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
COL5A1_chr9_134636803_134849843	134826719	GTGGTGTG others(33): Show GTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0025g0043 a0001c0003t0025g0218	2	272	0.0074	-40	c.506 others(57): Show c.5067+833_5067+872delCATGGTGTTCGGGTGTGTGTGGCTGGTG TGTGGGTGTGTA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	46002718	TGGGGCCA others(33): Show TGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03453.hp2 HG02559.hp1 HG03453.hp2	a0001 a0001	a0001c0012 a0001c0022 a0001c0012 a0001c0022	a0001c0012t0005 a0001c0022t0007 a0001c0012t0005 a0001c0022t0007	a0001c0012t0005g0073 a0001c0022t0007g0046 a0001c0012t0005g0073 a0001c0022t0007g0046	2	128	0.0156	-40	c.243 others(55): Show c.2434+15_2434+54delACCCGGGCAGTCCCAGATCTGCGTAGGTGC GCGCGGGGCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	46002755	GCGCGGGG others(33): Show GCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01981.hp2 HG03239.hp2 HG01361.hp1 HG01981.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0003t0003g0034 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0003t0003g0034	3	128	0.0234	-40	c.243 others(56): Show c.2434+99_2434+138delGGGCAGTCCCAGATCTGCGTAGGTGCACG CGGGGCCGCCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46125041	GAGGGCAA others(33): Show GAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCAC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0203 a0003c0007t0007g0203	1	372	0.0027	-40	c.177 others(57): Show c.1770+132_1770+171delCAGAGAGCAAGCTTGGTTGGGGAAGGTC ACAGGGCAAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46125041	GAGGGCAA others(33): Show GAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCAC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0199 a0003c0008t0003g0199	1	364	0.0028	-40	c.177 others(57): Show c.1770+132_1770+171delCAGAGAGCAAGCTTGGTTGGGGAAGGTC ACAGGGCAAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135765	TCCCTCCC others(33): Show TCCCTCCCAGCCTCCCCTCCCCAGCGTTCCCTCCCAGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	364	0.0028	-40	c.32 others(51): Show c.3214_*3253delCCCTCCCAGCCTCCCCTCCCCAGCGTTCCCTCCC AGCCTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2918		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02647.hp2 HG02809.hp1 others(2): Show HG02056.hp2 HG02647.hp2 HG02809.hp1 HG03516.hp2 NA19030.hp1	a0005 a0009 a0013 others(1): Show a0005 a0009 a0013 a0020	a0005c0101 a0009c0124 a0009c0126 others(2): Show a0005c0101 a0009c0124 a0009c0126 a0013c0097 a0020c0127	a0005c0101t0003 a0009c0124t0003 a0009c0126t0004 others(2): Show a0005c0101t0003 a0009c0124t0003 a0009c0126t0004 a0013c0097t0002 a0020c0127t0004	a0005c0101t0003g0238 a0009c0124t0003g0113 a0009c0126t0004g0179 others(2): Show a0005c0101t0003g0238 a0009c0124t0003g0113 a0009c0126t0004g0179 a0013c0097t0002g0107 a0020c0127t0004g0211	5	322	0.0155	-40	c.766 others(57): Show c.7668+796_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343537	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01346.hp2 HG01496.hp2 others(21): Show HG00642.hp2 HG01346.hp2 HG01496.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02622.hp1 HG02735.