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
DOCK8_chr9_209865_470255	400415	C C	CCTCCACC others(8): Show CCTCCACCACCACCAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0133 a0003c0133	a0003c0133t0001 a0003c0133t0001	a0003c0133t0001g0142 a0003c0133t0001g0142	1	256	0.0039	15	c.323 others(34): Show c.3234+1157_3234+1158insTCCACCACCACCAGC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400430	C C	CCACCACC others(8): Show CCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0061 a0061	a0061c0166 a0061c0166	a0061c0166t0018 a0061c0166t0018	a0061c0166t0018g0001 a0061c0166t0018g0001	1	256	0.0039	15	c.323 others(34): Show c.3234+1185_3234+1186insTCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400506	T T	TCACCACC others(8): Show TCACCACCACCTCCAC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19043.hp1 NA18987.hp1 NA19043.hp1	a0003 a0057 a0003 a0057	a0003c0004 a0057c0130 a0003c0004 a0057c0130	a0003c0004t0001 a0057c0130t0001 a0003c0004t0001 a0057c0130t0001	a0003c0004t0001g0159 a0057c0130t0001g0169 a0003c0004t0001g0159 a0057c0130t0001g0169	2	256	0.0078	15	c.323 others(34): Show c.3234+1257_3234+1258insTCCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400563	T T	TCACCACC others(8): Show TCACCACCACCTCCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0115 a0002c0115	a0002c0115t0001 a0002c0115t0001	a0002c0115t0001g0037 a0002c0115t0001g0037	1	256	0.0039	15	c.323 others(34): Show c.3234+1314_3234+1315insTCCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400566	C C	CCACCACC others(8): Show CCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp1 HG01109.hp1 others(31): Show HG00609.hp1 HG01069.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01496.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG03471.hp1 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18943.hp2 NA18945.hp1 NA18961.hp2 NA19007.hp2 NA19060.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0007 a0009 a0010 a0011 a0014 a0028 a0029 a0033 a0037 a0038 a0050	a0001c0002 a0001c0003 a0001c0032 others(24): Show a0001c0002 a0001c0003 a0001c0032 a0001c0049 a0001c0066 a0002c0005 a0002c0008 a0002c0021 a0002c0077 a0002c0112 a0003c0001 a0003c0004 a0003c0134 a0003c0135 a0005c0145 a0007c0078 a0009c0060 a0010c0091 a0011c0156 a0011c0161 a0014c0065 a0028c0116 a0029c0082 a0033c0088 a0037c0029 a0038c0068 a0050c0149	a0001c0002t0001 a0001c0003t0001 a0001c0032t0006 others(25): Show a0001c0002t0001 a0001c0003t0001 a0001c0032t0006 a0001c0049t0013 a0001c0066t0014 a0002c0005t0001 a0002c0008t0001 a0002c0021t0005 a0002c0077t0003 a0002c0112t0001 a0003c0001t0001 a0003c0001t0016 a0003c0004t0001 a0003c0134t0001 a0003c0135t0001 a0005c0145t0001 a0007c0078t0001 a0009c0060t0003 a0010c0091t0001 a0011c0156t0001 a0011c0161t0002 a0014c0065t0001 a0028c0116t0002 a0029c0082t0001 a0033c0088t0003 a0037c0029t0001 a0038c0068t0003 a0050c0149t0010	a0001c0002t0001g0090 a0001c0002t0001g0115 a0001c0002t0001g0253 others(31): Show a0001c0002t0001g0090 a0001c0002t0001g0115 a0001c0002t0001g0253 a0001c0003t0001g0044 a0001c0032t0006g0127 a0001c0049t0013g0219 a0001c0066t0014g0084 a0002c0005t0001g0191 a0002c0005t0001g0196 a0002c0008t0001g0112 a0002c0008t0001g0113 a0002c0008t0001g0114 a0002c0021t0005g0250 a0002c0077t0003g0018 a0002c0112t0001g0224 a0003c0001t0001g0135 a0003c0001t0001g0158 a0003c0001t0016g0157 a0003c0004t0001g0161 a0003c0134t0001g0217 a0003c0135t0001g0173 a0005c0145t0001g0172 a0007c0078t0001g0035 a0009c0060t0003g0241 a0010c0091t0001g0076 a0011c0156t0001g0052 a0011c0161t0002g0234 a0014c0065t0001g0165 a0028c0116t0002g0233 a0029c0082t0001g0228 a0033c0088t0003g0003 a0037c0029t0001g0047 a0038c0068t0003g0077 a0050c0149t0010g0071	34	256	0.1328	15	c.323 others(34): Show c.3234+1314_3234+1315insTCCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400602	T T	TCACCACC others(8): Show TCACCACCACCTCCAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0078 a0007c0009t0001g0078	1	256	0.0039	15	c.323 others(34): Show c.3234+1353_3234+1354insTCCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400620	C C	CCACCACC others(8): Show CCACCACCAGCATCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03017.hp2 NA18964.hp2 others(3): Show HG02071.hp1 HG03017.hp2 NA18964.hp2 NA18987.hp2 NA19090.hp1 NA19091.