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
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG01884.hp1 others(13): Show HG00423.hp1 HG00738.hp1 HG01884.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG03130.hp1 HG06807.hp2 NA18973.hp1 NA18991.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 others(13): Show a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0002t0001g0331	16	374	0.0428	9	c.108 others(28): Show c.1081-1081_1081-1073dupTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX30_chr3_47798138_47855193	47829315	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG01516.hp2 others(2): Show HG00639.hp2 HG01346.hp1 HG01516.hp2 HG02698.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0119	5	266	0.0188	9	c.366 others(24): Show c.366+181_366+182insATATATATA	DHX30	ENSG00000132153.15	transcript	ENST00000445061.6	protein_coding	6/21			chr3	TogoVar
DHX35_chr20_38957344_39044721	39020656	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00597.hp2 others(75): Show HG00099.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp2 HG01074.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02622.hp2 HG02698.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp2 NA19062.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA20300.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0011	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0005c0011 a0009c0012 a0011c0016	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0005 a0002c0007t0001 a0005c0011t0002 a0009c0012t0001 a0011c0016t0001	a0001c0001t0001g0010 a0001c0003t0002g0019 a0001c0003t0002g0038 others(68): Show a0001c0001t0001g0010 a0001c0003t0002g0019 a0001c0003t0002g0038 a0001c0003t0002g0039 a0001c0003t0002g0046 a0001c0003t0002g0067 a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0005g0252 a0002c0007t0001g0018 a0002c0007t0001g0063 a0002c0007t0001g0064 a0005c0011t0002g0061 a0009c0012t0001g0246 a0011c0016t0001g0242	78	290	0.2690	9	c.149 others(28): Show c.1499-1173_1499-1165dupTTTTTTTTT	DHX35	ENSG00000101452.15	transcript	ENST00000252011.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
DHX37_chr12_124941826_124994131	124991694	T T	TTTATTAT others(2): Show TTTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00609.hp2 others(31): Show HG00423.hp1 HG00597.hp2 HG00609.hp2 HG01884.hp2 HG02071.hp1 HG02080.hp1 HG02257.hp1 HG02258.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp1 HG03540.hp2 NA18612.hp2 NA18747.hp2 NA18949.hp2 NA18957.hp2 NA18966.hp1 NA18979.hp1 NA18992.hp1 NA18997.hp1 NA19009.hp1 NA19055.hp2 NA19067.hp1 NA19083.hp1 NA19090.hp1 NA19240.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0012	a0002c0003 a0002c0004 a0002c0011 others(7): Show a0002c0003 a0002c0004 a0002c0011 a0002c0013 a0003c0007 a0003c0010 a0004c0006 a0004c0008 a0004c0028 a0012c0027	a0002c0003t0001 a0002c0003t0018 a0002c0004t0002 others(12): Show a0002c0003t0001 a0002c0003t0018 a0002c0004t0002 a0002c0004t0012 a0002c0011t0004 a0002c0011t0006 a0002c0013t0003 a0003c0007t0001 a0003c0010t0003 a0004c0006t0001 a0004c0006t0002 a0004c0006t0014 a0004c0008t0003 a0004c0028t0001 a0012c0027t0002	a0002c0003t0001g0305 a0002c0003t0001g0311 a0002c0003t0001g0315 others(30): Show a0002c0003t0001g0305 a0002c0003t0001g0311 a0002c0003t0001g0315 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0327 a0002c0003t0001g0329 a0002c0003t0001g0332 a0002c0003t0018g0336 a0002c0004t0002g0312 a0002c0004t0002g0321 a0002c0004t0002g0330 a0002c0004t0002g0331 a0002c0004t0002g0338 a0002c0004t0012g0313 a0002c0011t0004g0306 a0002c0011t0004g0310 a0002c0011t0004g0326 a0002c0011t0004g0333 a0002c0011t0004g0347 a0002c0011t0006g0345 a0002c0013t0003g0325 a0003c0007t0001g0341 a0003c0010t0003g0342 a0004c0006t0001g0015 a0004c0006t0001g0316 a0004c0006t0002g0317 a0004c0006t0014g0346 a0004c0008t0003g0304 a0004c0008t0003g0307 a0004c0028t0001g0335 a0012c0027t0002g0334 a0012c0027t0002g0344	34	370	0.0919	9	c.-26 others(20): Show c.-2673_-2672insTAATAATAA	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding		2564		chr12	TogoVar
