Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASB4_chr7_95480943_95545233	95515167	C C	CTCTCTTT others(7): Show CTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	388	0.0026	14	c.488 others(33): Show c.488-12643_488-12642insCTTTCTTTCTTTCT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515219	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0258 a0001c0001t0007g0258	1	388	0.0026	14	c.488 others(33): Show c.488-12581_488-12580insCTCTTTCTTTCTTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515235	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	388	0.0026	14	c.488 others(33): Show c.488-12576_488-12563dupTTCTTTCTTTCTTT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176219575	G G	GATATATA others(7): Show GATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18966.hp2 NA19089.hp2 others(1): Show HG03139.hp1 NA18966.hp2 NA19089.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0014g0111	4	410	0.0098	14	c.670 others(31): Show c.670+1579_670+1580insATATATTTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219575	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19055.hp2 HG00621.hp1 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0324 a0001c0002t0002g0370 a0001c0002t0002g0324 a0001c0002t0002g0370	2	410	0.0049	14	c.670 others(31): Show c.670+1566_670+1579dupATATATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219577	T T	TATATAAA others(7): Show TATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	410	0.0024	14	c.670 others(31): Show c.670+1577_670+1578insTTATATATTTATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB7_chr15_100597589_100656701	100600551	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02976.hp2 HG03195.hp1 HG02486.hp1 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0150 a0001c0001t0002g0174 a0001c0001t0002g0007 a0001c0001t0002g0150 a0001c0001t0002g0174	3	368	0.0082	14	c.-27 others(25): Show c.-2768_-2767insAAAAAAAAAAAAAA	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding		2037		chr15	TogoVar
ASB7_chr15_100597589_100656701	100622200	C C	CAAAAAGA others(7): Show CAAAAAGAAAAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(255): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0003t0002 a0001c0004t0008 a0001c0007t0004	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(226): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0197 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0258 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0316 a0001c0001t0003g0015 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0087 a0001c0001t0003g0104 a0001c0001t0003g0120 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0268 a0001c0001t0004g0006 a0001c0001t0004g0020 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0094 a0001c0001t0004g0106 a0001c0001t0004g0123 a0001c0001t0004g0153 a0001c0001t0004g0167 a0001c0001t0004g0283 a0001c0001t0006g0055 a0001c0001t0006g0058 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0068 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0069 a0001c0001t0007g0077 a0001c0001t0007g0134 a0001c0001t0009g0031 a0001c0001t0009g0091 a0001c0001t0009g0284 a0001c0001t0010g0021 a0001c0001t0010g0156 a0001c0001t0010g0157 a0001c0001t0011g0145 a0001c0001t0011g0171 a0001c0001t0012g0186 a0001c0001t0013g0093 a0001c0001t0014g0208 a0001c0001t0014g0209 a0001c0001t0015g0054 a0001c0001t0016g0056 a0001c0001t0019g0219 a0001c0001t0020g0292 a0001c0001t0023g0204 a0001c0001t0024g0129 a0001c0001t0025g0158 a0001c0002t0002g0013 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0004g0013 a0001c0002t0008g0037 a0001c0003t0002g0053 a0001c0003t0002g0155 a0001c0004t0008g0022 a0001c0004t0008g0172 a0001c0007t0004g0259	258	368	0.7011	14	c.212 others(31): Show c.212-7231_212-7218dupGAAAAAAGAAAAAA	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASB9_chrX_15238987_15275083	15270081	T T	TACACACA others(7): Show TACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02897.hp1 NA19030.hp1 HG02897.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0266 a0001c0001t0014g0267 a0001c0001t0014g0266 a0001c0001t0014g0267	2	336	0.0060	14	c.-22 others(23): Show c.-221_-208dupGTGTGTGTGTGTGT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/7	208		chrX	TogoVar
ASCC1_chr10_72091032_72221276	72131439	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03017.hp1 HG02630.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0192 a0002c0002t0001g0169 a0002c0002t0001g0192	2	216	0.0093	14	c.871 others(31): Show c.871+1604_871+1617dupGTGTGTGTGTGTGT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	8/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72131439	T T	TACACATA others(7): Show TACACATACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0197 a0008c0007t0001g0197	1	216	0.0046	14	c.871 others(31): Show c.871+1617_871+1618insGTGTGTGTATGTGT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	8/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72141080	G G	GATAGATA others(7): Show GATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	216	0.0046	14	c.747 others(31): Show c.747-7900_747-7899insATCTATCTATCTAT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	7/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218145	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 NA19085.hp1 HG02965.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0182 a0002c0002t0006g0170 a0002c0002t0001g0182 a0002c0002t0006g0170	2	216	0.0093	14	c.-19 others(25): Show c.-1986_-1973dupTTTTTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1870		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72220325	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	216	0.0046	14	c.-41 others(25): Show c.-4166_-4153dupTTTTTTTTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		4050		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29827756	C C	CAACACAC others(7): Show CAACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	372	0.0027	14	c.82- others(29): Show c.82-1977_82-1976insTGTGTGTGTGTGTT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	2/19			chr22	TogoVar
