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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
COL6A2_chr21_46093112_46137848	46135836	T T	TCCCAGCC others(7): Show TCCCAGCCTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01928.hp2 HG02273.hp2 others(5): Show HG00609.hp1 HG01928.hp2 HG02273.hp2 HG03834.hp2 NA18612.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0001 a0001c0001t0001 a0003c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0135 a0001c0001t0001g0136 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0172 a0003c0010t0001g0310	8	364	0.0220	14	c.32 others(25): Show c.3284_*3285insCCCAGCCTCCCCTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2989		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135877	T T	TCCCAGCC others(7): Show TCCCAGCCTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0222 a0002c0003t0001g0222	1	364	0.0028	14	c.33 others(25): Show c.3325_*3326insCCCAGCCTCCCCTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3030		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135886	C C	CCCCTCCC others(7): Show CCCCTCCCCAGCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0297 a0001c0002t0002g0297	1	364	0.0028	14	c.33 others(25): Show c.3334_*3335insCCCTCCCCAGCGTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3039		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02257.hp1 HG02922.hp1 others(6): Show HG00558.hp2 HG02257.hp1 HG02922.hp1 HG03195.hp2 HG04228.hp2 NA18939.hp2 NA19003.hp1 NA19088.hp1 NA19090.hp2	a0002 a0004 a0041 others(2): Show a0002 a0004 a0041 a0066 a0069	a0002c0001 a0002c0022 a0004c0016 others(4): Show a0002c0001 a0002c0022 a0004c0016 a0004c0072 a0041c0136 a0066c0133 a0069c0048	a0002c0001t0001 a0002c0001t0002 a0002c0022t0002 others(5): Show a0002c0001t0001 a0002c0001t0002 a0002c0022t0002 a0004c0016t0003 a0004c0072t0001 a0041c0136t0001 a0066c0133t0001 a0069c0048t0001	a0002c0001t0001g0262 a0002c0001t0001g0276 a0002c0001t0002g0241 others(6): Show a0002c0001t0001g0262 a0002c0001t0001g0276 a0002c0001t0002g0241 a0002c0022t0002g0021 a0004c0016t0003g0134 a0004c0072t0001g0185 a0041c0136t0001g0165 a0066c0133t0001g0015 a0069c0048t0001g0051	9	322	0.0280	14	c.932 others(33): Show c.9328+1366_9328+1379dupATATATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01346.hp2 HG01884.hp1 others(5): Show HG01167.hp1 HG01346.hp2 HG01884.hp1 HG01943.hp2 HG02083.hp2 HG02132.hp1 HG03831.hp1 NA19081.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0011 a0018 a0038	a0001c0037 a0003c0005 a0003c0015 others(4): Show a0001c0037 a0003c0005 a0003c0015 a0004c0006 a0011c0088 a0018c0020 a0038c0052	a0001c0037t0003 a0003c0005t0003 a0003c0015t0001 others(4): Show a0001c0037t0003 a0003c0005t0003 a0003c0015t0001 a0004c0006t0003 a0011c0088t0003 a0018c0020t0003 a0038c0052t0003	a0001c0037t0003g0022 a0003c0005t0003g0156 a0003c0015t0001g0272 others(5): Show a0001c0037t0003g0022 a0003c0005t0003g0156 a0003c0015t0001g0272 a0004c0006t0003g0090 a0011c0088t0003g0173 a0018c0020t0003g0054 a0018c0020t0003g0058 a0038c0052t0003g0082	8	322	0.0248	14	c.932 others(33): Show c.9328+1332_9328+1333insCATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362252	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02280.hp2 HG02647.hp1 others(3): Show HG01346.hp1 HG02280.hp2 HG02647.hp1 HG02922.hp2 HG02976.hp2 NA21309.hp2	a0037 a0041 a0071 others(2): Show a0037 a0041 a0071 a0072 a0087	a0037c0032 a0041c0033 a0071c0071 others(2): Show a0037c0032 a0041c0033 a0071c0071 a0072c0072 a0087c0076	a0037c0032t0001 a0041c0033t0008 a0071c0071t0001 others(2): Show a0037c0032t0001 a0041c0033t0008 a0071c0071t0001 a0072c0072t0001 a0087c0076t0001	a0037c0032t0001g0181 a0041c0033t0008g0173 a0041c0033t0008g0174 others(3): Show a0037c0032t0001g0181 a0041c0033t0008g0173 a0041c0033t0008g0174 a0071c0071t0001g0180 a0072c0072t0001g0182 a0087c0076t0001g0274	6	292	0.0206	14	c.-28 others(33): Show c.