DHX9_chr1_182834347_182892982	182868520	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03130.hp1 HG03540.hp1 others(3): Show HG01123.hp1 HG03130.hp1 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0134 a0001c0001t0001g0182 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0134 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0204	6	276	0.0217	9	c.155 others(28): Show c.1557+1483_1557+1491dupTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIAPH1_chr5_141510021_141624000	141526702	G G	GTTTGTGT others(2): Show GTTTGTGTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02615.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0292 a0002c0005t0005g0293 a0002c0005t0005g0294 others(1): Show a0002c0005t0005g0292 a0002c0005t0005g0293 a0002c0005t0005g0294 a0002c0005t0005g0295	4	336	0.0119	9	c.327 others(26): Show c.3274-242_3274-241insAAACACAAA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	24/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96785475	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01891.hp2 HG01928.hp1 others(8): Show HG00642.hp1 HG01891.hp2 HG01928.hp1 HG02129.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18990.hp1 NA19005.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0022	a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0120 others(8): Show a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0002g0119 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0016g0125 a0001c0001t0022g0112	11	147	0.0748	9	c.447 others(28): Show c.447+27231_447+27239dupTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96806646	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0112 a0001c0001t0022g0112	1	147	0.0068	9	c.447 others(28): Show c.447+48398_447+48406dupAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96836717	A A	ATATTTTT others(2): Show ATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	147	0.0068	9	c.448 others(28): Show c.448-44861_448-44860insATTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96869557	C C	CACTACTA others(2): Show CACTACTACT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01258.hp1 others(7): Show HG01069.hp1 HG01071.hp1 HG01258.hp1 HG01515.hp1 HG02015.hp1 HG02647.hp1 HG02809.hp1 HG03471.hp1 HG03654.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0003t0001	a0001c0001t0001g0114 a0001c0001t0002g0008 a0001c0001t0002g0009 others(7): Show a0001c0001t0001g0114 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0115 a0001c0001t0006g0005 a0001c0001t0012g0143 a0001c0003t0001g0136	10	147	0.0680	9	c.448 others(28): Show c.448-11993_448-11985dupCTACTACTA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96882959	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	147	0.0068	9	c.587 others(26): Show c.587+1257_587+1265dupAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	5/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97011891	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 NA20129.hp1 HG02895.hp1 HG02922.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0023 a0001c0001t0011 a0001c0001t0023	a0001c0001t0011g0001 a0001c0001t0011g0002 a0001c0001t0023g0070 a0001c0001t0011g0001 a0001c0001t0011g0002 a0001c0001t0023g0070	3	147	0.0204	9	c.205 others(30): Show c.2050+46704_2050+46712dupAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97145282	C C	CAGTAGTA others(2): Show CAGTAGTAGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00621.hp1 others(51): Show HG00280.hp1 HG00609.hp1 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG03098.hp1 HG03490.hp1 HG03540.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18983.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19007.hp1 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19070.hp1 NA19079.hp1 NA19088.hp1 NA20129.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0002t0004 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0003c0008t0002	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 others(51): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0090 a0001c0001t0002g0100 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0004g0137 a0001c0001t0005g0106 a0001c0001t0008g0041 a0001c0001t0010g0028 a0001c0001t0010g0094 a0001c0001t0014g0012 a0001c0001t0019g0102 a0001c0001t0023g0070 a0001c0002t0004g0013 a0001c0004t0001g0140 a0001c0005t0001g0061 a0001c0009t0001g0007 a0003c0008t0002g0097	54	147	0.3674	9	c.271 others(28): Show c.2719+3522_2719+3530dupAGTAGTAGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97145322	A A	AGTAGTAG others(2): Show AGTAGTAGTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	147	0.0068	9	c.271 others(28): Show c.2719+3530_2719+3531insAGTAGTGGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97149730	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(38): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00621.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02300.hp1 HG02602.hp1 HG02717.hp1 HG03225.hp1 HG03490.hp1 HG03942.hp1 HG04204.hp1 NA18945.hp1 NA18948.