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0010	a0001c0002 a0001c0059 a0001c0072 others(3): Show a0001c0002 a0001c0059 a0001c0072 a0003c0001 a0005c0160 a0010c0103	a0001c0002t0001 a0001c0059t0001 a0001c0072t0004 others(3): Show a0001c0002t0001 a0001c0059t0001 a0001c0072t0004 a0003c0001t0001 a0005c0160t0005 a0010c0103t0003	a0001c0002t0001g0041 a0001c0059t0001g0100 a0001c0072t0004g0239 others(3): Show a0001c0002t0001g0041 a0001c0059t0001g0100 a0001c0072t0004g0239 a0003c0001t0001g0048 a0005c0160t0005g0129 a0010c0103t0003g0230	6	256	0.0234	15	c.323 others(34): Show c.3234+1366_3234+1367insCCAGCATCTTCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400660	C C	CACCACCT others(8): Show CACCACCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0032 a0032	a0032c0089 a0032c0089	a0032c0089t0001 a0032c0089t0001	a0032c0089t0001g0120 a0032c0089t0001g0120	1	256	0.0039	15	c.323 others(34): Show c.3234+1407_3234+1408insTCCTCCACTACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400791	T T	TCACCACC others(8): Show TCACCACCACCACCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0088 a0001c0002t0001g0089	2	256	0.0078	15	c.323 others(34): Show c.3234+1542_3234+1543insACCTCCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	401090	A A	ACCATCAC others(8): Show ACCATCACCACCACCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0187 a0006c0010t0001g0187	1	256	0.0039	15	c.323 others(34): Show c.3234+1834_3234+1835insTCACCACCACCTCCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	444335	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp2 others(32): Show HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01978.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02145.hp1 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG03130.hp2 HG03490.hp1 HG03688.hp2 HG03834.hp1 HG04204.hp1 NA18612.hp2 NA18961.hp1 NA18968.hp1 NA18994.hp2 NA19007.hp1 NA19010.hp2 NA19062.hp2 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0013 a0019 a0023 a0024 a0032 a0049 a0052	a0001c0002 a0001c0003 a0001c0059 others(19): Show a0001c0002 a0001c0003 a0001c0059 a0001c0062 a0001c0064 a0002c0006 a0002c0007 a0002c0008 a0002c0096 a0003c0001 a0003c0004 a0003c0133 a0004c0041 a0006c0010 a0007c0009 a0013c0094 a0019c0047 a0023c0142 a0024c0124 a0032c0089 a0049c0153 a0052c0136	a0001c0002t0001 a0001c0003t0001 a0001c0059t0001 others(19): Show a0001c0002t0001 a0001c0003t0001 a0001c0059t0001 a0001c0062t0001 a0001c0064t0001 a0002c0006t0001 a0002c0007t0001 a0002c0008t0001 a0002c0096t0001 a0003c0001t0001 a0003c0004t0001 a0003c0133t0001 a0004c0041t0001 a0006c0010t0001 a0007c0009t0001 a0013c0094t0001 a0019c0047t0001 a0023c0142t0001 a0024c0124t0001 a0032c0089t0001 a0049c0153t0001 a0052c0136t0001	a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0102 others(32): Show a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0003t0001g0044 a0001c0003t0001g0098 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0059t0001g0100 a0001c0062t0001g0164 a0001c0064t0001g0032 a0002c0006t0001g0116 a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 a0002c0007t0001g0251 a0002c0007t0001g0252 a0002c0008t0001g0111 a0002c0096t0001g0010 a0003c0001t0001g0145 a0003c0001t0001g0149 a0003c0004t0001g0141 a0003c0133t0001g0142 a0004c0041t0001g0246 a0006c0010t0001g0185 a0007c0009t0001g0249 a0007c0009t0001g0254 a0007c0009t0001g0255 a0013c0094t0001g0095 a0019c0047t0001g0022 a0023c0142t0001g0168 a0024c0124t0001g0205 a0032c0089t0001g0120 a0049c0153t0001g0171 a0052c0136t0001g0155	35	256	0.1367	15	c.558 others(32): Show c.5580+835_5580+849dupAATAATAATAATAAT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	43/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK9_chr13_98788429_98983064	98814938	A A	AATAACAT others(8): Show AATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01243.hp1 others(25): Show HG00738.hp2 HG01168.hp1 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02080.hp1 HG02896.