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG04228.hp1 NA18522.hp1 NA18941.hp1 NA18981.hp1 NA18986.hp2 NA18989.hp2 NA19004.hp2 NA19007.hp2 NA19087.hp1 NA19088.hp2 NA20905.hp2	a0003 a0009 a0017 others(3): Show a0003 a0009 a0017 a0024 a0027 a0059	a0003c0005 a0003c0015 a0003c0027 others(9): Show a0003c0005 a0003c0015 a0003c0027 a0003c0075 a0003c0093 a0003c0118 a0003c0122 a0009c0041 a0017c0024 a0024c0038 a0027c0023 a0059c0055	a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 others(12): Show a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0015t0001 a0003c0015t0003 a0003c0027t0003 a0003c0075t0001 a0003c0093t0001 a0003c0118t0002 a0003c0122t0002 a0009c0041t0002 a0017c0024t0001 a0024c0038t0002 a0027c0023t0001 a0059c0055t0004	a0003c0005t0001g0018 a0003c0005t0001g0019 a0003c0005t0002g0077 others(21): Show a0003c0005t0001g0018 a0003c0005t0001g0019 a0003c0005t0002g0077 a0003c0005t0002g0080 a0003c0005t0003g0059 a0003c0005t0003g0060 a0003c0005t0003g0156 a0003c0015t0001g0272 a0003c0015t0003g0084 a0003c0015t0003g0199 a0003c0015t0003g0209 a0003c0027t0003g0119 a0003c0075t0001g0192 a0003c0093t0001g0250 a0003c0118t0002g0061 a0003c0122t0002g0078 a0009c0041t0002g0236 a0009c0041t0002g0303 a0017c0024t0001g0055 a0024c0038t0002g0110 a0024c0038t0002g0111 a0027c0023t0001g0124 a0027c0023t0001g0125 a0059c0055t0004g0162	24	322	0.0745	-40	c.766 others(57): Show c.7668+773_7668+812delGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COLEC11_chr2_3590112_3649644	3615978	TGGAGGGG others(33): Show TGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0356 a0003c0009t0001g0356	1	378	0.0027	-40	c.202 others(57): Show c.202+2612_202+2651delTTCTCAGACGGGGCGGCTGCCCGGCGGA GGGGCTCCTCAC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD10_chr5_116080025_116298287	116129566	GTATATAT others(33): Show GTATATATATACTATATACTAATGTAATATACATTAGTATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG01891.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0322 a0001c0001t0001g0323	2	350	0.0057	-40	c.400 others(57): Show c.400-4495_400-4456delTATACTATATACTAATGTAATATACATT AGTATATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COP1_chr1_175939831_176212286	176057980	GGCCGCCC others(33): Show GGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00642.hp2 others(79): Show HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01891.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0004c0005t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(79): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0261 a0001c0001t0007g0002 a0001c0001t0009g0059 a0001c0001t0010g0098 a0004c0005t0001g0031	82	300	0.2733	-40	c.127 others(61): Show c.1278-11696_1278-11657delTGCCGGGCGGAGGGGCTCCTCACC TCTCAGACGGGGCGGC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	11/19			chr1	TogoVar
COPG2_chr7_130501238_130673748	130590910	GTCTGAGA others(33): Show GTCTGAGAAGTGAGAAGCCCCTCTGCCCGGCAGCCACACCA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0114 a0003c0008t0001g0114	1	326	0.0031	-40	c.737 others(59): Show c.737+20003_737+20042delTGGTGTGGCTGCCGGGCAGAGGGGCT TCTCACTTCTCAGA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COQ8A_chr1_226935294_226992544	226944710	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG04115.hp2 HG02976.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0002c0012t0003 a0001c0001t0001 a0002c0012t0003	a0001c0001t0001g0189 a0002c0012t0003g0190 a0001c0001t0001g0189 a0002c0012t0003g0190	2	412	0.0049	-40	c.-10 others(57): Show c.-10+4325_-10+4364delAGAGAGAGAGAGAGAGAGAGAGAGAGTG AGAGAGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226944724	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02818.hp1 others(9): Show HG02257.hp1 HG02622.hp1 HG02818.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp2 NA18906.hp2 NA19043.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0016 a0001c0020 others(2): Show a0001c0001 a0001c0016 a0001c0020 a0003c0005 a0008c0014	a0001c0001t0002 a0001c0016t0001 a0001c0020t0003 others(2): Show a0001c0001t0002 a0001c0016t0001 a0001c0020t0003 a0003c0005t0005 a0008c0014t0001	a0001c0001t0002g0027 a0001c0001t0002g0362 a0001c0001t0002g0363 others(8): Show a0001c0001t0002g0027 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0368 a0001c0016t0001g0361 a0001c0020t0003g0357 a0003c0005t0005g0370 a0008c0014t0001g0367	12	412	0.0291	-40	c.