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18983.hp1 NA18989.hp1 NA19004.hp1 NA19007.hp1 NA19058.hp1 NA19070.hp1 NA19079.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0005t0001 a0003c0008t0002	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 others(38): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0002g0100 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0008g0041 a0001c0001t0010g0094 a0001c0001t0014g0012 a0001c0001t0019g0102 a0001c0002t0001g0015 a0001c0005t0001g0061 a0003c0008t0002g0097	41	147	0.2789	9	c.271 others(28): Show c.2719+7948_2719+7956dupAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97187281	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01071.hp1 others(33): Show HG00280.hp1 HG00621.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01255.hp1 HG01358.hp1 HG02015.hp1 HG02074.hp1 HG02083.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03017.hp1 HG03490.hp1 HG03579.hp1 HG04115.hp1 NA18747.hp1 NA18944.hp1 NA18959.hp1 NA18960.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA19000.hp1 NA19004.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 others(33): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0134 a0001c0001t0008g0021 a0001c0001t0008g0041 a0001c0001t0009g0099 a0001c0001t0013g0141 a0001c0001t0014g0012 a0001c0001t0015g0144 a0001c0001t0016g0125 a0001c0001t0019g0102 a0001c0005t0001g0061	36	147	0.2449	9	c.271 others(30): Show c.2719+45502_2719+45510dupTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97193009	T T	TTTTCTTT others(2): Show TTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0076 a0001c0002t0021g0076	1	147	0.0068	9	c.271 others(30): Show c.2719+51217_2719+51218insTCTTTTCTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97253293	A A	AAAATAAA others(2): Show AAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0086 a0001c0001t0017g0086	1	147	0.0068	9	c.284 others(28): Show c.2844+5457_2844+5458insTAAAATAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03098.hp1 NA19060.hp1 HG01071.hp2 HG03098.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0030 a0001c0001t0002g0117 a0001c0001t0004g0137 a0001c0001t0002g0030 a0001c0001t0002g0117 a0001c0001t0004g0137	3	147	0.0204	9	c.284 others(30): Show c.2845-47159_2845-47151dupAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97312827	A A	ACACATCT others(2): Show ACACATCTAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	147	0.0068	9	c.284 others(30): Show c.2845-35289_2845-35288insCACATCTAG	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97334987	C C	CAAAAACA others(2): Show CAAAAACAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG01081.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0139 a0001c0001t0018g0083 a0001c0001t0002g0139 a0001c0001t0018g0083	2	147	0.0136	9	c.284 others(30): Show c.2845-13127_2845-13119dupAAAACAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97334998	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01943.hp1 HG02040.hp1 others(3): Show HG01192.hp1 HG01943.hp1 HG02040.hp1 NA18747.hp1 NA18962.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0121 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0134 a0001c0001t0009g0036	6	147	0.0408	9	c.284 others(30): Show c.2845-13108_2845-13100dupAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97570123	T T	TATTAGAA others(2): Show TATTAGAAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03540.hp2 NA19060.hp1 HG01081.hp1 HG03540.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0032 a0001c0001t0002g0117 a0001c0001t0012g0003 a0001c0001t0002g0032 a0001c0001t0002g0117 a0001c0001t0012g0003	3	147	0.0204	9	c.324 others(30): Show c.3242-29130_3242-29129insATTAGAAGA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26			chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59742723	A A	AAAAGAAA others(2): Show AAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(102): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA19010.hp2 NA19043.