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 NA18612.hp1 NA18941.hp1 NA18948.hp1 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18975.hp2 NA18983.hp1 NA18987.hp1 NA19005.hp1 NA19012.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0030 a0001c0001 a0001c0002 a0001c0030	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0030t0001	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0036 others(25): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0152 a0001c0001t0001g0197 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0006g0308 a0001c0002t0001g0084 a0001c0002t0001g0118 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0030t0001g0083	28	348	0.0805	15	c.513 others(34): Show c.5131-4648_5131-4647insGTTATGTTATGTTAT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	45/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98887144	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 NA18963.hp2 others(2): Show HG02257.hp2 HG02559.hp1 NA18963.hp2 NA18998.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0013 a0001c0003 a0001c0004 a0001c0013	a0001c0003t0002 a0001c0004t0002 a0001c0013t0002 a0001c0003t0002 a0001c0004t0002 a0001c0013t0002	a0001c0003t0002g0279 a0001c0004t0002g0099 a0001c0004t0002g0113 others(2): Show a0001c0003t0002g0279 a0001c0004t0002g0099 a0001c0004t0002g0113 a0001c0004t0002g0128 a0001c0013t0002g0090	5	348	0.0144	15	c.204 others(32): Show c.2044-521_2044-520insTATATATATATATAT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	18/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98951903	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02735.hp1 HG04184.hp2 others(2): Show HG00621.hp2 HG02735.hp1 HG04184.hp2 NA18979.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0003 a0001c0001t0006 a0001c0021t0002 a0001c0001t0003 a0001c0001t0006 a0001c0021t0002	a0001c0001t0003g0294 a0001c0001t0003g0333 a0001c0001t0003g0341 others(2): Show a0001c0001t0003g0294 a0001c0001t0003g0333 a0001c0001t0003g0341 a0001c0001t0006g0337 a0001c0021t0002g0150	5	348	0.0144	15	c.243 others(32): Show c.243+3531_243+3532insAAAAAAAAAAAAAAA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	2/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98979229	T T	TAGTAGCA others(8): Show TAGTAGCAGCAGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0003 a0002c0008t0005g0003	1	348	0.0029	15	c.-13 others(26): Show c.-1321_-1320insGCTGCTGCTGCTACT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding		1166		chr13	TogoVar
DOCK9_chr13_98788429_98983064	98979229	T T	TAGTAGTA others(8): Show TAGTAGTAGTAGTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02559.hp2 NA18960.hp1 others(6): Show HG00099.hp2 HG02559.hp2 NA18960.hp1 NA18973.hp1 NA18999.hp1 NA19056.hp2 NA19066.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013	a0001c0002t0001 a0001c0003t0002 a0001c0004t0002 others(2): Show a0001c0002t0001 a0001c0003t0002 a0001c0004t0002 a0001c0006t0001 a0001c0013t0002	a0001c0002t0001g0087 a0001c0003t0002g0111 a0001c0003t0002g0112 others(6): Show a0001c0002t0001g0087 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0133 a0001c0004t0002g0093 a0001c0004t0002g0126 a0001c0006t0001g0098 a0001c0006t0001g0127 a0001c0013t0002g0086	9	348	0.0259	15	c.-13 others(26): Show c.-1321_-1320insGCTACTACTACTACT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding		1166		chr13	TogoVar
DOCK9_chr13_98788429_98983064	98979230	A A	AGTAGTAG others(8): Show AGTAGTAGTAGTAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0099 a0001c0004t0002g0099	1	348	0.0029	15	c.-13 others(26): Show c.-1322_-1321insCGCTACTACTACTAC	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding		1167		chr13	TogoVar