-28-11353_-28-11340dupCTCTCTCTCTCTCT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130439339	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19005.hp1 NA19062.hp1 others(1): Show NA18982.hp1 NA19005.hp1 NA19062.hp1 NA19080.hp1	a0013 a0014 a0013 a0014	a0013c0016 a0014c0013 a0013c0016 a0014c0013	a0013c0016t0001 a0014c0013t0001 a0013c0016t0001 a0014c0013t0001	a0013c0016t0001g0144 a0014c0013t0001g0098 a0014c0013t0001g0145 others(1): Show a0013c0016t0001g0144 a0014c0013t0001g0098 a0014c0013t0001g0145 a0014c0013t0001g0146	4	292	0.0137	14	c.573 others(31): Show c.5734-156_5734-143dupTGTGTGTGTGTGTG	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	33/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130472832	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00639.hp1 others(29): Show HG00140.hp1 HG00408.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02080.hp1 HG02109.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02615.hp2 HG02698.hp2 HG02965.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03688.hp2 HG03710.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18906.hp2 NA18984.hp2 NA18989.hp1 NA19001.hp1 NA19030.hp1 NA19077.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0007 a0008 a0009 a0011 a0017 a0018 a0019 a0021 a0026 a0027 a0033 a0051 a0060 a0065 a0067 a0078 a0084 a0089	a0001c0001 a0001c0014 a0002c0002 others(20): Show a0001c0001 a0001c0014 a0002c0002 a0002c0034 a0003c0004 a0007c0064 a0008c0010 a0009c0009 a0011c0012 a0017c0019 a0018c0018 a0019c0017 a0021c0096 a0026c0038 a0027c0090 a0033c0029 a0051c0085 a0060c0074 a0065c0060 a0067c0058 a0078c0062 a0084c0049 a0089c0102	a0001c0001t0002 a0001c0014t0002 a0002c0002t0001 others(22): Show a0001c0001t0002 a0001c0014t0002 a0002c0002t0001 a0002c0002t0002 a0002c0034t0002 a0003c0004t0002 a0007c0064t0006 a0008c0010t0001 a0009c0009t0002 a0011c0012t0001 a0017c0019t0002 a0018c0018t0005 a0019c0017t0001 a0019c0017t0003 a0021c0096t0001 a0026c0038t0002 a0027c0090t0002 a0033c0029t0001 a0051c0085t0003 a0060c0074t0002 a0065c0060t0005 a0067c0058t0001 a0078c0062t0003 a0084c0049t0001 a0089c0102t0005	a0001c0001t0002g0198 a0001c0001t0002g0242 a0001c0001t0002g0246 others(29): Show a0001c0001t0002g0198 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0014t0002g0255 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0002g0032 a0002c0002t0002g0227 a0002c0034t0002g0231 a0003c0004t0002g0221 a0007c0064t0006g0038 a0008c0010t0001g0108 a0008c0010t0001g0142 a0008c0010t0001g0169 a0009c0009t0002g0101 a0011c0012t0001g0023 a0017c0019t0002g0249 a0018c0018t0005g0054 a0019c0017t0001g0153 a0019c0017t0003g0278 a0021c0096t0001g0109 a0026c0038t0002g0263 a0027c0090t0002g0280 a0033c0029t0001g0117 a0033c0029t0001g0120 a0051c0085t0003g0082 a0060c0074t0002g0034 a0065c0060t0005g0042 a0067c0058t0001g0024 a0078c0062t0003g0216 a0084c0049t0001g0126 a0089c0102t0005g0056	32	292	0.1096	14	c.781 others(31): Show c.7819+920_7819+933dupTATATATATATATA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130531054	A A	AGTCTCTC others(7): Show AGTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG03195.hp1 HG01891.hp2 HG02559.hp2 HG03195.hp1	a0003 a0013 a0003 a0013	a0003c0071 a0013c0028 a0003c0071 a0013c0028	a0003c0071t0004 a0013c0028t0004 a0013c0028t0011 a0003c0071t0004 a0013c0028t0004 a0013c0028t0011	a0003c0071t0004g0200 a0013c0028t0004g0199 a0013c0028t0011g0244 a0003c0071t0004g0200 a0013c0028t0004g0199 a0013c0028t0011g0244	3	264	0.0114	14	c.-32 others(33): Show c.-32+13657_-32+13658insGTCTCTCTCTCTCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130599014	A A	ATCTCTCT others(7): Show ATCTCTCTCAACAAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0067 a0006c0067	a0006c0067t0029 a0006c0067t0029	a0006c0067t0029g0259 a0006c0067t0029g0259	1	264	0.0038	14	c.459 others(31): Show c.4599+584_4599+585insTCTCTCTCAACAAC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	19/36			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130637082	T T	TTCTCTCC others(7): Show TTCTCTCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG02015.hp1 others(20): Show HG00597.hp2 HG00609.hp1 HG02015.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 NA18942.hp2 NA18951.hp1 NA18952.hp1 NA18960.hp1 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18979.hp2 NA18995.hp2 NA18998.hp1 NA19058.hp2 NA19064.hp1 NA19077.