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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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	46135325	T T	TCATGGTC others(18): Show TCATGGTCCCAACACCAATGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(42): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG01109.hp2 HG01255.hp2 HG01257.hp2 HG01884.hp1 HG02040.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18947.hp2 NA19030.hp1 NA19065.hp2 NA19070.hp1 NA19080.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0002c0003 others(5): Show a0001c0002 a0001c0004 a0002c0003 a0002c0061 a0002c0062 a0003c0010 a0003c0064 a0004c0005	a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 others(6): Show a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0002c0003t0015 a0002c0061t0001 a0002c0062t0001 a0003c0010t0001 a0003c0064t0001 a0004c0005t0004	a0001c0002t0001g0039 a0001c0002t0001g0322 a0001c0004t0001g0127 others(41): Show a0001c0002t0001g0039 a0001c0002t0001g0322 a0001c0004t0001g0127 a0001c0004t0001g0142 a0001c0004t0001g0143 a0002c0003t0001g0006 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0031 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0065 a0002c0003t0001g0068 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0015g0088 a0002c0061t0001g0063 a0002c0062t0001g0226 a0003c0010t0001g0207 a0003c0010t0001g0209 a0003c0064t0001g0195 a0004c0005t0004g0238 a0004c0005t0004g0239	45	364	0.1236	25	c.27 others(36): Show c.2773_*2774insCATGGTCCCAACACCAATGTCCCCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2478		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135350	T T	TCATGGTC others(18): Show TCATGGTCCCAACACCAATGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02083.hp2 others(4): Show HG00639.hp2 HG02055.hp2 HG02083.hp2 HG03516.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0007 a0002c0013 a0002c0031 others(3): Show a0001c0007 a0002c0013 a0002c0031 a0002c0055 a0003c0063 a0013c0057	a0001c0007t0001 a0002c0013t0001 a0002c0031t0001 others(3): Show a0001c0007t0001 a0002c0013t0001 a0002c0031t0001 a0002c0055t0001 a0003c0063t0001 a0013c0057t0001	a0001c0007t0001g0302 a0002c0013t0001g0217 a0002c0013t0001g0219 others(4): Show a0001c0007t0001g0302 a0002c0013t0001g0217 a0002c0013t0001g0219 a0002c0031t0001g0218 a0002c0055t0001g0048 a0003c0063t0001g0046 a0013c0057t0001g0221	7	364	0.0192	25	c.27 others(36): Show c.2798_*2799insCATGGTCCCAACACCAATGTCCCCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2503		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(18): Show ATATATATATATATATTATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02027.hp2 others(12): Show HG00408.hp1 HG00408.hp2 HG02027.hp2 HG02135.hp2 HG02809.hp2 HG02886.hp2 HG03225.hp2 HG03239.hp1 NA18942.hp1 NA18955.hp1 NA18964.hp2 NA18975.hp2 NA19068.hp2 NA19087.hp2 NA19240.hp2	a0001 a0003 a0006 others(7): Show a0001 a0003 a0006 a0012 a0014 a0016 a0039 a0051 a0054 a0056	a0001c0002 a0001c0004 a0001c0014 others(10): Show a0001c0002 a0001c0004 a0001c0014 a0003c0026 a0006c0007 a0006c0096 a0012c0013 a0014c0021 a0016c0019 a0039c0128 a0051c0083 a0054c0077 a0056c0063	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(12): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0004t0002 a0001c0014t0002 a0003c0026t0001 a0006c0007t0002 a0006c0096t0002 a0012c0013t0002 a0014c0021t0002 a0016c0019t0001 a0039c0128t0004 a0051c0083t0001 a0054c0077t0001 a0056c0063t0001	a0001c0002t0001g0150 a0001c0002t0003g0159 a0001c0002t0006g0006 others(12): Show a0001c0002t0001g0150 a0001c0002t0003g0159 a0001c0002t0006g0006 a0001c0004t0002g0296 a0001c0014t0002g0114 a0003c0026t0001g0186 a0006c0007t0002g0214 a0006c0096t0002g0155 a0012c0013t0002g0017 a0014c0021t0002g0266 a0016c0019t0001g0216 a0039c0128t0004g0010 a0051c0083t0001g0141 a0054c0077t0001g0087 a0056c0063t0001g0044	15	322	0.0466	25	c.932 others(44): Show c.9328+1332_9328+1333insCATATATATAATATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTATATAT others(18): Show GTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 HG01175.hp2 others(23): Show HG00140.hp2 HG01109.hp2 HG01175.