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0002 a0001c0006 others(9): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0013 a0001c0014 a0002c0003 a0002c0004 a0002c0009 a0003c0008 a0007c0015 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0009 a0001c0006t0002 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0009t0001 a0003c0008t0001 a0007c0015t0001 a0008c0016t0005	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(102): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0006g0207 a0001c0001t0008g0002 a0001c0001t0009g0092 a0001c0001t0010g0024 a0001c0001t0011g0116 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0146 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0009g0170 a0001c0006t0002g0066 a0001c0006t0002g0153 a0001c0010t0003g0007 a0001c0013t0001g0204 a0001c0014t0001g0144 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0044 a0002c0003t0002g0046 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0056 a0002c0003t0002g0156 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0004t0001g0036 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0051 a0002c0004t0001g0057 a0002c0004t0002g0045 a0002c0009t0001g0043 a0003c0008t0001g0194 a0003c0008t0001g0195 a0007c0015t0001g0206 a0008c0016t0005g0055	105	208	0.5048	9	c.331 others(30): Show c.3319+31465_3319+31466insCCTTTCTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59993702	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00639.hp1 others(50): Show HG00280.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01255.hp2 HG01496.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp2 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp1 NA18983.hp1 NA18986.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0013 others(4): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0002c0004 a0003c0008 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0009 a0001c0013t0001 a0002c0003t0002 a0002c0004t0002 a0002c0004t0005 a0003c0008t0001 a0004c0007t0006	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 others(50): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0143 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0002g0123 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0164 a0001c0001t0002g0201 a0001c0001t0003g0001 a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0005g0124 a0001c0001t0006g0207 a0001c0001t0007g0198 a0001c0002t0001g0111 a0001c0002t0001g0146 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0202 a0001c0002t0001g0205 a0001c0002t0009g0170 a0001c0013t0001g0204 a0002c0003t0002g0038 a0002c0003t0002g0044 a0002c0004t0002g0045 a0002c0004t0005g0039 a0003c0008t0001g0194 a0004c0007t0006g0174	53	208	0.2548	9	c.101 others(28): Show c.1015-1128_1015-1120dupTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	9/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60105103	A A	AAAAAAAA others(2): Show AAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00738.hp1 others(28): Show HG00099.hp1 HG00639.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02148.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03491.hp2 HG03540.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp2 NA19010.hp2 NA19240.hp1 NA20129.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0004c0007t0002 a0004c0007t0006 a0006c0011t0002	a0001c0001t0001g0126 a0001c0001t0001g0165 a0001c0001t0001g0167 others(28): Show a0001c0001t0001g0126 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0197 a0001c0001t0005g0099 a0001c0001t0007g0131 a0001c0001t0007g0133 a0001c0001t0007g0134 a0001c0001t0007g0198 a0001c0002t0001g0106 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0185 a0004c0007t0002g0050 a0004c0007t0006g0174 a0006c0011t0002g0097	31	208	0.1490	9	c.390 others(26): Show c.390+6906_390+6907insGTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	3/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60125394	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp1 HG02258.hp2 others(8): Show HG02040.hp1 HG02056.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02965.hp1 HG03195.hp2 HG06807.hp2 NA18973.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0010 a0001c0001 a0001c0006 a0001c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0006t0003 a0001c0010t0003	a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0020 others(8): Show a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0011g0116 a0001c0006t0003g0010 a0001c0010t0003g0007	11	208	0.0529	9	c.213 others(26): Show c.213+7554_213+7562dupAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	2/27			chr13	TogoVar
