Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SGMS1_chr10_50300600_50628956	50400396	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03669.hp2 NA19004.hp1 HG02015.hp2 HG03669.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0169 a0001c0001t0002g0095 a0001c0001t0003g0224 a0001c0001t0001g0169 a0001c0001t0002g0095 a0001c0001t0003g0224	3	312	0.0096	-28	c.-23 others(49): Show c.-232+33052_-232+33079delATATATATATATATATATATATAT ATAT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50429714	CACACACA others(21): Show CACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(79): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0158 a0001c0001t0001g0244 others(79): Show a0001c0001t0001g0006 a0001c0001t0001g0158 a0001c0001t0001g0244 a0001c0001t0001g0263 a0001c0001t0002g0129 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0311 a0001c0001t0003g0015 a0001c0001t0003g0066 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0246 a0001c0001t0005g0203 a0001c0001t0005g0207 a0001c0001t0005g0209 a0001c0001t0005g0219 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0155 a0001c0002t0001g0162 a0001c0002t0001g0198 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0239 a0001c0002t0001g0258 a0001c0002t0001g0299 a0001c0002t0001g0310 a0001c0002t0002g0154 a0001c0002t0002g0262 a0001c0002t0003g0218 a0001c0002t0003g0220 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0005g0232 a0001c0003t0001g0064 a0001c0004t0001g0057	82	312	0.2628	-28	c.-23 others(47): Show c.-232+3734_-232+3761delATGTGTGTGTGTGTGTGTGTGTGTGT GT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGSM1_chr22_24801211_24932578	24900340	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG01106.hp2 HG01891.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0014 a0003c0003t0029 a0001c0001t0014 a0003c0003t0029	a0001c0001t0014g0164 a0003c0003t0029g0121 a0001c0001t0014g0164 a0003c0003t0029g0121	2	338	0.0059	-28	c.261 others(47): Show c.2611-1452_2611-1425delTTCTTTCTTTCTTTCTTTCTTTCTTT CT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGTA_chr19_2749715_2788273	2759081	GGTGGTGA others(21): Show GGTGGTGACAGTTGCATGACAGTGTGATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00621.hp2 others(53): Show HG00423.hp1 HG00438.hp1 HG00621.hp2 HG01243.hp1 HG01261.hp2 HG01891.hp1 HG02080.hp1 HG02257.hp1 HG02622.hp2 HG02683.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19086.hp1 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0013 a0001c0003 a0001c0004 a0002c0013	a0001c0003t0003 a0001c0003t0004 a0001c0003t0021 others(3): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0021 a0001c0004t0003 a0001c0004t0017 a0002c0013t0003	a0001c0003t0003g0014 a0001c0003t0003g0029 a0001c0003t0003g0030 others(51): Show a0001c0003t0003g0014 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0051 a0001c0003t0003g0052 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0064 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0142 a0001c0003t0003g0144 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0159 a0001c0003t0003g0160 a0001c0003t0003g0162 a0001c0003t0003g0169 a0001c0003t0003g0177 a0001c0003t0003g0188 a0001c0003t0004g0016 a0001c0003t0004g0170 a0001c0003t0021g0143 a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0129 a0001c0004t0003g0130 a0001c0004t0003g0131 a0001c0004t0003g0132 a0001c0004t0003g0135 a0001c0004t0003g0145 a0001c0004t0003g0146 a0001c0004t0003g0147 a0001c0004t0003g0149 a0001c0004t0003g0150 a0001c0004t0003g0151 a0001c0004t0003g0152 a0001c0004t0003g0161 a0001c0004t0017g0148 a0002c0013t0003g0156	56	396	0.1414	-28	c.737 others(43): Show c.737+148_737+175delTATCACACTGTCATGCAACTGTCACCAC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	9/11			chr19	TogoVar
SH2D1A_chrX_124341563_124378160	124350619	GATAATAT others(21): Show GATAATATATTATATATTGTATATAAGAT	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	318	0.0031	-28	c.137 others(45): Show c.137+3898_137+3925delTAATATATTATATATTGTATATAAGATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124350701	GATAATAT others(21): Show GATAATATATTATATATTGTATATAAGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03491.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0004c0005t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(108): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0080 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0240 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0278 a0001c0001t0005g0246 a0001c0001t0005g0260 a0001c0001t0013g0209 a0001c0001t0015g0194 a0001c0001t0016g0210 a0004c0005t0002g0257	132	318	0.4151	-28	c.137 others(45): Show c.137+4122_137+4149delATATATTATATATTGTATATAAGATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124354742	GCTCTATA others(21): Show GCTCTATAAATAATTGTAATACAAAGTTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	318	0.0031	-28	c.137 others(45): Show c.137+7964_137+7991delCTCTATAAATAATTGTAATACAAAGTTA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3			chrX	TogoVar