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp2	a0001 a0004 a0011 others(6): Show a0001 a0004 a0011 a0013 a0022 a0037 a0039 a0045 a0046	a0001c0001 a0001c0056 a0004c0004 others(7): Show a0001c0001 a0001c0056 a0004c0004 a0011c0008 a0013c0012 a0022c0024 a0037c0069 a0039c0064 a0045c0050 a0046c0054	a0001c0001t0005 a0001c0056t0002 a0004c0004t0001 others(15): Show a0001c0001t0005 a0001c0056t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0009 a0004c0004t0010 a0011c0008t0001 a0011c0008t0002 a0013c0012t0001 a0013c0012t0006 a0022c0024t0005 a0022c0024t0018 a0037c0069t0002 a0039c0064t0005 a0045c0050t0005 a0046c0054t0002	a0001c0001t0005g0061 a0001c0056t0002g0059 a0004c0004t0001g0172 others(20): Show a0001c0001t0005g0061 a0001c0056t0002g0059 a0004c0004t0001g0172 a0004c0004t0001g0206 a0004c0004t0002g0039 a0004c0004t0002g0047 a0004c0004t0003g0119 a0004c0004t0005g0043 a0004c0004t0009g0247 a0004c0004t0009g0254 a0004c0004t0010g0250 a0011c0008t0001g0154 a0011c0008t0001g0173 a0011c0008t0002g0049 a0013c0012t0001g0115 a0013c0012t0006g0040 a0013c0012t0006g0086 a0022c0024t0005g0037 a0022c0024t0018g0097 a0037c0069t0002g0046 a0039c0064t0005g0085 a0045c0050t0005g0067 a0046c0054t0002g0055	23	264	0.0871	14	c.509 others(33): Show c.5091+1338_5091+1351dupTCTCCCTCCCCCTC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130642243	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03579.hp2 HG06807.hp1 HG02970.hp2 HG03579.hp2 HG06807.hp1	a0003 a0026 a0003 a0026	a0003c0061 a0026c0035 a0003c0061 a0026c0035	a0003c0061t0015 a0026c0035t0001 a0003c0061t0015 a0026c0035t0001	a0003c0061t0015g0196 a0026c0035t0001g0002 a0003c0061t0015g0196 a0026c0035t0001g0002	3	264	0.0114	14	c.515 others(31): Show c.5154+559_5155-546dupGTGTGTGTGTGTGT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99633643	G G	GTGGTGTG others(7): Show GTGGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01361.hp2 HG01934.hp2 others(14): Show HG00323.hp2 HG01361.hp2 HG01934.hp2 HG02027.hp1 HG02132.hp2 HG02148.hp2 HG02280.hp2 HG02293.hp1 HG02976.hp2 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18943.hp1 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019	a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0002g0162 others(14): Show a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0202 a0001c0001t0002g0240 a0001c0001t0002g0248 a0001c0001t0003g0187 a0001c0001t0003g0194 a0001c0001t0004g0201 a0001c0001t0005g0125 a0001c0001t0019g0179	17	262	0.0649	14	c.-51 others(25): Show c.-5150_-5149insTGGTGTGTGTGTGT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding		4950		chr3	TogoVar
COL8A1_chr3_99633594_99804217	99633643	G G	GTGTGGTG others(7): Show GTGTGGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19064.hp2 NA19054.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0200 a0001c0001t0003g0185 a0001c0001t0003g0200	2	262	0.0076	14	c.-51 others(25): Show c.-5150_-5149insTGTGGTGTGTGTGT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding		4950		chr3	TogoVar
COL9A1_chr6_70211126_70308084	70215912	A A	AACACACA others(7): Show AACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp1 others(70): Show HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18949.hp1 NA18955.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18977.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19066.hp1 NA19075.hp1 NA19076.hp1 NA19088.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0017 a0001c0029 others(9): Show a0001c0001 a0001c0017 a0001c0029 a0001c0031 a0002c0002 a0002c0004 a0002c0008 a0003c0003 a0003c0010 a0004c0009 a0005c0005 a0005c0028	a0001c0001t0002 a0001c0001t0009 a0001c0017t0002 others(10): Show a0001c0001t0002 a0001c0001t0009 a0001c0017t0002 a0001c0029t0002 a0001c0031t0002 a0002c0002t0002 a0002c0004t0002 a0002c0008t0002 a0003c0003t0002 a0003c0010t0002 a0004c0009t0002 a0005c0005t0002 a0005c0028t0002	a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0062 others(69): Show a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0287 a0001c0001t0002g0318 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0017t0002g0138 a0001c0017t0002g0185 a0001c0029t0002g0174 a0001c0031t0002g0175 a0002c0002t0002g0214 a0002c0002t0002g0309 