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG02148.hp1 HG03017.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 NA18612.hp2 NA18971.hp1 NA18980.hp2 NA18990.hp1 NA19009.hp1 NA19043.hp2 NA19064.hp1 NA19074.hp1 NA19079.hp2 NA19085.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0006 a0001c0001 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0001c0005t0001 a0002c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0054 others(22): Show a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0001t0001g0252 a0001c0001t0004g0253 a0001c0001t0009g0106 a0001c0001t0015g0003 a0001c0005t0001g0115 a0002c0006t0001g0087	26	262	0.0992	25	c.-3- others(42): Show c.-3-16842_-3-16841insATTATATATATATATATATATATAT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTGTATAT others(18): Show GTGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 homoSapiens_chm13v2.hp1 HG02698.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0118 a0001c0001t0001g0081 a0001c0001t0001g0118	2	262	0.0076	25	c.-3- others(42): Show c.-3-16864_-3-16863insGTATATATATATATATATATATATT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(18): Show ATATTATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18983.hp2 HG01069.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0174 a0001c0001t0001g0107 a0001c0001t0001g0174	2	262	0.0076	25	c.-3- others(42): Show c.-3-16842_-3-16841insATTATATATATATATATATATATTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(18): Show ATATTATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	262	0.0038	25	c.-3- others(42): Show c.-3-16842_-3-16841insATTATATATATATATATATATTTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18965.hp1 NA19062.hp1 HG02976.hp1 NA18965.hp1 NA19062.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0004 a0003c0013 a0004c0009 a0002c0004 a0003c0013 a0004c0009	a0002c0004t0008 a0003c0013t0003 a0004c0009t0001 a0002c0004t0008 a0003c0013t0003 a0004c0009t0001	a0002c0004t0008g0123 a0003c0013t0003g0197 a0004c0009t0001g0316 a0002c0004t0008g0123 a0003c0013t0003g0197 a0004c0009t0001g0316	3	362	0.0083	25	c.250 others(44): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	438	0.0023	25	c.-11 others(36): Show c.-1118_-1117insATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	438	0.0023	25	c.-11 others(36): Show c.-1118_-1117insAAAAAAATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0097 a0005c0004t0001g0097	1	438	0.0023	25	c.-11 others(36): Show c.-1118_-1117insAAAAAAAAAAAAAAATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATTT others(18): Show ATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	438	0.0023	25	c.-11 others(36): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATTTTT others(18): Show ATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0065 a0009c0012t0001g0065	1	438	0.0023	25	c.-11 others(36): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAAATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62825082	A A	AGGGAGGG others(18): Show AGGGAGGGGCTGGGCTCTGGCGGGGG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0002 a0008c0044t0002	a0008c0044t0002g0355 a0008c0044t0002g0355	1	412	0.0024	25	c.630 others(38): Show c.630+77_630+78insTGGCGGGGGGGGAGGGGCTGGGCTC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825106	A A	AGGGAGGG others(18): Show AGGGAGGGGCTGGGCTCCGGCGGGAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	412	0.0024	25	c.630 others(39): Show c.630+88_630+112dupGAGGGGCTGGGCTCCGGCGGGAGGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825174	C C	CGGGAGGG others(18): Show CGGGAGGGAGGGGCTGGGCTCCGGCG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0276 a0001c0003t0001g0276	1	412	0.0024	25	c.630 others(40): Show c.630+155_630+179dupGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19062.hp1 HG03834.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0244 a0001c0001t0002g0090 a0001c0001t0002g0244	2	388	0.0052	25	c.148 others(42): Show c.148+2201_148+2202insAAAAAAATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	388	0.0026	25	c.148 others(42): Show c.148+2201_148+2202insAAAAATATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	388	0.0026	25	c.148 others(42): Show c.148+2201_148+2202insAAATATATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3590917	A A	AGTAGGGG others(18): Show AGTAGGGGCGGCGGGGCAGAGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	378	0.0027	25	c.-42 others(36): Show c.-4278_-4277insGTAGGGGCGGCGGGGCAGAGGCGCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4194		chr2	TogoVar