SH2D3A_chr19_6747160_6772435	6762056	GGACTAAA others(21): Show GGACTAAATAATAGATGTAGCAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	380	0.0026	-28	c.70- others(43): Show c.70-1097_70-1070delGTGTGTCTGCTACATCTATTATTTAGTC	SH2D3A	ENSG00000125731.13	transcript	ENST00000245908.11	protein_coding	2/9			chr19	TogoVar
SH2D4B_chr10_80532902_80651560	80572945	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0006 a0007c0015t0006	a0007c0015t0006g0206 a0007c0015t0006g0206	1	322	0.0031	-28	c.495 others(45): Show c.495+1382_495+1409delATATATATATATATATATATATATATAT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572960	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0007 a0007c0015t0007	a0007c0015t0007g0205 a0007c0015t0007g0205	1	322	0.0031	-28	c.495 others(45): Show c.495+1384_495+1411delATATATATATATATATATATATATATTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572962	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG02451.hp2 HG00323.hp1 HG01256.hp1 HG02451.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0010 a0002c0007 a0016c0024 a0001c0010 a0002c0007 a0016c0024	a0001c0010t0001 a0002c0007t0001 a0016c0024t0031 a0001c0010t0001 a0002c0007t0001 a0016c0024t0031	a0001c0010t0001g0019 a0002c0007t0001g0016 a0016c0024t0031g0018 a0001c0010t0001g0019 a0002c0007t0001g0016 a0016c0024t0031g0018	3	322	0.0093	-28	c.495 others(45): Show c.495+1386_495+1413delATATATATATATATATATATATATTTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572964	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0016	a0002c0007t0016g0011 a0002c0007t0016g0011	1	322	0.0031	-28	c.495 others(45): Show c.495+1388_495+1415delATATATATATATATATATATATTTTTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH3BP2_chr4_2788085_2846096	2825489	GAGCAACA others(21): Show GAGCAACACGTGGACATGCACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0180	1	378	0.0027	-28	c.428 others(43): Show c.428+331_428+358delTGGACATGCACACACACACAGCAACACG	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP4_chr2_234947017_235060714	235038360	ATATATAA others(21): Show ATATATAATATATATACATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0203 a0001c0003t0004g0203	1	348	0.0029	-28	c.119 others(45): Show c.119-2527_119-2500delTATATAATATATATACATATATATATAT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5			chr2	TogoVar
SH3GL2_chr9_17574066_17802124	17628411	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	260	0.0039	-28	c.45+ others(45): Show c.45+49139_45+49166delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17738537	TATACATA others(21): Show TATACATAAGTGTGTGTGTATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00735.hp1 others(6): Show HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01071.hp2 HG01361.hp2 HG01516.hp1 HG03831.hp2 HG04199.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0018 a0001c0001t0003g0002 a0001c0001t0003g0023 others(6): Show a0001c0001t0002g0018 a0001c0001t0003g0002 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0035 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0151 a0001c0001t0003g0237	9	260	0.0346	-28	c.46- others(43): Show c.46-8525_46-8498delCATAAGTGTGTGTGTATATACATACATA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129004945	CAGGGGAG others(21): Show CAGGGGAGCATGAGGGAAGGAGGGAGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18982.hp2 NA18993.hp2 others(1): Show NA18956.hp2 NA18982.hp2 NA18993.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0002t0002g0041 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0002t0002g0041 a0001c0002t0002g0042	4	436	0.0092	-28	c.37 others(39): Show c.3711_*3738delTCTCTCCCTCCTTCCCTCATGCTCCCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding		2090		chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19760023	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCCCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG02257.