a0002c0004t0002g0006 a0002c0004t0002g0020 a0002c0004t0002g0049 a0002c0004t0002g0050 a0002c0004t0002g0051 a0002c0004t0002g0086 a0002c0004t0002g0217 a0002c0004t0002g0220 a0002c0004t0002g0235 a0002c0004t0002g0294 a0002c0004t0002g0295 a0002c0004t0002g0299 a0002c0008t0002g0069 a0002c0008t0002g0091 a0002c0008t0002g0092 a0002c0008t0002g0313 a0003c0003t0002g0047 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0253 a0003c0010t0002g0084 a0004c0009t0002g0237 a0005c0005t0002g0248 a0005c0028t0002g0324	73	362	0.2017	14	c.98 others(23): Show c.984_*985insGTGTGTGTGTGTGT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding		213		chr6	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03540.hp1 HG03453.hp2 HG03540.hp1	a0003 a0013 a0003 a0013	a0003c0003 a0013c0026 a0003c0003 a0013c0026	a0003c0003t0010 a0013c0026t0001 a0003c0003t0010 a0013c0026t0001	a0003c0003t0010g0241 a0013c0026t0001g0249 a0003c0003t0010g0241 a0013c0026t0001g0249	2	362	0.0055	14	c.250 others(33): Show c.2504-1429_2504-1416dupTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70240612	T T	TTAGAAGT others(7): Show TTAGAAGTATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0057 a0002c0002t0003g0057	1	362	0.0028	14	c.207 others(29): Show c.2079+63_2079+76dupTATATATACTTCTA	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	32/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267319	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0252 a0003c0003t0002g0252	1	362	0.0028	14	c.128 others(31): Show c.1288-550_1288-549insAAAAAAAAAAAAAA	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267327	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0059 a0002c0004t0001g0059	1	362	0.0028	14	c.128 others(31): Show c.1288-558_1288-557insAAAAAAAAAAAAAA	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70293631	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0255 a0005c0005t0001g0255	1	362	0.0028	14	c.696 others(29): Show c.696+522_696+535dupTGTGTGTGTGTGTG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	5/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40314633	A A	AGGTACAG others(7): Show AGGTACAGACATGCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	438	0.0023	14	c.151 others(29): Show c.151-260_151-247dupAGCATGTCTGTACC	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	2/31			chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318310	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	438	0.0023	14	c.-11 others(25): Show c.-1114_-1113insAAAAAAAAAAAAAA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1025		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AAATTATA others(7): Show AAATTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA18945.hp2 HG03486.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0009 a0001c0001t0001g0011	2	438	0.0046	14	c.-39 others(25): Show c.-3926_-3925insATATATATATAATT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321123	T T	TTATATAT others(7): Show TTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	438	0.0023	14	c.-39 others(25): Show c.-3927_-3926insTATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3838		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321158	T T	TATATATA others(7): Show TATATATATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02523.hp1 HG03704.hp1 others(2): Show HG00609.hp2 HG02523.hp1 HG03704.hp1 NA18949.hp2 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0037 a0002c0002t0001g0048 a0002c0002t0001g0006 a0002c0002t0001g0037 a0002c0002t0001g0048	5	438	0.0114	14	c.-39 others(25): Show c.-3962_-3961insTTTTATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3873		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	388	0.0026	14	c.148 others(31): Show c.148+2201_148+2202insAAAAAATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119070446	G G	GCTCTCTC others(7): Show GCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02145.