COLEC12_chr18_311737_505701	455053	C C	CCCCTCAC others(18): Show CCCCTCACCAGTAGAGCCACCCCCAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0122 a0003c0002t0122	a0003c0002t0122g0252 a0003c0002t0122g0252	1	366	0.0027	25	c.58+ others(42): Show c.58+25653_58+25654insATGGGGGTGGCTCTACTGGTGAGGG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977835	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	340	0.0029	25	c.374 others(40): Show c.374+574_374+575insCTCTCTCTCTCTCTCTCTCTCTCTC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	183997238	G G	GTATAGTA others(18): Show GTATAGTAAGACATTATAAATTGTTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0019 a0001c0002t0006g0019	1	340	0.0029	25	c.264 others(44): Show c.264-18743_264-18719dupTAACAATTTATAATGTCTTACTATA	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116111434	T T	TTTGCTGT others(18): Show TTTGCTGTGTCCTACAGGTTTTTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(106): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0005t0001	a0001c0001t0001g0087 a0001c0002t0001g0081 a0001c0002t0001g0083 others(106): Show a0001c0001t0001g0087 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0006g0134 a0001c0005t0001g0145	109	350	0.3114	25	c.399 others(44): Show c.399+18736_399+18760dupTGCTGTGTCCTACAGGTTTTTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	286	0.0035	25	c.462 others(44): Show c.462+62886_462+62887insTATATATATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2			chr2	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(18): Show TAGAGAGAGAGAGAGAGAGGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0318 a0001c0001t0003g0318	1	448	0.0022	25	c.44 others(36): Show c.4494_*4495insCTCTCTCCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18786763	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	398	0.0025	25	c.113 others(42): Show c.1136-138_1136-114dupAAAAAAAAAAAAAAAAAAAAAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	10/18			chr19	TogoVar
COPE_chr19_18894514_18924387	18902821	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0285 a0003c0004t0001g0285	1	330	0.0030	25	c.735 others(40): Show c.735+446_735+447insTCTTTCTTTCTTTCTTTCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG2_chr7_130501238_130673748	130545170	T T	TATTTCAT others(18): Show TATTTCATTTCATTTCATTTCATTTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0032 a0001c0002t0001g0033	2	326	0.0061	25	c.214 others(44): Show c.2149+2479_2149+2503dupGAAATGAAATGAAATGAAATGAAAT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPS7A_chr12_6719046_6736865	6733399	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0012	1	474	0.0021	25	c.23 others(36): Show c.2360_*2361insAAAAAAAAAAAAAAAAAAAAAAAAG	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1535		chr12	TogoVar
COPS8_chr2_237080889_237105474	237097224	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	348	0.0029	25	c.550 others(40): Show c.550+375_550+376insTTTTTTTTTTTTTTTTTTTTTTTTT	COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01361.hp1 HG01975.hp2 others(18): Show HG00741.hp2 HG01361.hp1 HG01975.hp2 HG02071.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG03017.hp2 HG03486.hp2 HG03491.hp1 HG03704.hp1 NA18612.hp1 NA18975.hp1 NA18989.hp1 NA19030.hp2 NA19055.hp1 NA19062.hp1 NA19062.hp2 NA19086.hp1 NA19087.hp2 NA20805.