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0040 a0001c0001t0001g0048	2	204	0.0098	-28	c.163 others(47): Show c.163-13610_163-13583delAGAGAGAGAGGGAGAGAGAGAGAGAG AG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19774654	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02559.hp2 others(10): Show HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02897.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0002	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 others(10): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0002t0001g0179 a0001c0002t0002g0178 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0202 a0001c0002t0012g0186 a0001c0003t0002g0039	13	204	0.0637	-28	c.163 others(47): Show c.163-28241_163-28214delCTTTCTTTCTTTCTTTCTTTCTTTCT TT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19855610	TTAGCCTC others(21): Show TTAGCCTCTACCTGGCTCAGTGCTACACA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01123.hp1 others(34): Show HG00639.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp2 HG02293.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03579.hp1 HG03831.hp1 NA18957.hp2 NA18979.hp1 NA19005.hp1 NA19030.hp2 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0004c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0004c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0025 others(34): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0137 a0001c0001t0004g0032 a0001c0001t0008g0023 a0001c0001t0010g0004 a0001c0001t0011g0045 a0001c0003t0001g0049 a0001c0003t0001g0051 a0001c0003t0002g0039 a0001c0006t0001g0054 a0004c0008t0001g0030	37	204	0.1814	-28	c.5-1 others(43): Show c.5-19356_5-19329delTGTGTAGCACTGAGCCAGGTAGAGGCTA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19887601	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02559.hp1 HG01255.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0012 a0001c0001t0001 a0001c0002t0012	a0001c0001t0001g0106 a0001c0002t0012g0186 a0001c0001t0001g0106 a0001c0002t0012g0186	2	204	0.0098	-28	c.-31 others(37): Show c.-319_-292delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2		chrX	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348634	CTATGTAT others(21): Show CTATGTATCTATCTATCTATCCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0006 a0001c0001t0030g0006	1	280	0.0036	-28	c.101 others(47): Show c.1013-1330_1013-1303delATAGATAGGATAGATAGATAGATACA TA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439248	AAAGAAAA others(21): Show AAAGAAAAAAAAAAAACAAAAACAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02897.hp1 HG03209.hp2 others(1): Show HG02145.hp1 HG02897.hp1 HG03209.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0013 a0001c0001 a0001c0003 a0005c0013	a0001c0001t0021 a0001c0003t0005 a0001c0003t0031 others(1): Show a0001c0001t0021 a0001c0003t0005 a0001c0003t0031 a0005c0013t0083	a0001c0001t0021g0192 a0001c0003t0005g0017 a0001c0003t0031g0008 others(1): Show a0001c0001t0021g0192 a0001c0003t0005g0017 a0001c0003t0031g0008 a0005c0013t0083g0214	4	280	0.0143	-28	c.75+ others(45): Show c.75+15002_75+15029delGTTTTTGTTTTTGTTTTTTTTTTTTCTT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439265	AAAAACAA others(21): Show AAAAACAAAAACAAAACAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0053 a0002c0010t0053	a0002c0010t0053g0051 a0002c0010t0053g0051	1	280	0.0036	-28	c.75+ others(45): Show c.75+14985_75+15012delGGTTTTTTTTTTGTTTTGTTTTTGTTTT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF2_chr5_145931578_146068292	145986002	CAAATAAA others(21): Show CAAATAAATAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02622.hp1 HG01255.hp2 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0256 a0002c0002t0001g0072 a0002c0002t0001g0256	2	272	0.0074	-28	c.379 others(47): Show c.379-14039_379-14012delAAATAAATAAATAAATAAATAAATAA AT	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146002469	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	272	0.0037	-28	c.649 others(45): Show c.649-1547_649-1520delAGGAAGGAAGGAAGGAAGGAAGGAAGGA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064656	GAGAGAAA others(21): Show GAGAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp2 others(12): Show HG00597.hp1 HG00609.hp1 HG00621.hp2 HG02004.hp1 HG02071.hp1 HG02165.hp1 HG02970.hp1 HG03195.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04199.hp1 NA18971.hp1 NA18981.