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0237 a0001c0001t0006g0171 a0001c0001t0004g0237 a0001c0001t0006g0171	2	388	0.0052	14	c.148 others(31): Show c.148+3035_148+3048dupTCTCTCTCTCTCTC	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091573	A A	AAGAAAGA others(7): Show AAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0342 a0001c0001t0003g0342	1	388	0.0026	14	c.292 others(29): Show c.292+356_292+357insAAGAGAGAGAGAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(7): Show GAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	388	0.0026	14	c.292 others(29): Show c.292+378_292+379insGAGAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(7): Show GATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0222 a0002c0001t0222	a0002c0001t0222g0346 a0002c0001t0222g0346	1	366	0.0027	14	c.78 others(25): Show c.7837_*7838insATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	319323	A A	AATATATA others(7): Show AATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0102 a0003c0002t0102	a0003c0002t0102g0263 a0003c0002t0102g0263	1	366	0.0027	14	c.72 others(23): Show c.721_*722insATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	721		chr18	TogoVar
COLEC12_chr18_311737_505701	319329	A A	AATATATA others(7): Show AATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0052	a0001c0004t0052g0005 a0001c0004t0052g0005	1	366	0.0027	14	c.71 others(23): Show c.715_*716insATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	715		chr18	TogoVar
COLEC12_chr18_311737_505701	319331	A A	AATATATA others(7): Show AATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0116 a0003c0002t0116	a0003c0002t0116g0020 a0003c0002t0116g0020	1	366	0.0027	14	c.71 others(23): Show c.713_*714insATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	713		chr18	TogoVar
COLEC12_chr18_311737_505701	473364	C C	CCAGCTCA others(7): Show CCAGCTCAAATCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0247 a0001c0005t0247	a0001c0005t0247g0355 a0001c0005t0247g0355	1	366	0.0027	14	c.58+ others(29): Show c.58+7342_58+7343insAGAGATTTGAGCTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	497383	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03098.hp2 HG01978.hp1 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0002 a0001c0003 a0003c0002	a0001c0003t0038 a0003c0002t0226 a0001c0003t0038 a0003c0002t0226	a0001c0003t0038g0016 a0003c0002t0226g0338 a0001c0003t0038g0016 a0003c0002t0226g0338	2	366	0.0055	14	c.7+3 others(27): Show c.7+3111_7+3124dupACACACACACACAC	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COLEC12_chr18_311737_505701	498377	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp1 HG01884.hp1 HG03098.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0101 a0003c0002t0204 a0002c0001t0101 a0003c0002t0204	a0002c0001t0101g0079 a0003c0002t0204g0007 a0002c0001t0101g0079 a0003c0002t0204g0007	2	366	0.0055	14	c.7+2 others(27): Show c.7+2130_7+2131insCAAAAAAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COLEC12_chr18_311737_505701	502330	T T	TTTTTTTT others(7): Show TTTTTTTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0110 a0003c0002t0110	a0003c0002t0110g0084 a0003c0002t0110g0084	1	366	0.0027	14	c.-18 others(25): Show c.-1817_-1816insGAAAGAAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1630		chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977804	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0210 a0001c0001t0009g0210	1	340	0.0029	14	c.374 others(29): Show c.374+605_374+606insCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	183977812	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00673.hp1 others(6): Show HG00558.hp2 HG00609.hp1 HG00673.hp1 HG02055.hp2 HG02155.hp2 NA18974.hp1 NA18994.hp1 NA18999.hp1 NA19057.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0005c0012 others(1): Show a0001c0001 a0001c0002 a0005c0012 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0042 a0001c0002t0006 a0005c0012t0002 a0007c0007t0001	a0001c0001t0001g0182 a0001c0001t0003g0153 a0001c0001t0004g0012 others(6): Show a0001c0001t0001g0182 a0001c0001t0003g0153 a0001c0001t0004g0012 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0042g0318 a0001c0002t0006g0097 a0005c0012t0002g0107 a0007c0007t0001g0129	9	340	0.0265	14	c.374 others(29): Show c.374+584_374+597dupCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184037754	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18977.hp2 NA18999.hp2 others(1): Show NA18954.hp2 NA18977.hp2 NA18999.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0006t0002	a0001c0001t0001g0120 a0001c0001t0003g0136 a0001c0001t0005g0117 others(1): Show a0001c0001t0001g0120 a0001c0001t0003g0136 a0001c0001t0005g0117 a0001c0006t0002g0140	4	340	0.0118	14	c.-39 others(23): Show c.-398_-397insACACACACACACAC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding		27		chr1	TogoVar