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0008c0007 a0002c0003 a0008c0007	a0002c0003t0002 a0008c0007t0002 a0002c0003t0002 a0008c0007t0002	a0002c0003t0002g0006 a0002c0003t0002g0016 a0002c0003t0002g0025 others(7): Show a0002c0003t0002g0006 a0002c0003t0002g0016 a0002c0003t0002g0025 a0002c0003t0002g0029 a0002c0003t0002g0046 a0002c0003t0002g0048 a0002c0003t0002g0051 a0002c0003t0002g0063 a0002c0003t0002g0069 a0008c0007t0002g0006	21	372	0.0565	25	c.576 others(40): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COTL1_chr16_84560596_84623078	84591823	C C	CAAATAAA others(18): Show CAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02280.hp1 others(7): Show HG01109.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02970.hp2 HG03041.hp1 HG03209.hp1 HG03540.hp2 NA18906.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0142 others(7): Show a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0142 a0001c0001t0001g0179 a0001c0001t0001g0252 a0001c0001t0003g0023 a0001c0001t0003g0227 a0001c0001t0003g0241 a0001c0001t0009g0012 a0001c0001t0012g0246	10	440	0.0227	25	c.161 others(42): Show c.161-1586_161-1562dupTATTTTATTTTATTTTATTTTATTT	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
COX14_chr12_50107236_50125453	50112907	C C	CGTTATGT others(18): Show CGTTATGTTATGTTATGTTATGTTAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18981.hp1 NA19070.hp2 NA18961.hp2 NA18981.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0057 a0001c0001t0001g0025 a0001c0001t0001g0057	3	418	0.0072	25	c.-9+ others(38): Show c.-9+622_-9+646dupGTTATGTTATGTTATGTTATGTTAT	COX14	ENSG00000178449.9	transcript	ENST00000550487.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	384	0.0026	25	c.434 others(40): Show c.434+164_434+165insATATATATATATATATATATATTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01928.hp1 NA19079.hp2 others(2): Show HG01192.hp1 HG01928.hp1 NA19079.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0024 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0024	5	406	0.0123	25	c.-30 others(36): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46759777	T T	TTATCTTA others(18): Show TTATCTTATATAAGTTATATAAGTCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02622.hp1 HG02647.hp1 HG00544.hp1 HG02622.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0019 a0001c0001t0006g0106 a0001c0001t0006g0172 a0001c0001t0002g0019 a0001c0001t0006g0106 a0001c0001t0006g0172	3	300	0.0100	25	c.-49 others(44): Show c.-49-24561_-49-24537dupTGACTTATATAACTTATATAAGATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPA6_chr8_67417038_67751360	67716151	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG01891.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0075 a0001c0001t0001g0011 a0001c0001t0001g0075	2	144	0.0139	25	c.116 others(44): Show c.116+29838_116+29862dupTTTTTTTTTTTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16926304	C C	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02647.hp2 others(2): Show HG02486.hp2 HG02647.hp1 HG02647.hp2 HG03579.hp2 NA20129.hp2	a0017 a0028 a0088 others(2): Show a0017 a0028 a0088 a0099 a0117	a0017c0147 a0028c0182 a0088c0047 others(2): Show a0017c0147 a0028c0182 a0088c0047 a0099c0054 a0117c0110	a0017c0147t0001 a0028c0182t0001 a0088c0047t0001 others(2): Show a0017c0147t0001 a0028c0182t0001 a0088c0047t0001 a0099c0054t0001 a0117c0110t0001	a0017c0147t0001g0009 a0028c0182t0001g0062 a0088c0047t0001g0161 others(2): Show a0017c0147t0001g0009 a0028c0182t0001g0062 a0088c0047t0001g0161 a0099c0054t0001g0003 a0117c0110t0001g0055	5	278	0.0180	25	c.337 others(42): Show c.3371-957_3371-933dupATAAAATAAAATAAAATAAAATAAA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	25/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17013512	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00609.hp1 others(98): Show HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01109.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02300.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp2 NA18906.hp2 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18979.hp1 NA18992.hp1 NA18992.hp2 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp2 NA19088.