DIO1_chr1_53889187_53916086	53898744	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01081.hp1 others(14): Show HG00544.hp1 HG00597.hp2 HG01081.hp1 HG02027.hp2 HG02071.hp2 HG03471.hp1 HG04228.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA19058.hp2 NA19066.hp1 NA19068.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012	a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0114 others(12): Show a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0002g0123 a0001c0002t0003g0137 a0001c0002t0012g0119	17	452	0.0376	9	c.337 others(26): Show c.337+4208_337+4216dupAAAAAAAAA	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2A_chr21_46453891_46575015	46461271	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG01361.hp2 others(4): Show HG01106.hp1 HG01261.hp2 HG01361.hp2 HG01981.hp2 HG02523.hp1 HG03688.hp2 NA18994.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0017 others(1): Show a0001c0001 a0001c0007 a0003c0017 a0003c0025	a0001c0001t0002 a0001c0007t0005 a0003c0017t0001 others(1): Show a0001c0001t0002 a0001c0007t0005 a0003c0017t0001 a0003c0025t0001	a0001c0001t0002g0127 a0001c0007t0005g0128 a0001c0007t0005g0132 others(4): Show a0001c0001t0002g0127 a0001c0007t0005g0128 a0001c0007t0005g0132 a0001c0007t0005g0133 a0003c0017t0001g0130 a0003c0017t0001g0131 a0003c0025t0001g0129	7	374	0.0187	9	c.91+ others(24): Show c.91+2063_91+2071dupAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495235	T T	TCTCTCTC others(2): Show TCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19055.hp1 NA19063.hp1 others(1): Show HG02155.hp2 NA19055.hp1 NA19063.hp1 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0124 a0001c0003t0003g0352 a0001c0003t0003g0363 others(1): Show a0001c0003t0003g0124 a0001c0003t0003g0352 a0001c0003t0003g0363 a0001c0003t0003g0371	4	374	0.0107	9	c.284 others(26): Show c.284-1753_284-1752insCTCTCTCTC	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495239	C C	CTTCTCTT others(2): Show CTTCTCTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 NA19012.hp2 others(3): Show HG01884.hp1 HG03516.hp2 NA19012.hp2 NA19058.hp1 NA19062.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0007 a0001c0004t0001 a0001c0002t0001 a0001c0002t0007 a0001c0004t0001	a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0097 others(3): Show a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0097 a0001c0002t0007g0119 a0001c0004t0001g0092 a0001c0004t0001g0118	6	374	0.0160	9	c.284 others(26): Show c.284-1745_284-1744insCTTCTTTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46564544	A A	AGTCCCGA others(2): Show AGTCCCGAAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG01192.hp1 others(37): Show HG01071.hp2 HG01106.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01891.hp1 HG02055.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(4): Show a0001c0001 a0001c0005 a0001c0006 a0001c0023 a0001c0027 a0002c0011 a0002c0038	a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 others(9): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0005t0004 a0001c0005t0008 a0001c0005t0017 a0001c0005t0021 a0001c0006t0004 a0001c0023t0004 a0001c0027t0004 a0002c0011t0004 a0002c0038t0022	a0001c0001t0004g0032 a0001c0001t0004g0053 a0001c0001t0004g0213 others(37): Show a0001c0001t0004g0032 a0001c0001t0004g0053 a0001c0001t0004g0213 a0001c0001t0011g0365 a0001c0001t0011g0366 a0001c0001t0011g0368 a0001c0001t0011g0369 a0001c0001t0013g0136 a0001c0001t0013g0137 a0001c0001t0013g0138 a0001c0001t0013g0147 a0001c0005t0004g0275 a0001c0005t0004g0276 a0001c0005t0004g0277 a0001c0005t0004g0278 a0001c0005t0004g0280 a0001c0005t0004g0283 a0001c0005t0004g0284 a0001c0005t0004g0287 a0001c0005t0008g0002 a0001c0005t0008g0005 a0001c0005t0008g0006 a0001c0005t0008g0007 a0001c0005t0008g0009 a0001c0005t0008g0011 a0001c0005t0008g0012 a0001c0005t0008g0013 a0001c0005t0017g0008 a0001c0005t0017g0010 a0001c0005t0021g0285 a0001c0005t0021g0286 a0001c0006t0004g0125 a0001c0006t0004g0145 a0001c0006t0004g0170 a0001c0023t0004g0168 a0001c0023t0004g0169 a0001c0027t0004g0067 a0001c0027t0004g0274 a0002c0011t0004g0030 a0002c0038t0022g0185	40	374	0.1070	9	c.416 others(26): Show c.4164+615_4164+623dupCCCGAATGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50511291	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(57): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01261.hp1 HG01358.