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0022 a0002c0023 others(2): Show a0002c0002 a0002c0022 a0002c0023 a0003c0003 a0004c0006	a0002c0002t0001 a0002c0022t0005 a0002c0023t0001 others(3): Show a0002c0002t0001 a0002c0022t0005 a0002c0023t0001 a0003c0003t0001 a0003c0003t0006 a0004c0006t0001	a0002c0002t0001g0023 a0002c0002t0001g0137 a0002c0002t0001g0191 others(12): Show a0002c0002t0001g0023 a0002c0002t0001g0137 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0196 a0002c0002t0001g0226 a0002c0022t0005g0075 a0002c0023t0001g0048 a0003c0003t0001g0030 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0235 a0003c0003t0001g0266 a0003c0003t0006g0241 a0004c0006t0001g0085	15	272	0.0552	-28	c.19 others(39): Show c.1956_*1983delAGAGAAAGAGAAAGAAAGAAAGAAAGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1365		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064664	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0041 a0001c0010t0001g0041	1	272	0.0037	-28	c.19 others(39): Show c.1964_*1991delAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1373		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064799	GGAAGGAA others(21): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0003 a0022c0031t0003	a0022c0031t0003g0007 a0022c0031t0003g0007	1	272	0.0037	-28	c.20 others(39): Show c.2099_*2126delGAAGGAAGGAAAGAAAGAAAGAAAGAAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1508		chr5	TogoVar
SH3TC1_chr4_8194290_8246103	8234235	TCACCCAT others(21): Show TCACCCATCCATCCATTCACCTGTTTGTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0327 a0001c0033t0001g0327	1	374	0.0027	-28	c.328 others(45): Show c.3282+734_3282+761delCCATTCACCTGTTTGTCCACCCATCCAT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8234568	TATCCATC others(21): Show TATCCATCCATCCACCCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0149 a0002c0004t0001g0149	1	374	0.0027	-28	c.328 others(45): Show c.3283-854_3283-827delCCACCCATCCATCCATCCATCCATCCAT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHANK1_chr19_50654255_50724802	50707886	CTTTTCTT others(21): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00140.hp2 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0083 a0001c0002t0104 a0001c0002t0083 a0001c0002t0104	a0001c0002t0083g0229 a0001c0002t0104g0307 a0001c0002t0083g0229 a0001c0002t0104g0307	2	316	0.0063	-28	c.107 others(47): Show c.1078-3400_1078-3373delAAAGAAAAGAAAAGAAAAGAAAAGAA AA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707888	TTTCTTTT others(21): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0079 a0001c0003t0079	a0001c0003t0079g0142 a0001c0003t0079g0142	1	316	0.0032	-28	c.107 others(47): Show c.1078-3402_1078-3375delGAAAAGAAAAGAAAAGAAAAGAAAAG AA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHC2_chr19_411589_466033	443162	ATGGATGG others(21): Show ATGGATGGGTGGGTAGATGAGTGCATGGG	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0150 a0001c0003t0002g0150	1	212	0.0047	-28	c.469 others(45): Show c.469-2258_469-2231delCCCATGCACTCATCTACCCACCCATCCA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	443782	ATGGATGG others(21): Show ATGGATGGATGGGTGGGTGGATGAATAGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18999.hp2 NA19066.hp1 others(1): Show HG00544.hp1 NA18999.hp2 NA19066.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0132	4	212	0.0189	-28	c.469 others(45): Show c.469-2878_469-2851delCCTATTCATCCACCCACCCATCCATCCA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02523.hp2 HG02080.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0149 a0001c0001t0001g0107 a0001c0001t0001g0149	2	302	0.0066	-28	c.118 others(47): Show c.1182+4918_1182+4945delTCTTTCTTTCTTTCTTTCTTTCTTTC TT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01168.hp2 others(22): Show HG00621.hp1 HG01109.hp1 HG01168.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG02135.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02895.hp2 HG03453.hp1 NA18980.hp1 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA19000.hp1 NA19030.hp1 NA19043.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0007 a0001c0001 a0004c0004 a0006c0007	a0001c0001t0001 a0004c0004t0001 a0006c0007t0001 a0001c0001t0001 a0004c0004t0001 a0006c0007t0001	a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0158 others(22): Show a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0158 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0254 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0293 a0004c0004t0001g0110 a0004c0004t0001g0120 a0004c0004t0001g0142 a0006c0007t0001g0298 a0006c0007t0001g0299	25	302	0.0828	-28	c.118 others(47): Show c.1182+2569_1182+2596delTATATATATATATATATATATATATA TA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930547	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	302	0.0033	-28	c.107 others(45): Show c.1077-823_1077-796delTATATATATATATATATATATATACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952179	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01257.hp2 others(2): Show HG00735.hp2 HG00738.hp1 HG01257.hp2 HG01928.hp2 HG02027.