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(64): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0024 a0025 a0026 a0027 a0029 a0031 a0032 a0034 a0036 a0038 a0040 a0043 a0044 a0046 a0049 a0050 a0051 a0052 a0053 a0055 a0056 a0057 a0058 a0061 a0065 a0066 a0077 a0082 a0083 a0084 a0085 a0088 a0093 a0094 a0102 a0104 a0106 a0107 a0110 a0115 a0117 a0118 a0119 a0120 a0122 a0123 a0124	a0001c0001 a0001c0007 a0001c0013 others(77): Show a0001c0001 a0001c0007 a0001c0013 a0002c0018 a0002c0019 a0002c0176 a0003c0002 a0003c0045 a0004c0005 a0004c0180 a0005c0003 a0006c0006 a0006c0015 a0006c0132 a0007c0170 a0008c0009 a0009c0010 a0009c0042 a0010c0004 a0011c0012 a0012c0028 a0012c0029 a0015c0008 a0016c0116 a0016c0117 a0017c0044 a0018c0038 a0018c0155 a0019c0146 a0020c0011 a0021c0037 a0021c0143 a0022c0032 a0024c0030 a0025c0020 a0026c0127 a0027c0035 a0029c0067 a0031c0041 a0032c0043 a0034c0070 a0036c0025 a0038c0099 a0040c0074 a0043c0022 a0044c0021 a0046c0036 a0049c0154 a0050c0148 a0051c0153 a0052c0152 a0053c0149 a0055c0145 a0056c0072 a0057c0073 a0058c0158 a0061c0142 a0065c0101 a0066c0103 a0077c0087 a0082c0165 a0083c0112 a0084c0111 a0085c0063 a0088c0047 a0093c0177 a0094c0060 a0102c0130 a0104c0133 a0106c0134 a0107c0122 a0110c0115 a0115c0123 a0117c0110 a0118c0139 a0119c0140 a0120c0164 a0122c0162 a0123c0048 a0124c0186	a0001c0001t0002 a0001c0007t0002 a0001c0013t0001 others(78): Show a0001c0001t0002 a0001c0007t0002 a0001c0013t0001 a0002c0018t0001 a0002c0019t0001 a0002c0176t0001 a0003c0002t0002 a0003c0045t0002 a0004c0005t0002 a0004c0180t0001 a0005c0003t0002 a0006c0006t0001 a0006c0015t0002 a0006c0132t0002 a0007c0170t0002 a0008c0009t0001 a0009c0010t0002 a0009c0042t0001 a0010c0004t0001 a0011c0012t0002 a0012c0028t0002 a0012c0029t0001 a0015c0008t0001 a0015c0008t0004 a0016c0116t0001 a0016c0117t0001 a0017c0044t0001 a0018c0038t0002 a0018c0155t0002 a0019c0146t0001 a0020c0011t0001 a0021c0037t0002 a0021c0143t0001 a0022c0032t0001 a0024c0030t0001 a0025c0020t0001 a0026c0127t0001 a0027c0035t0001 a0029c0067t0001 a0031c0041t0001 a0032c0043t0001 a0034c0070t0002 a0036c0025t0002 a0038c0099t0002 a0040c0074t0002 a0043c0022t0001 a0044c0021t0002 a0046c0036t0001 a0049c0154t0001 a0050c0148t0002 a0051c0153t0001 a0052c0152t0002 a0053c0149t0001 a0055c0145t0001 a0056c0072t0001 a0057c0073t0001 a0058c0158t0001 a0061c0142t0002 a0065c0101t0001 a0066c0103t0002 a0077c0087t0001 a0082c0165t0002 a0083c0112t0001 a0084c0111t0001 a0085c0063t0001 a0088c0047t0001 a0093c0177t0001 a0094c0060t0001 a0102c0130t0002 a0104c0133t0002 a0106c0134t0001 a0107c0122t0001 a0110c0115t0001 a0115c0123t0001 a0117c0110t0001 a0118c0139t0001 a0119c0140t0002 a0120c0164t0001 a0122c0162t0001 a0123c0048t0001 a0124c0186t0001	a0001c0001t0002g0048 a0001c0001t0002g0219 a0001c0007t0002g0053 others(98): Show a0001c0001t0002g0048 a0001c0001t0002g0219 a0001c0007t0002g0053 a0001c0013t0001g0090 a0001c0013t0001g0138 a0002c0018t0001g0099 a0002c0019t0001g0008 a0002c0176t0001g0014 a0003c0002t0002g0186 a0003c0002t0002g0196 a0003c0002t0002g0213 a0003c0045t0002g0052 a0003c0045t0002g0218 a0004c0005t0002g0211 a0004c0180t0001g0041 a0005c0003t0002g0236 a0005c0003t0002g0239 a0006c0006t0001g0086 a0006c0006t0001g0205 a0006c0006t0001g0220 a0006c0015t0002g0110 a0006c0132t0002g0087 a0007c0170t0002g0117 a0008c0009t0001g0197 a0008c0009t0001g0217 a0009c0010t0002g0078 a0009c0010t0002g0208 a0009c0010t0002g0209 a0009c0042t0001g0194 a0009c0042t0001g0206 a0010c0004t0001g0088 a0010c0004t0001g0089 a0011c0012t0002g0202 a0011c0012t0002g0207 a0011c0012t0002g0210 a0012c0028t0002g0073 a0012c0029t0001g0151 a0012c0029t0001g0152 a0015c0008t0001g0174 a0015c0008t0004g0278 a0016c0116t0001g0010 a0016c0117t0001g0114 a0017c0044t0001g0076 a0017c0044t0001g0077 a0018c0038t0002g0193 a0018c0155t0002g0215 a0019c0146t0001g0198 a0020c0011t0001g0017 a0020c0011t0001g0021 a0021c0037t0002g0190 a0021c0143t0001g0012 a0022c0032t0001g0228 a0022c0032t0001g0229 a0024c0030t0001g0173 a0025c0020t0001g0104 a0026c0127t0001g0240 a0027c0035t0001g0172 a0029c0067t0001g0004 