-10 others(57): Show c.-10+4339_-10+4378delAGAGAGAGAGAGTGAGAGAGAGAGAGTG AGAGAGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226976177	GGGCTGCG others(33): Show GGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	412	0.0024	-40	c.656 others(57): Show c.656-1262_656-1223delACTGCGGGGCTGTGGGACTGCGATGTTG CCTGGCTGCGGG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COX17_chr3_119664532_119682406	119674064	CGTCTGGG others(33): Show CGTCTGGGATGTGAGGAGCGCCTCTGCCCAGCTGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	420	0.0024	-40	c.4+ others(55): Show c.4+1041_*4+1080delAGGGCGGCAGCTGGGCAGAGGCGCTCCTCA CATCCCAGAC	COX17	ENSG00000138495.7	transcript	ENST00000261070.7	protein_coding	2/2			chr3	TogoVar
COX4I1_chr16_85794695_85812068	85808223	CGGCTGCT others(33): Show CGGCTGCTGGGCGGAGATGCTCCTCACTTCCCAGACGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0005t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0004t0001g0023 a0001c0004t0001g0040 a0001c0005t0001g0001 a0002c0006t0001g0090	203	432	0.4699	-40	c.13 others(51): Show c.1350_*1389delGGCTGCTGGGCGGAGATGCTCCTCACTTCCCAGA CGGGGT	COX4I1	ENSG00000131143.10	transcript	ENST00000253452.8	protein_coding		1156		chr16	TogoVar
CPA6_chr8_67417038_67751360	67648259	TTTTTTTT others(33): Show TTTTTTTTTTTTTTTTTTTTGCTAGACCTTCTCTTTTCTTA	T T	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	144	0.0069	-40	c.117 others(59): Show c.117-24048_117-24009delTAAGAAAAGAGAAGGTCTAGCAAAAA AAAAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPLX1_chr4_779957_831129	820119	TCCAGCTC others(33): Show TCCAGCTCAGCCCAGCCTGCAGCTCCACCGTCCTCCCGGAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0268 a0001c0001t0009g0268	1	416	0.0024	-40	c.31+ others(55): Show c.31+4333_31+4372delGTCCGGGAGGACGGTGGAGCTGCAGGCTGG GCTGAGCTGG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	2/3			chr4	TogoVar
CPNE7_chr16_89570758_89602246	89570771	CAGGTGAG others(33): Show CAGGTGAGCAGGCACGGGAGGAGGTGAGCGGGCACGGGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00621.hp2 others(36): Show HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01943.hp2 HG01975.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02602.hp1 HG02717.hp2 HG02922.hp2 HG03017.hp1 HG03139.hp2 HG03516.hp1 HG03579.hp2 HG03927.hp2 HG04228.hp2 NA18950.hp2 NA18979.hp2 NA18980.hp1 NA18994.hp1 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19064.hp2 NA19065.hp1 NA19084.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0015 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0005t0002 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0015t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0007 a0002c0004t0002 a0002c0004t0014	a0001c0001t0001g0174 a0001c0001t0001g0318 a0001c0002t0001g0331 others(33): Show a0001c0001t0001g0174 a0001c0001t0001g0318 a0001c0002t0001g0331 a0001c0002t0002g0316 a0001c0002t0003g0143 a0001c0002t0003g0313 a0001c0002t0004g0327 a0001c0002t0010g0219 a0001c0005t0002g0072 a0001c0005t0002g0302 a0001c0005t0002g0303 a0001c0005t0002g0310 a0001c0005t0002g0323 a0001c0008t0001g0009 a0001c0008t0002g0010 a0001c0008t0002g0015 a0001c0009t0001g0061 a0001c0015t0001g0330 a0002c0003t0002g0312 a0002c0003t0004g0306 a0002c0003t0007g0298 a0002c0004t0002g0001 a0002c0004t0002g0016 a0002c0004t0002g0279 a0002c0004t0002g0301 a0002c0004t0002g0304 a0002c0004t0002g0307 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0311 a0002c0004t0002g0314 a0002c0004t0002g0315 a0002c0004t0002g0319 a0002c0004t0002g0324 a0002c0004t0002g0332 a0002c0004t0014g0305	39	348	0.1121	-40	c.-51 others(51): Show c.-5126_-5087delAGGTGAGCAGGCACGGGAGGAGGTGAGCGGGCAC GGGAGG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4986		chr16	TogoVar