ASCC2_chr22_29783611_29843274	29827757	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	372	0.0027	14	c.82- others(29): Show c.82-1991_82-1978dupGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	2/19			chr22	TogoVar
ASCC3_chr6_100503194_100886329	100560748	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18612.hp2 HG03492.hp1 NA18612.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0026 a0001c0006 a0003c0026	a0001c0006t0005 a0003c0026t0001 a0001c0006t0005 a0003c0026t0001	a0001c0006t0005g0161 a0003c0026t0001g0259 a0001c0006t0005g0161 a0003c0026t0001g0259	2	314	0.0064	14	c.555 others(35): Show c.5551-20375_5551-20362dupGTGTGTGTGTGTGT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	36/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02083.hp2 NA18945.hp2 others(2): Show HG00280.hp2 HG02083.hp2 NA18945.hp2 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0162 a0001c0006t0005g0165 a0001c0006t0005g0167 others(2): Show a0001c0006t0005g0162 a0001c0006t0005g0165 a0001c0006t0005g0167 a0001c0006t0005g0168 a0001c0006t0005g0169	5	314	0.0159	14	c.530 others(33): Show c.5303+3987_5303+4000dupTTTTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608660	T T	TATACTTT others(7): Show TATACTTTATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0131 a0003c0005t0002g0131	1	314	0.0032	14	c.478 others(33): Show c.4786-1573_4786-1572insTATATATAAAGTAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608688	T T	TATACTTT others(7): Show TATACTTTATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18951.hp1 NA18962.hp1 others(4): Show HG02818.hp1 NA18951.hp1 NA18962.hp1 NA18998.hp2 NA19002.hp2 NA19084.hp1 NA19085.hp2	a0002 a0019 a0002 a0019	a0002c0003 a0019c0016 a0002c0003 a0019c0016	a0002c0003t0002 a0019c0016t0002 a0002c0003t0002 a0019c0016t0002	a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0015 others(4): Show a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0051 a0019c0016t0002g0160	7	314	0.0223	14	c.478 others(33): Show c.4786-1601_4786-1600insTATATATAAAGTAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608716	T T	TATACTTT others(7): Show TATACTTTATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0005 a0012c0018t0002g0005	1	314	0.0032	14	c.478 others(33): Show c.4786-1629_4786-1628insTATATATAAAGTAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608731	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0156 a0003c0005t0002g0156	1	314	0.0032	14	c.478 others(33): Show c.4786-1657_4786-1644dupTATATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608733	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0078 a0001c0002t0003g0078	1	314	0.0032	14	c.478 others(33): Show c.4786-1646_4786-1645insAAAATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100661323	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(27): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00609.hp2 HG00741.hp2 HG01168.hp2 HG01175.hp1 HG02055.hp2 HG02683.hp1 HG03516.hp2 HG04228.hp2 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18950.hp1 NA18962.hp1 NA18966.hp1 NA18973.hp2 NA18983.hp2 NA18998.hp2 NA19006.hp1 NA19012.hp2 NA19063.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0006 a0002c0003 a0003c0004 others(3): Show a0001c0006 a0002c0003 a0003c0004 a0004c0008 a0005c0007 a0006c0009	a0001c0006t0005 a0002c0003t0002 a0003c0004t0001 others(3): Show a0001c0006t0005 a0002c0003t0002 a0003c0004t0001 a0004c0008t0003 a0005c0007t0001 a0006c0009t0004	a0001c0006t0005g0161 a0001c0006t0005g0163 a0001c0006t0005g0166 others(27): Show a0001c0006t0005g0161 a0001c0006t0005g0163 a0001c0006t0005g0166 a0001c0006t0005g0169 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0012 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0019 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0036 a0002c0003t0002g0041 a0002c0003t0002g0058 a0002c0003t0002g0067 a0002c0003t0002g0159 a0003c0004t0001g0288 a0004c0008t0003g0055 a0004c0008t0003g0057 a0005c0007t0001g0291 a0006c0009t0004g0192	30	314	0.0955	14	c.270 others(31): Show c.2703+469_2703+482dupTGTGTGTGTGTGTG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	16/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100661323	T T	TCGCACAC others(7): Show TCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0046 a0002c0003t0002g0046	1	314	0.0032	14	c.270 others(31): Show c.2703+482_2703+483insTGTGTGTGTGTGCG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	16/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687030	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01515.hp1 others(14): Show HG00140.hp1 HG00741.hp2 HG01515.hp1 HG01517.hp1 HG02132.hp2 HG02451.hp1 HG02523.hp2 HG02683.hp1 HG02922.hp2 HG02965.hp2 HG03225.hp2 HG04204.hp2 NA18950.hp1 NA19054.hp2 NA19077.hp2 NA19084.hp1 NA19085.