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp1 NA18980.hp1 NA18998.hp1 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0019	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0037 a0001c0001t0044 a0001c0002t0004 a0001c0002t0018 a0001c0003t0002 a0001c0003t0034 a0001c0006t0009 a0001c0011t0002 a0001c0011t0032 a0001c0019t0038	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 others(57): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0007g0011 a0001c0001t0008g0181 a0001c0001t0008g0182 a0001c0001t0014g0172 a0001c0001t0037g0269 a0001c0001t0044g0270 a0001c0002t0004g0010 a0001c0002t0004g0191 a0001c0002t0018g0262 a0001c0003t0002g0012 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0002g0019 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0026 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0036 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0047 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0034g0048 a0001c0006t0009g0192 a0001c0006t0009g0193 a0001c0006t0009g0194 a0001c0006t0009g0195 a0001c0011t0002g0038 a0001c0011t0032g0037 a0001c0019t0038g0190	60	284	0.2113	9	c.100 others(26): Show c.100+6064_100+6072dupTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50742394	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02129.hp1 HG02145.hp2 others(4): Show HG01515.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG03654.hp1 NA18950.hp2 NA19002.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0017 a0001c0001 a0001c0002 a0006c0017	a0001c0001t0001 a0001c0002t0039 a0006c0017t0001 a0001c0001t0001 a0001c0002t0039 a0006c0017t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 others(4): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0002t0039g0092 a0006c0017t0001g0138	7	284	0.0247	9	c.447 others(26): Show c.4478+875_4478+883dupAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	37/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	548911	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03453.hp2 NA18906.hp2 others(1): Show HG01081.hp2 HG03453.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0002t0001 a0001c0007t0002 a0001c0001t0002 a0001c0002t0001 a0001c0007t0002	a0001c0001t0002g0004 a0001c0002t0001g0080 a0001c0007t0002g0076 others(1): Show a0001c0001t0002g0004 a0001c0002t0001g0080 a0001c0007t0002g0076 a0001c0007t0002g0077	4	88	0.0455	9	c.86- others(26): Show c.86-62390_86-62382dupTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608180	A A	ACCCCCAC others(2): Show ACCCCCACAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02040.hp1 HG02155.hp2 others(1): Show HG00673.hp2 HG02040.hp1 HG02155.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0002t0003g0029 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0002t0003g0029 a0001c0002t0003g0030	4	88	0.0455	9	c.85+ others(26): Show c.85+81313_85+81314insCTGTGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	692096	A A	ATACATAT others(2): Show ATACATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01258.hp1 HG01952.hp2 others(9): Show HG00597.hp2 HG01258.hp1 HG01952.hp2 HG02004.hp2 HG02155.hp1 HG02165.hp2 HG02717.hp1 HG02809.hp2 HG03453.hp1 HG03579.hp2 NA18747.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0002t0003 a0001c0003t0002 a0001c0005t0002 a0001c0008t0001 a0001c0009t0001 a0001c0019t0006	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0003g0012 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0003g0012 a0001c0001t0004g0015 a0001c0001t0010g0020 a0001c0002t0003g0082 a0001c0003t0002g0021 a0001c0005t0002g0016 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0009t0001g0007 a0001c0019t0006g0014	12	88	0.1364	9	c.-25 others(20): Show c.-2519_-2518insATATATGTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding		2429		chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92851542	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(46): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18962.hp2 NA18970.hp2 NA19005.hp1 NA19012.hp2 NA19088.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0003c0009t0004	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(46): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0008g0129 a0001c0001t0009g0120 a0003c0009t0004g0200	49	200	0.2450	9	c.190 others(24): Show c.190-596_190-588dupTTTTTTTTT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	2/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92869152	C C	CTATTATT others(2): Show CTATTATTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02818.hp1 others(2): Show HG01884.hp2 HG02258.hp2 HG02818.hp1 HG03041.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0007t0002	a0001c0001t0002g0106 a0001c0001t0003g0034 a0001c0002t0002g0080 others(2): Show a0001c0001t0002g0106 a0001c0001t0003g0034 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0007t0002g0068	5	200	0.0250	9	c.189 others(26): Show c.189+7135_189+7143dupATAATAATA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	2/4			chr1	TogoVar