CPQ_chr8_96640242_97148501	96717024	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp2 HG03453.hp1 others(1): Show HG02647.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0002t0001g0098 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0002t0001g0098 a0002c0003t0001g0015	4	126	0.0318	-40	c.-34 others(59): Show c.-34-67826_-34-67787delTATATATATATATATATATATATATA TATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96880518	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	126	0.0079	-40	c.849 others(55): Show c.849+533_849+572delTATATATATATATATATATATATATATATA TATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF1_chr8_144388231_144414335	144397048	TGGGAAGG others(33): Show TGGGAAGGGGCGGGGCTGTGAGGGAGATGGGGTGGAGCCAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	350	0.0029	-40	c.259 others(57): Show c.2592+119_2593-120delGTGGCTCCACCCCATCTCCCTCACAGCC CCGCCCCTTCCC	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	23/37			chr8	TogoVar
CPSF1_chr8_144388231_144414335	144397068	AGGGAGAT others(33): Show AGGGAGATGGGGTGGAGCCACGGGAAGGGGCGGGGCCGTGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0166 a0001c0005t0001g0166	1	350	0.0029	-40	c.259 others(56): Show c.2592+99_2592+138delCCACGGCCCCGCCCCTTCCCGTGGCTCCA CCCCATCTCCC	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	23/37			chr8	TogoVar
CPVL_chr7_28990235_29151537	29069770	ATGTGTGT others(33): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0130 a0004c0008t0001g0130	1	282	0.0036	-40	c.864 others(57): Show c.864+1963_864+2002delCACACACACACACACACACACACACACA CACACACACACA	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	9/12			chr7	TogoVar
CR1_chr1_207491157_207646765	207515141	GTATACGT others(33): Show GTATACGTATATATACATATACATATATAGGTATATACATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02572.hp1 others(17): Show HG01891.hp1 HG02258.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 NA18906.hp2 NA19043.hp1	a0011 a0013 a0015 others(4): Show a0011 a0013 a0015 a0025 a0026 a0029 a0050	a0011c0010 a0013c0012 a0015c0057 others(4): Show a0011c0010 a0013c0012 a0015c0057 a0025c0025 a0026c0027 a0029c0026 a0050c0052	a0011c0010t0002 a0011c0010t0005 a0013c0012t0001 others(6): Show a0011c0010t0002 a0011c0010t0005 a0013c0012t0001 a0013c0012t0019 a0015c0057t0002 a0025c0025t0001 a0026c0027t0002 a0029c0026t0001 a0050c0052t0001	a0011c0010t0002g0135 a0011c0010t0002g0136 a0011c0010t0002g0137 others(17): Show a0011c0010t0002g0135 a0011c0010t0002g0136 a0011c0010t0002g0137 a0011c0010t0002g0138 a0011c0010t0002g0181 a0011c0010t0005g0032 a0011c0010t0005g0033 a0013c0012t0001g0015 a0013c0012t0001g0019 a0013c0012t0001g0021 a0013c0012t0001g0028 a0013c0012t0019g0024 a0015c0057t0002g0034 a0025c0025t0001g0017 a0025c0025t0001g0018 a0026c0027t0002g0026 a0026c0027t0002g0027 a0029c0026t0001g0013 a0029c0026t0001g0014 a0050c0052t0001g0073	20	360	0.0556	-40	c.487 others(57): Show c.487+3532_487+3571delCGTATATATACATATACATATATAGGTA TATACATATATA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	4/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207612863	CCATGACC others(33): Show CCATGACCCCAAAGCCCAGAGGAGGTGTTACAGCACACTAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0002 a0019c0019t0002	a0019c0019t0002g0189 a0019c0019t0002g0189	1	360	0.0028	-40	c.657 others(57): Show c.6575+823_6575+862delCATGACCCCAAAGCCCAGAGGAGGTGTT ACAGCACACTAA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	39/46			chr1	TogoVar