COMMD10_chr5_116080025_116298287	116140229	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02280.hp1 HG02647.hp2 HG00438.hp1 HG02280.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0002c0003t0001g0052 a0001c0001t0001g0005 a0001c0001t0001g0010 a0002c0003t0001g0052	3	350	0.0086	14	c.510 others(31): Show c.510+6052_510+6053insGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG03130.hp2 others(2): Show HG01243.hp1 HG01496.hp1 HG03130.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0335 a0001c0001t0001g0337 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0005g0194	5	350	0.0143	14	c.510 others(31): Show c.510+6065_510+6078dupGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158152	C C	CCCTCCCT others(7): Show CCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	350	0.0029	14	c.510 others(33): Show c.510+23976_510+23989dupCTCCCTCCCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158160	C C	CCTCTCCT others(7): Show CCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	350	0.0029	14	c.510 others(33): Show c.510+23983_510+23984insTCTCCTCTCCTCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00639.hp2 others(33): Show HG00438.hp1 HG00597.hp1 HG00639.hp2 HG01346.hp1 HG01361.hp2 HG01891.hp2 HG02015.hp2 HG02071.hp1 HG02083.hp1 HG02717.hp1 HG02723.hp1 HG02922.hp2 HG03453.hp2 HG04199.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp1 NA18981.hp1 NA18982.hp1 NA18989.hp2 NA18991.hp1 NA19001.hp1 NA19002.hp1 NA19054.hp1 NA19056.hp2 NA19064.hp1 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0080 a0001c0001t0001g0322 a0001c0001t0002g0292 others(32): Show a0001c0001t0001g0080 a0001c0001t0001g0322 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0002c0003t0001g0002 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066	36	350	0.1029	14	c.510 others(33): Show c.510+78332_510+78345dupGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295583	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	350	0.0029	14	c.30 others(25): Show c.3094_*3095insAAAAAAAAAAAAAA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2297		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02647.hp1 HG02922.hp2 others(3): Show HG01978.hp1 HG02647.hp1 HG02922.hp2 NA18979.hp2 NA19006.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0214 others(3): Show a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0244 a0001c0001t0002g0292	6	350	0.0171	14	c.31 others(25): Show c.3119_*3120insAAAAAAAAAAAAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(7): Show AAAAAAAAAAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02148.hp1 NA18612.hp1 others(6): Show HG01928.hp1 HG02148.hp1 NA18612.hp1 NA18943.hp1 NA18950.hp1 NA18972.hp1 NA18981.hp2 NA19056.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0218 others(6): Show a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0290	9	350	0.0257	14	c.31 others(25): Show c.3119_*3120insAAAAAAAAAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(7): Show AAAAAAAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG02717.hp1 HG02723.hp1 others(3): Show HG01516.hp1 HG02717.hp1 HG02723.hp1 HG03453.hp2 NA19056.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0226 a0001c0001t0002g0293 a0001c0001t0002g0295 others(3): Show a0001c0001t0001g0226 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0002c0003t0001g0001 a0002c0003t0001g0057	6	350	0.0171	14	c.31 others(25): Show c.3119_*3120insAAAAAAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	61990903	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	286	0.0035	14	c.181 others(31): Show c.181-9774_181-9761dupCACACACACACACA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)