGCGGGGGCTGCGGG	SPATA2L	ENSG00000158792.16	transcript	ENST00000289805.10	protein_coding		1550		chr16	TogoVar

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