CREB3L2_chr7_137869979_138007086	137922398	ATATATAT others(33): Show ATATATATATATATATATGTATATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02723.hp2 HG02896.hp1 others(6): Show HG00741.hp2 HG02723.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 NA18906.hp1 NA18968.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0006 a0001c0004 a0002c0002 a0002c0006	a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 others(6): Show a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0004t0016 a0001c0004t0021 a0002c0002t0003 a0002c0006t0017 a0002c0006t0023 a0002c0006t0025	a0001c0004t0001g0100 a0001c0004t0003g0102 a0001c0004t0010g0278 others(6): Show a0001c0004t0001g0100 a0001c0004t0003g0102 a0001c0004t0010g0278 a0001c0004t0016g0157 a0001c0004t0021g0158 a0002c0002t0003g0179 a0002c0006t0017g0020 a0002c0006t0023g0219 a0002c0006t0025g0168	9	288	0.0313	-40	c.319 others(57): Show c.319+5712_319+5751delCGTATATATATATATATATATACATATA TATATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L3_chr19_4148631_4178054	4164409	GGGGTGAT others(33): Show GGGGTGATAGTGTTTTCGATCTGATACCTCTTTCATTTCCT	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0278 a0006c0009t0001g0278	1	404	0.0025	-40	c.577 others(53): Show c.577-92_577-53delGGTGATAGTGTTTTCGATCTGATACCTCTTTC ATTTCCTG	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREBL2_chr12_12606876_12650108	12618186	CTCCCAGA others(33): Show CTCCCAGACGGGGCGGCTGCCGGGCGGAGACGCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02809.hp1 others(2): Show HG02055.hp1 HG02451.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0218 others(2): Show a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0015g0176 a0001c0001t0015g0177	5	372	0.0134	-40	c.15+ others(55): Show c.15+6068_15+6107delACGCTCCTCACTTCCCAGACGGGGCGGCTG CCGGGCGGAG	CREBL2	ENSG00000111269.3	transcript	ENST00000228865.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
CRIP2_chr14_105469821_105485162	105475474	TCCCGACG others(33): Show TCCCGACGCATTCCCTTGGCGCCAGTTCCCCCAGGAGTTTC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	316	0.0032	-40	c.43+ others(53): Show c.43+570_43+609delCCCGACGCATTCCCTTGGCGCCAGTTCCCCCA GGAGTTTC	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding	1/7			chr14	TogoVar
CRIP2_chr14_105469821_105485162	105476021	GACCGGAT others(33): Show GACCGGATTTGGCCTGGAGTGCTTCTGGCGTGGCTGGGAGC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	316	0.0032	-40	c.43+ others(55): Show c.43+1117_43+1156delACCGGATTTGGCCTGGAGTGCTTCTGGCGT GGCTGGGAGC	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding	1/7			chr14	TogoVar
CRYBG1_chr6_106355717_106577017	106433733	ATACATAT others(33): Show ATACATATATATGTATATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19003.hp1 NA19066.hp2 HG02615.hp2 NA19003.hp1 NA19066.hp2	a0005 a0011 a0052 a0005 a0011 a0052	a0005c0006 a0011c0014 a0052c0030 a0005c0006 a0011c0014 a0052c0030	a0005c0006t0003 a0011c0014t0001 a0052c0030t0003 a0005c0006t0003 a0011c0014t0001 a0052c0030t0003	a0005c0006t0003g0004 a0011c0014t0001g0034 a0052c0030t0003g0246 a0005c0006t0003g0004 a0011c0014t0001g0034 a0052c0030t0003g0246	3	272	0.0110	-40	c.174 others(59): Show c.174-17958_174-17919delCATATATATGTATATATATATGTGTA TATATATATATGTA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSDC2_chr22_41556010_41581666	41572367	CCCACCCA others(33): Show CCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00673.hp1 others(11): Show HG00408.hp1 HG00423.hp1 HG00673.hp1 HG01109.hp1 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02723.hp1 HG02976.hp2 NA18975.hp1 NA18994.hp2 NA19000.hp2 NA19088.