a0031c0041t0001g0216 a0032c0043t0001g0191 a0034c0070t0002g0091 a0036c0025t0002g0189 a0038c0099t0002g0224 a0040c0074t0002g0212 a0043c0022t0001g0203 a0043c0022t0001g0232 a0044c0021t0002g0085 a0046c0036t0001g0204 a0049c0154t0001g0195 a0050c0148t0002g0235 a0051c0153t0001g0237 a0052c0152t0002g0029 a0053c0149t0001g0106 a0055c0145t0001g0093 a0056c0072t0001g0094 a0057c0073t0001g0066 a0058c0158t0001g0230 a0061c0142t0002g0015 a0065c0101t0001g0001 a0066c0103t0002g0022 a0077c0087t0001g0225 a0082c0165t0002g0214 a0083c0112t0001g0096 a0084c0111t0001g0097 a0085c0063t0001g0018 a0088c0047t0001g0161 a0093c0177t0001g0072 a0094c0060t0001g0262 a0102c0130t0002g0030 a0104c0133t0002g0241 a0106c0134t0001g0109 a0107c0122t0001g0023 a0110c0115t0001g0098 a0115c0123t0001g0226 a0117c0110t0001g0055 a0118c0139t0001g0108 a0119c0140t0002g0111 a0120c0164t0001g0013 a0122c0162t0001g0019 a0123c0048t0001g0011 a0124c0186t0001g0049	101	278	0.3633	25	c.268 others(42): Show c.268-1780_268-1756dupATTTTATTTTATTTTATTTTATTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	3/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148849012	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18985.hp2 NA19058.hp2 NA18980.hp1 NA18985.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0344	3	456	0.0066	25	c.981 others(42): Show c.981+3410_981+3411insTTTTTTTTTTTTTTTTTTTTTTTTT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPEB3_chr10_92041692_92296078	92095601	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0151 a0001c0001t0007g0151	1	278	0.0036	25	c.157 others(44): Show c.1573-3658_1573-3657insTATATATATATATATATATATATAT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	7/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAACAAGCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG03540.hp1 others(1): Show HG02451.hp2 HG02647.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0009 a0001c0001t0002 a0001c0007t0009	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0007t0009g0040	4	278	0.0144	25	c.145 others(44): Show c.1454-8905_1454-8904insTGCTTGTTTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121199693	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	140	0.0071	25	c.205 others(46): Show c.2056-37021_2056-37020insGAAAGAAAGAAAGAAAGAAAGAAA G	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22			chr7	TogoVar
CPED1_chr7_120983711_121302442	121256135	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0006 a0004c0013t0006	a0004c0013t0006g0035 a0004c0013t0006g0035	1	140	0.0071	25	c.231 others(46): Show c.2311-10086_2311-10085insAAAAAAAAAAAAAAAAAACAAAAA A	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(18): Show AAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02080.hp1 HG02717.hp2 others(7): Show HG01981.hp1 HG02080.hp1 HG02717.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2 NA18977.hp2 NA19063.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0162 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0162 a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0188 a0001c0001t0002g0295 a0001c0001t0002g0317 a0001c0001t0002g0318	10	332	0.0301	25	c.308 others(42): Show c.308-3203_308-3202insAAAAAAAAAGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX1_chr4_779957_831129	826404	C C	CGGGGGCG others(18): Show CGGGGGCGGGGGTGGACCCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	416	0.0024	25	c.-43 others(34): Show c.-439_-438insCGCCCCCGGGTCCACCCCCGCCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		276		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0015 a0001c0001t0064g0015	1	378	0.0027	25	c.-33 others(34): Show c.-338_-337insGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGGG others(18): Show AGAGAGGGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	25	c.-33 others(34): Show c.-338_-337insGAGAGGGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0002 a0001c0001t0075g0002	1	378	0.0027	25	c.-33 others(34): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar

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