DIRAS3_chr1_68040962_68055627	68048047	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02630.hp1 HG03239.hp1 others(1): Show HG02155.hp2 HG02630.hp1 HG03239.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0134 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0090 a0001c0001t0001g0134 a0001c0001t0001g0190 a0001c0001t0001g0222	4	376	0.0106	9	c.-65 others(24): Show c.-65-686_-65-685insATATATATA	DIRAS3	ENSG00000162595.8	transcript	ENST00000646789.1	protein_coding	1/1			chr1	TogoVar
DIRAS3_chr1_68040962_68055627	68048049	A A	AAATATAT others(2): Show AAATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02293.hp1 HG02896.hp2 others(3): Show HG02155.hp1 HG02293.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0066 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0066	6	376	0.0160	9	c.-65 others(24): Show c.-65-688_-65-687insATATATATT	DIRAS3	ENSG00000162595.8	transcript	ENST00000646789.1	protein_coding	1/1			chr1	TogoVar
DIRAS3_chr1_68040962_68055627	68048049	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp2 NA18985.hp2 others(2): Show HG02886.hp1 HG03225.hp2 NA18985.hp2 NA18987.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0121 others(2): Show a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0173 a0001c0001t0001g0195	5	376	0.0133	9	c.-65 others(24): Show c.-65-688_-65-687insATATATATA	DIRAS3	ENSG00000162595.8	transcript	ENST00000646789.1	protein_coding	1/1			chr1	TogoVar
DIS3L2_chr2_231956713_232342192	232133987	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp1 others(61): Show HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02896.hp1 HG03471.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG06807.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18992.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0003c0007 a0005c0015	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0014t0001 a0003c0007t0003 a0005c0015t0001	a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0044 others(61): Show a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0300 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0180 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0009t0001g0041 a0001c0014t0001g0025 a0003c0007t0003g0021 a0003c0007t0003g0022 a0003c0007t0003g0023 a0003c0007t0003g0045 a0003c0007t0003g0302 a0005c0015t0001g0026	64	304	0.2105	9	c.703 others(26): Show c.703-2478_703-2470dupAAAAAAAAA	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232303321	A A	ATGGGAAA others(2): Show ATGGGAAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00544.hp2 others(53): Show HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00673.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02293.hp2 HG02523.hp2 HG03209.hp2 HG03704.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18992.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19082.hp1 NA19087.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0009 a0001c0014 others(3): Show a0001c0002 a0001c0009 a0001c0014 a0001c0016 a0001c0018 a0005c0015	a0001c0002t0001 a0001c0009t0001 a0001c0014t0001 others(3): Show a0001c0002t0001 a0001c0009t0001 a0001c0014t0001 a0001c0016t0001 a0001c0018t0001 a0005c0015t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0017 others(53): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0076 a0001c0002t0001g0099 a0001c0002t0001g0118 a0001c0002t0001g0131 a0001c0002t0001g0180 a0001c0002t0001g0199 a0001c0002t0001g0227 a0001c0002t0001g0253 a0001c0002t0001g0275 a0001c0002t0001g0295 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0009t0001g0041 a0001c0014t0001g0025 a0001c0016t0001g0079 a0001c0018t0001g0006 a0005c0015t0001g0026	56	304	0.1842	9	c.173 others(28): Show c.1739+3202_1739+3203insTGGGAAAAT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	14/20			chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333227	G G	GCCTCCTC others(2): Show GCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG01257.hp2 others(6): Show HG00140.hp1 HG00558.hp1 HG01257.hp2 HG01361.hp2 HG02257.hp2 NA18947.hp1 NA18980.hp2 NA18994.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0008 a0001c0001 a0001c0013 a0002c0008	a0001c0001t0001 a0001c0001t0006 a0001c0013t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0013t0002 a0002c0008t0002	a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0001g0110 others(6): Show a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0013t0002g0143 a0002c0008t0002g0193 a0002c0008t0002g0196	9	304	0.0296	9	c.201 others(26): Show c.2011-592_2011-584dupTCCTCCTCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DISP1_chr1_222810039_223010995	222936778	C C	CATATATA others(2): Show CATATATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01168.hp1 others(12): Show HG00741.