DOCK9_chr13_98788429_98983064	98979230	A A	AGTAGTAG others(8): Show AGTAGTAGTGGCGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	348	0.0029	15	c.-13 others(26): Show c.-1322_-1321insCGCCGCCACTACTAC	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding		1167		chr13	TogoVar
DOHH_chr19_3485824_3505674	3488853	G G	GGAGGCAG others(8): Show GGAGGCAGAGGTTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	15	c.26 others(26): Show c.2638_*2639insTGCAACCTCTGCCTC	DOHH	ENSG00000129932.10	transcript	ENST00000427575.6	protein_coding		1970		chr19	TogoVar
DOHH_chr19_3485824_3505674	3489855	G G	GGAAAAAA others(8): Show GGAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	392	0.0026	15	c.16 others(26): Show c.1636_*1637insGTTTTTTTTTTTTTC	DOHH	ENSG00000129932.10	transcript	ENST00000427575.6	protein_coding		968		chr19	TogoVar
DOHH_chr19_3485824_3505674	3489860	A A	AAAAAAAA others(8): Show AAAAAAAAAAACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	15	c.16 others(26): Show c.1631_*1632insGTTTGTTTTTTTTTT	DOHH	ENSG00000129932.10	transcript	ENST00000427575.6	protein_coding		963		chr19	TogoVar
DOHH_chr19_3485824_3505674	3489863	A A	AAAAAAAC others(8): Show AAAAAAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02630.hp2 HG01884.hp1 HG02145.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0004 a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0001t0003g0004 a0001c0001t0010g0045 a0001c0001t0010g0046	3	392	0.0077	15	c.16 others(26): Show c.1628_*1629insGTTTTTTTGTTTTTT	DOHH	ENSG00000129932.10	transcript	ENST00000427575.6	protein_coding		960		chr19	TogoVar
DOK1_chr2_74549720_74562551	74561091	A A	AAGGAGAA others(8): Show AAGGAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA19055.hp2 NA19068.hp2 NA18983.hp1 NA19055.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	334	0.0090	15	c.39 others(26): Show c.3977_*3978insAGGAGAAGGAGGAGG	DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding		3541		chr2	TogoVar
DOK1_chr2_74549720_74562551	74561142	A A	AAGGAGGA others(8): Show AAGGAGGAGGAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	15	c.40 others(26): Show c.4028_*4029insAGGAGGAGGAGAAGG	DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding		3592		chr2	TogoVar
DOK2_chr8_21903873_21918690	21916497	T T	TATAACAT others(8): Show TATAACATAACATAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 NA18951.hp1 NA19057.hp1 HG01943.hp1 NA18951.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0001 a0001c0020t0001g0054 a0001c0001t0001g0001 a0001c0020t0001g0054	3	442	0.0068	15	c.-28 others(26): Show c.-2897_-2896insGTTATGTTATGTTAT	DOK2	ENSG00000147443.13	transcript	ENST00000276420.9	protein_coding		2808		chr8	TogoVar
DOK3_chr5_177496904_177514826	177497008	G G	GGGGGAGG others(8): Show GGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01433.hp1 HG02056.hp1 others(7): Show HG00639.hp2 HG01433.hp1 HG02056.hp1 HG02074.hp2 HG02280.hp2 HG03239.hp1 HG03669.hp1 NA18945.hp2 NA18973.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0032 a0001c0001t0058 a0001c0001t0059	a0001c0001t0002g0002 a0001c0001t0002g0114 a0001c0001t0004g0004 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0114 a0001c0001t0004g0004 a0001c0001t0004g0009 a0001c0001t0016g0019 a0001c0001t0032g0058 a0001c0001t0058g0123 a0001c0001t0059g0124	10	436	0.0229	15	c.69 others(26): Show c.6974_*6975insTCCCCTCCCCTCCCC	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		4895		chr5	TogoVar
DOK3_chr5_177496904_177514826	177497643	C C	CGGGGGCG others(8): Show CGGGGGCGGGGCACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	436	0.0023	15	c.63 others(26): Show c.6339_*6340insTGGTGCCCCGCCCCC	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		4260		chr5	TogoVar