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0002c0003 a0009c0036 a0001c0002 a0002c0003 a0009c0036	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0002 a0009c0036t0002	a0001c0002t0001g0290 a0001c0002t0002g0091 a0001c0002t0002g0128 others(14): Show a0001c0002t0001g0290 a0001c0002t0002g0091 a0001c0002t0002g0128 a0001c0002t0003g0103 a0001c0002t0003g0125 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0022 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0041 a0002c0003t0002g0045 a0002c0003t0002g0053 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0159 a0009c0036t0002g0049	17	314	0.0541	14	c.215 others(33): Show c.2152-7279_2152-7278insTGTGTGTGTGTGTG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687032	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02004.hp2 HG02074.hp1 others(2): Show HG00738.hp2 HG02004.hp2 HG02074.hp1 HG02148.hp2 NA18944.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0028 a0002c0003t0002g0035 a0002c0003t0002g0043 others(2): Show a0002c0003t0002g0028 a0002c0003t0002g0035 a0002c0003t0002g0043 a0002c0003t0002g0069 a0002c0003t0002g0071	5	314	0.0159	14	c.215 others(33): Show c.2152-7281_2152-7280insTGTGTGTGTGTGTG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100723876	A A	ATATATAT others(7): Show ATATATATTTATAAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0168 a0001c0006t0005g0168	1	314	0.0032	14	c.190 others(33): Show c.1902+1662_1902+1663insATTATAAATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41			chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962372	T T	TTTTCTTT others(7): Show TTTTCTTTCTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00735.hp1 others(19): Show HG00621.hp1 HG00639.hp2 HG00735.hp1 HG01346.hp2 HG01891.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03239.hp1 HG03491.hp1 HG03710.hp1 NA18747.hp2 NA18944.hp2 NA18964.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0002c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0006t0009 a0002c0002t0002 a0002c0005t0009 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0014g0001 others(5): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0014g0001 a0001c0006t0009g0001 a0002c0002t0002g0001 a0002c0005t0009g0001 a0003c0003t0001g0001 a0003c0003t0002g0001	22	354	0.0622	14	c.30 others(25): Show c.3058_*3059insTTTCTTTCTTTTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1860		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962431	C C	CCTTCCTT others(7): Show CCTTCCTTCCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0001 a0005c0004t0002g0001	1	354	0.0028	14	c.31 others(25): Show c.3117_*3118insCTTCCTTCCTTTCT	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1919		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962471	T T	TTTCTTTC others(7): Show TTTCTTTCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01928.hp2 HG01943.hp2 others(3): Show HG01123.hp2 HG01928.hp2 HG01943.hp2 HG02280.hp2 HG02965.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0002 a0002c0002t0002 a0002c0002t0006 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0006 a0004c0007t0002	a0001c0001t0002g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(1): Show a0001c0001t0002g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0004c0007t0002g0001	6	354	0.0170	14	c.31 others(25): Show c.3157_*3158insTTCTTTCTTCTTTC	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding		1959		chr12	TogoVar
ASCL3_chr11_8932578_8948016	8936744	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG03139.hp1 HG03490.hp1 others(2): Show HG01099.hp2 HG03139.hp1 HG03490.hp1 NA18992.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0025	5	440	0.0114	14	c.87 others(23): Show c.871_*872insAAAAAAAAAAAAAA	ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding		833		chr11	TogoVar
ASF1B_chr19_14114512_14141589	14130787	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG01884.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0216 a0001c0002t0002g0217	2	334	0.0060	14	c.110 others(31): Show c.110-4551_110-4550insTATATATATATACA	ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding	1/3			chr19	TogoVar
ASGR1_chr17_7168431_7184370	7176792	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0158 a0001c0003t0004g0158	1	442	0.0023	14	c.355 others(27): Show c.355+24_355+37dupTGTGTGTGTGTGTG	ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	5/8			chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097662	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 NA20752.hp2 HG03834.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0199 a0001c0001t0001g0014 a0001c0001t0001g0199	2	432	0.0046	14	c.39 others(25): Show c.3912_*3913insCACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3663		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097664	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01168.hp2 others(2): Show HG00738.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0003 a0001c0001t0005 a0001c0002t0003	a0001c0001t0005g0267 a0001c0002t0003g0019 a0001c0002t0003g0046 others(1): Show a0001c0001t0005g0267 a0001c0002t0003g0019 a0001c0002t0003g0046 a0001c0002t0003g0287	5	432	0.0116	14	c.39 others(25): Show c.3910_*3911insCACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3661		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7097670	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	432	0.0023	14	c.39 others(25): Show c.3904_*3905insCACACACACACACA	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3655		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155332458	G G	GTATATAT others(7): Show GTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 NA18983.hp2 HG01516.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0155 a0001c0001t0001g0023 a0001c0001t0001g0155	2	182	0.0110	14	c.52 others(25): Show c.5201_*5202insTATATATATATATA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding		2809		chr1	TogoVar