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01361.hp2 HG02080.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18994.hp2 NA19056.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0005c0013	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0005c0013t0001	a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0002t0001g0073 others(12): Show a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0285 a0001c0006t0001g0075 a0001c0006t0001g0219 a0005c0013t0001g0076	15	348	0.0431	9	c.-17 others(26): Show c.-17-6015_-17-6007dupATAATATAT	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936859	A A	ATAATATA others(2): Show ATAATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02602.hp1 HG04228.hp1 HG02258.hp1 HG02602.hp1 HG04228.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0002c0009 a0004c0010 a0002c0003 a0002c0009 a0004c0010	a0002c0003t0001 a0002c0009t0001 a0004c0010t0001 a0002c0003t0001 a0002c0009t0001 a0004c0010t0001	a0002c0003t0001g0045 a0002c0009t0001g0043 a0004c0010t0001g0176 a0002c0003t0001g0045 a0002c0009t0001g0043 a0004c0010t0001g0176	3	348	0.0086	9	c.-17 others(26): Show c.-17-5948_-17-5947insTAATATATT	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8			chr1	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp2 others(84): Show HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02071.hp2 HG02083.hp2 HG02148.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18946.hp2 NA18950.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18977.hp1 NA18979.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19090.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0018 a0024 a0026 a0027	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0014 a0002c0004 a0002c0009 a0003c0008 a0003c0015 a0003c0044 a0004c0010 a0005c0013 a0008c0017 a0018c0040 a0024c0031 a0026c0029 a0027c0028	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0014t0001 a0002c0004t0001 a0002c0009t0001 a0003c0008t0001 a0003c0015t0001 a0003c0044t0001 a0004c0010t0001 a0005c0013t0001 a0008c0017t0001 a0018c0040t0001 a0024c0031t0001 a0026c0029t0001 a0027c0028t0001	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0091 others(84): Show a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0164 a0001c0002t0001g0210 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0005t0001g0324 a0001c0006t0001g0162 a0001c0014t0001g0042 a0001c0014t0001g0282 a0002c0004t0001g0014 a0002c0009t0001g0033 a0002c0009t0001g0239 a0003c0008t0001g0057 a0003c0008t0001g0078 a0003c0008t0001g0079 a0003c0008t0001g0216 a0003c0008t0001g0264 a0003c0008t0001g0265 a0003c0008t0001g0266 a0003c0008t0001g0268 a0003c0008t0001g0283 a0003c0015t0001g0165 a0003c0015t0001g0167 a0003c0015t0001g0168 a0003c0044t0001g0217 a0004c0010t0001g0273 a0005c0013t0001g0008 a0008c0017t0001g0183 a0008c0017t0001g0184 a0018c0040t0001g0100 a0024c0031t0001g0062 a0026c0029t0001g0044 a0027c0028t0001g0152	87	348	0.2500	9	c.510 others(28): Show c.510-13701_510-13693dupAAAAAAAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222984417	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01257.hp1 HG01258.hp2 others(5): Show HG00642.hp1 HG01257.hp1 HG01258.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp2 HG02148.hp1 HG02602.hp1	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0002c0003 a0002c0009 others(1): Show a0001c0001 a0002c0003 a0002c0009 a0023c0033	a0001c0001t0001 a0002c0003t0001 a0002c0009t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0009t0001 a0023c0033t0001	a0001c0001t0001g0161 a0002c0003t0001g0045 a0002c0003t0001g0302 others(5): Show a0001c0001t0001g0161 a0002c0003t0001g0045 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0326 a0002c0009t0001g0335 a0002c0009t0001g0336 a0023c0033t0001g0036	8	348	0.0230	9	c.539 others(26): Show c.539+1308_539+1309insTATATATAT	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	4/8			chr1	TogoVar
DISP3_chr1_11474155_11542551	11522880	G G	GGACCCAG others(2): Show GGACCCAGCA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18949.hp1 NA19004.hp1 NA18943.hp1 NA18949.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0126 a0002c0002t0002g0157 a0002c0002t0002g0122 a0002c0002t0002g0126 a0002c0002t0002g0157	3	358	0.0084	9	c.236 others(28): Show c.2363-1062_2363-1061insGACCCAGCA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar

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