DOK5_chr20_54470593_54656169	54644718	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG02976.hp1 others(3): Show HG02258.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0001c0002t0029	a0001c0001t0001g0102 a0001c0001t0013g0075 a0001c0002t0001g0118 others(3): Show a0001c0001t0001g0102 a0001c0001t0013g0075 a0001c0002t0001g0118 a0001c0002t0004g0006 a0001c0002t0015g0126 a0001c0002t0029g0107	6	130	0.0462	15	c.856 others(32): Show c.856+1146_856+1147insAAAAAAAACAAAAAA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54644723	A A	AAACAAAA others(8): Show AAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0088 a0001c0001t0014g0088	1	130	0.0077	15	c.856 others(32): Show c.856+1146_856+1147insACAAAAAAAAAAACA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54644723	A A	AAACAAAA others(8): Show AAACAAAAAAAAACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01169.hp2 HG00733.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0068 a0001c0001t0006g0064 a0001c0001t0006g0068	2	130	0.0154	15	c.856 others(32): Show c.856+1146_856+1147insACAAAAAAAAACACA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54646248	G G	GTTTTTTG others(8): Show GTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG02572.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0099 a0001c0004t0001g0117 a0001c0004t0001g0099 a0001c0004t0001g0117	2	130	0.0154	15	c.856 others(32): Show c.856+2676_856+2677insGTTTTTTTTTTTTTT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54646248	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03130.hp1 HG03139.hp2 HG02897.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002	a0001c0001t0019g0057 a0001c0002t0001g0118 a0001c0002t0002g0062 a0001c0001t0019g0057 a0001c0002t0001g0118 a0001c0002t0002g0062	3	130	0.0231	15	c.856 others(32): Show c.856+2680_856+2694dupTTTTTTTTTTTTTTT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69405592	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA19043.hp1 HG01255.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0043 a0001c0003t0094 a0001c0001t0043 a0001c0003t0094	a0001c0001t0043g0003 a0001c0003t0094g0160 a0001c0001t0043g0003 a0001c0003t0094g0160	2	170	0.0118	15	c.66+ others(30): Show c.66+4305_66+4319dupATAAAATAAAATAAA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69536979	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03209.hp2 HG02683.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0054 a0001c0001t0005 a0001c0003t0054	a0001c0001t0005g0133 a0001c0003t0054g0013 a0001c0001t0005g0133 a0001c0003t0054g0013	2	170	0.0118	15	c.67- others(32): Show c.67-27492_67-27478dupATTATTATTATTATT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69587770	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0073 a0001c0001t0072g0073	1	170	0.0059	15	c.175 others(34): Show c.175-11614_175-11613insCACACACACACACAC	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	2/7			chr18	TogoVar
DONSON_chr21_33572551_33593684	33580463	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18977.hp1 NA19056.hp1 HG03195.hp1 NA18977.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0029 a0001c0001t0031 a0001c0001t0009 a0001c0001t0029 a0001c0001t0031	a0001c0001t0009g0099 a0001c0001t0029g0304 a0001c0001t0031g0134 a0001c0001t0009g0099 a0001c0001t0029g0304 a0001c0001t0031g0134	3	426	0.0070	15	c.135 others(32): Show c.1350+824_1350+838dupTTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	8/9			chr21	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01074.hp2 others(16): Show HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG02129.hp1 HG02280.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp1 NA18959.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 a0001c0001t0023 a0001c0001t0032 a0001c0001t0041 a0001c0001t0053 a0001c0001t0072 a0001c0001t0076 a0001c0001t0077 a0001c0001t0089 a0001c0001t0091 a0001c0006t0073	a0001c0001t0001g0200 a0001c0001t0001g0278 a0001c0001t0002g0201 others(16): Show a0001c0001t0001g0200 a0001c0001t0001g0278 a0001c0001t0002g0201 a0001c0001t0003g0169 a0001c0001t0006g0366 a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0008g0202 a0001c0001t0021g0386 a0001c0001t0023g0273 a0001c0001t0032g0367 a0001c0001t0041g0142 a0001c0001t0053g0141 a0001c0001t0072g0279 a0001c0001t0076g0274 a0001c0001t0077g0275 a0001c0001t0089g0163 a0001c0001t0091g0272 a0001c0006t0073g0392	19	426	0.0446	15	c.964 others(30): Show c.964+273_964+287dupTTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9			chr21	TogoVar