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0004 a0005c0005t0001g0046 a0005c0005t0001g0047 others(2): Show a0002c0002t0001g0004 a0005c0005t0001g0046 a0005c0005t0001g0047 a0005c0005t0001g0048 a0005c0005t0001g0049	5	302	0.0166	-28	c.405 others(43): Show c.405+522_405+549delATATATATATATATATTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952181	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01106.hp2 HG02015.hp1 others(20): Show HG00597.hp2 HG01106.hp2 HG02015.hp1 HG02132.hp1 HG02155.hp2 HG03017.hp2 NA18612.hp1 NA18940.hp2 NA18944.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18992.hp2 NA19057.hp1 NA19086.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0014 a0002c0002 a0011c0014	a0002c0002t0001 a0011c0014t0001 a0002c0002t0001 a0011c0014t0001	a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 others(20): Show a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0011c0014t0001g0302	23	302	0.0762	-28	c.405 others(43): Show c.405+520_405+547delATATATATATATATATATTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952183	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	302	0.0033	-28	c.405 others(43): Show c.405+518_405+545delATATATATATATATATATATTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHD_chr19_4274266_4295722	4286226	CTTTCTTT others(21): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG01168.hp1 others(8): Show HG00099.hp1 HG00408.hp1 HG01168.hp1 HG02071.hp2 HG02165.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 NA18966.hp2 NA18970.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0005t0001	a0001c0001t0001g0184 a0001c0001t0002g0101 a0001c0001t0002g0102 others(8): Show a0001c0001t0001g0184 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0171 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0011g0174 a0001c0005t0001g0257 a0001c0005t0001g0268 a0001c0005t0001g0271	11	462	0.0238	-28	c.716 others(45): Show c.716+1323_716+1350delTTTCTTTTCTTTCTTTCTTTCTTTCTTT	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	4/5			chr19	TogoVar
SHISA9_chr16_12896598_13245416	12943312	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	214	0.0047	-28	c.691 others(47): Show c.691+26499_691+26526delTGTGTGTGTGTGTGTGTGAGAGAGAG AG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943318	TGTGTGTG others(21): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	214	0.0047	-28	c.691 others(47): Show c.691+26505_691+26532delTGTGTGTGTGTGAGAGAGAGAGAGAG AG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019862	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0183 a0001c0002t0060g0183	1	214	0.0047	-28	c.691 others(49): Show c.691+103049_691+103076delCTCCCTCCCTCCCTCCCTCCCTTC TTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019870	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0162 a0001c0001t0022g0162	1	214	0.0047	-28	c.691 others(49): Show c.691+103057_691+103084delCTCCCTCCCTCCCTTCTTTCTTTC TTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019880	CTCCCTTC others(21): Show CTCCCTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	214	0.0047	-28	c.691 others(49): Show c.691+103067_691+103094delCCCTTCTTTCTTTCTTTCTTTCTT TCTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019882	CCCTTCTT others(21): Show CCCTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0038 a0001c0001t0024g0038	1	214	0.0047	-28	c.691 others(49): Show c.691+103069_691+103096delCTTCTTTCTTTCTTTCTTTCTTTC TTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019936	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0078 a0001c0001t0012g0078	1	214	0.0047	-28	c.691 others(49): Show c.691+103129_691+103156delTTTCTTTCTTTCTTTCCCTCCTTC TTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019944	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCCCTCCTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19063.hp1 HG02165.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0043 a0001c0001t0011 a0001c0001t0043	a0001c0001t0011g0123 a0001c0001t0043g0030 a0001c0001t0011g0123 a0001c0001t0043g0030	2	214	0.0094	-28	c.691 others(49): Show c.691+103133_691+103160delTTTCTTTCTTTCCCTCCTTCTTTC CTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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