ASH1L_chr1_155330268_155567803	155357078	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	182	0.0055	14	c.705 others(31): Show c.7055+224_7055+237dupGTGTGTGTGTGTGT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	15/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATAAATA others(7): Show AATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19011.hp1 HG02055.hp2 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0136 a0003c0003t0003g0179 a0001c0001t0001g0136 a0003c0003t0003g0179	2	182	0.0110	14	c.600 others(33): Show c.6008+4157_6008+4158insATATATATATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155490614	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0180 a0008c0013t0002g0180	1	182	0.0055	14	c.421 others(31): Show c.421-8179_421-8166dupTGTGTGTGTGTGTG	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27			chr1	TogoVar
ASH2L_chr8_38100529_38145080	38142491	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00544.hp2 others(72): Show HG00099.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02630.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0003c0005t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(67): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0230 a0001c0001t0001g0251 a0001c0001t0009g0009 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0061 a0001c0002t0001g0250 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0003g0281 a0001c0002t0004g0001 a0001c0003t0001g0030 a0001c0003t0001g0127 a0001c0003t0001g0247 a0001c0003t0004g0306 a0001c0004t0001g0063 a0003c0005t0001g0193 a0003c0005t0001g0194	75	330	0.2273	14	c.34 others(25): Show c.3420_*3421insTGTGTGTGTGTGTG	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding		2412		chr8	TogoVar
ASIC3_chr7_151043531_151057754	151048541	G G	GCGCCGGC others(7): Show GCGCCGGCTCAGCAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	418	0.0024	14	c.-32 others(23): Show c.-327_-314dupCGGCTCAGCACCGC	ASIC3	ENSG00000213199.8	transcript	ENST00000349064.10	protein_coding	1/11	313	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASIP_chr20_34236423_34274344	34258674	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG01081.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0139 a0001c0001t0001g0077 a0001c0001t0001g0139	2	306	0.0065	14	c.-10 others(31): Show c.-10-1687_-10-1674dupTATATATATATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258685	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG03139.hp2 others(1): Show HG02572.hp1 HG02818.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0038 a0001c0001t0002g0008 a0001c0001t0002g0038	4	306	0.0131	14	c.-10 others(31): Show c.-10-1674_-10-1673insTATATATGTATATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258690	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19043.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0054 a0001c0001t0002g0062	2	306	0.0065	14	c.-10 others(31): Show c.-10-1674_-10-1673insTATATATATATACA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34269946	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	306	0.0033	14	c.77 others(23): Show c.779_*780insAAAAAAAAAAAAAA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding		603		chr20	TogoVar
ASMTL_chrX_1398139_1457909	1435548	T T	TAGCTCAG others(7): Show TAGCTCAGACAGCAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01975.hp2 HG02109.hp2 others(11): Show HG00741.hp1 HG01975.hp2 HG02109.hp2 HG02257.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03540.hp1 NA18522.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0042 a0002c0003 a0003c0005 others(2): Show a0001c0042 a0002c0003 a0003c0005 a0005c0038 a0010c0041	a0001c0042t0001 a0002c0003t0001 a0003c0005t0001 others(2): Show a0001c0042t0001 a0002c0003t0001 a0003c0005t0001 a0005c0038t0001 a0010c0041t0001	a0001c0042t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0009 others(11): Show a0001c0042t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0042 a0002c0003t0001g0073 a0002c0003t0001g0112 a0002c0003t0001g0176 a0003c0005t0001g0010 a0005c0038t0001g0113 a0010c0041t0001g0161	14	185	0.0757	14	c.338 others(29): Show c.338+132_338+145dupGTGCTGTCTGAGCT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	4/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1622005	T T	TTATTTTG others(7): Show TTATTTTGTTTTGGG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0060 a0014c0018t0001g0060	1	223	0.0045	14	c.70- others(29): Show c.70-1133_70-1132insATTTTGTTTTGGGT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASNS_chr7_97846677_97877408	97868519	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	436	0.0023	14	c.249 others(29): Show c.249+375_249+388dupCACACACACACACA	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/12			chr7	TogoVar

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