DOP1A_chr6_83062671_83173471	83117119	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02300.hp2 NA18944.hp1 others(2): Show HG00621.hp1 HG02300.hp2 NA18944.hp1 NA18954.hp1 NA18954.hp2	a0001 a0009 a0014 a0001 a0009 a0014	a0001c0001 a0009c0008 a0014c0009 a0001c0001 a0009c0008 a0014c0009	a0001c0001t0001 a0009c0008t0001 a0014c0009t0001 a0001c0001t0001 a0009c0008t0001 a0014c0009t0001	a0001c0001t0001g0122 a0001c0001t0001g0269 a0001c0001t0001g0273 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0269 a0001c0001t0001g0273 a0009c0008t0001g0147 a0014c0009t0001g0170	5	298	0.0168	15	c.781 others(32): Show c.781-1734_781-1720dupATTTTATTTTATTTT	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83150390	C C	CTCCAATA others(8): Show CTCCAATATTTTACTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(163): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012	a0001c0001 a0001c0015 a0001c0016 others(9): Show a0001c0001 a0001c0015 a0001c0016 a0002c0002 a0003c0003 a0003c0017 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0014 a0012c0011	a0001c0001t0001 a0001c0001t0003 a0001c0015t0003 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0015t0003 a0001c0016t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0017t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0004 a0007c0007t0002 a0008c0014t0003 a0012c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0026 others(150): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0233 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0036 a0001c0001t0003g0232 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0015t0003g0277 a0001c0016t0001g0272 a0002c0002t0001g0109 a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0022 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0017t0001g0254 a0004c0004t0001g0003 a0004c0004t0001g0004 a0004c0004t0001g0046 a0004c0004t0001g0047 a0004c0004t0001g0048 a0005c0005t0001g0039 a0005c0005t0001g0040 a0005c0005t0001g0041 a0005c0005t0001g0042 a0006c0006t0004g0018 a0006c0006t0004g0019 a0006c0006t0004g0020 a0006c0006t0004g0021 a0007c0007t0002g0084 a0008c0014t0003g0037 a0012c0011t0001g0028	166	298	0.5571	15	c.583 others(34): Show c.5838-1202_5838-1201insCCAATATTTTACTGT	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1B_chr21_36151824_36299274	36242151	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02486.hp1 HG02976.hp1 others(2): Show HG01099.hp1 HG02486.hp1 HG02976.hp1 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0179 a0001c0002t0001g0218 a0001c0005t0001g0049 others(2): Show a0001c0002t0001g0179 a0001c0002t0001g0218 a0001c0005t0001g0049 a0001c0005t0001g0260 a0001c0005t0001g0273	5	292	0.0171	15	c.306 others(34): Show c.3067+2221_3067+2235dupATTATTATTATTATT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36242151	C C	CATTATTG others(8): Show CATTATTGTTATTATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01167.hp1 others(28): Show HG00558.hp2 HG01106.hp1 HG01167.hp1 HG01975.hp2 HG02074.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02698.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp1 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18973.hp1 NA18979.hp1 NA18985.hp2 NA18987.hp1 NA18999.hp1 NA19060.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010	a0001c0001 a0001c0002 a0002c0004 others(5): Show a0001c0001 a0001c0002 a0002c0004 a0003c0008 a0005c0017 a0006c0009 a0008c0013 a0010c0019	a0001c0001t0002 a0001c0002t0001 a0002c0004t0001 others(8): Show a0001c0001t0002 a0001c0002t0001 a0002c0004t0001 a0002c0004t0002 a0003c0008t0002 a0005c0017t0001 a0005c0017t0002 a0006c0009t0001 a0008c0013t0001 a0008c0013t0002 a0010c0019t0001	a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0065 others(28): Show a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0002t0001g0105 a0001c0002t0001g0112 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0135 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0245 a0001c0002t0001g0250 a0002c0004t0001g0076 a0002c0004t0001g0100 a0002c0004t0001g0148 a0002c0004t0001g0152 a0002c0004t0001g0189 a0002c0004t0002g0039 a0003c0008t0002g0041 a0005c0017t0001g0264 a0005c0017t0002g0048 a0006c0009t0001g0051 a0006c0009t0001g0185 a0006c0009t0001g0262 a0006c0009t0001g0278 a0006c0009t0001g0279 a0008c0013t0001g0229 a0008c0013t0002g0023 a0008c0013t0002g0029 a0010c0019t0001g0222 a0010c0019t0001g0223	31	292	0.1062	15	c.306 others(34): Show c.3067+2202_3067+2203insGTTATTATTATTATT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36242151	C C	CATTATTG others(8): Show CATTATTGTTGTTATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp1 HG00609.hp2 HG01109.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0012 a0001c0002 a0003c0012	a0001c0002t0001 a0003c0012t0001 a0001c0002t0001 a0003c0012t0001	a0001c0002t0001g0213 a0003c0012t0001g0110 a0001c0002t0001g0213 a0003c0012t0001g0110	2	292	0.0069	15	c.306 others(34): Show c.3067+2202_3067+2203insGTTGTTATTATTATT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36246843	A A	ATTATGTT others(8): Show ATTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	292	0.0034	15	c.469 others(32): Show c.4697+206_4697+220dupGTTATGTTATGTTAT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	19/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPEP1_chr16_89608642_89643433	89630590	C C	CTGGGGCT others(8): Show CTGGGGCTGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	250	0.0040	15	c.104 others(28): Show c.104+76_104+77insTGGGGCTGGGGGGAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89630621	A A	AGGGCTGG others(8): Show AGGGCTGGGGGTGCCG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	250	0.0040	15	c.104 others(30): Show c.104+133_104+147dupTGCCGGGGCTGGGGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89630640	C C	TTGGGGGT others(8): Show TTGGGGGTGCCGGGGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0085 a0005c0009t0001g0085	1	250	0.0040	15	c.104 others(30): Show c.104+125_104+126insTTGGGGGTGCCGGGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634589	T T	TCCTTTCC others(8): Show TCCTTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01070.hp2 others(11): Show HG00099.hp1 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02735.hp1 HG03130.hp1 HG03834.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223	14	250	0.0560	15	c.105 others(32): Show c.105-1318_105-1304dupCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634674	C C	CCCCTTCC others(8): Show CCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(56): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02896.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03540.hp1 HG03688.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18944.hp2 NA18975.hp1 NA18983.hp2 NA18999.hp2 NA19000.hp1 NA19011.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0004c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0053 others(56): Show a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0242 a0002c0002t0001g0032 a0002c0002t0001g0076 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0131 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0075 a0004c0005t0001g0178 a0004c0005t0001g0181	59	250	0.2360	15	c.105 others(32): Show c.105-1224_105-1223insCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634802	C C	CCCCTTCC others(8): Show CCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0085 a0005c0009t0001g0085	1	250	0.0040	15	c.105 others(32): Show c.105-1102_105-1088dupTTCCTTCCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634939	T T	TCCTTTCC others(8): Show TCCTTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	250	0.0040	15	c.105 others(30): Show c.105-968_105-954dupCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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