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0015 a0001c0001t0035 others(2): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0035 a0001c0001t0044 a0001c0002t0007	a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0089 others(5): Show a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0089 a0001c0001t0015g0019 a0001c0001t0015g0023 a0001c0001t0035g0199 a0001c0001t0044g0083 a0001c0002t0007g0117	14	288	0.0486	-40	c.176 others(55): Show c.176+230_176+269delCCCACCCACCCACCCACCCATCCATCCATC CATCCATCCA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSF2RA_chrX_1263814_1314935	1307371	TAGATGAG others(33): Show TAGATGAGGCCCACCATTCCCCTTTAGACCTTCGACTGATC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0058 a0001c0002t0004g0058	1	159	0.0063	-40	c.112 others(59): Show c.1125+1851_1125+1890delGGCCCACCATTCCCCTTTAGACCTTC GACTGATCAGATGA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1307386	ATTCCCCT others(33): Show ATTCCCCTTTAGACCTTCGACTGATCAGATGAAGCCCACCC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp2 NA20129.hp2 others(1): Show HG02922.hp1 HG03041.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0019 a0001c0001 a0001c0007 a0002c0019	a0001c0001t0002 a0001c0007t0002 a0002c0019t0002 a0001c0001t0002 a0001c0007t0002 a0002c0019t0002	a0001c0001t0002g0061 a0001c0001t0002g0105 a0001c0007t0002g0128 others(1): Show a0001c0001t0002g0061 a0001c0001t0002g0105 a0001c0007t0002g0128 a0002c0019t0002g0006	4	159	0.0252	-40	c.112 others(59): Show c.1125+1877_1125+1916delGACTGATCAGATGAAGCCCACCCTTC CCCTTTAGACCTTC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666781	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20805.hp2 HG02258.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0009 a0002c0003t0005 a0002c0003t0009	a0002c0003t0005g0190 a0002c0003t0009g0168 a0002c0003t0005g0190 a0002c0003t0009g0168	2	238	0.0084	-40	c.-39 others(61): Show c.-391-64956_-391-64917delCTCTCTCTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666943	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0030 a0009c0020t0030	a0009c0020t0030g0182 a0009c0020t0030g0182	1	238	0.0042	-40	c.-39 others(61): Show c.-391-65118_-391-65079delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH2_chr17_63867016_63878677	63875552	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0019 a0004c0010t0001g0019	1	410	0.0024	-40	c.-19 others(51): Show c.-1978_-1939delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding		1876		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3026434	GCCTCACT others(33): Show GCCTCACTGGGCCTGACTGGACCTCAGTGGACTTCACTGGA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04228.hp1 HG03710.hp2 HG04228.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0022c0013 a0001c0001 a0022c0013	a0001c0001t0002 a0022c0013t0007 a0001c0001t0002 a0022c0013t0007	a0001c0001t0002g0125 a0022c0013t0007g0112 a0001c0001t0002g0125 a0022c0013t0007g0112	2	126	0.0159	-40	c.785 others(59): Show c.7855+2845_7855+2884delTCCAGTGAAGTCCACTGAGGTCCAGT CAGGCCCAGTGAGG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	51/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671485	ATATATAT others(33): Show ATATATATGATCATATATATATATATATGATCATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0077 a0001c0025t0003g0077	1	126	0.0079	-40	c.100 others(61): Show c.1009+36889_1009+36928delCATATATATGATCATATATATATA TATATGATCATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795330	TCTATCAT others(33): Show TCTATCATGTAGATATAGATATATATCTATCATGTATATAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0070 a0001c0005t0007g0070	1	126	0.0079	-40	c.819 others(59): Show c.819-41328_819-41289delCTATATACATGATAGATATATATCTA TATCTACATGATAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4184867	GTGGGTGG others(33): Show GTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03139.hp1 HG01884.hp2 HG02451.hp2 HG03139.hp1	a0002 a0029 a0002 a0029	a0002c0022 a0002c0074 a0029c0028 a0002c0022 a0002c0074 a0029c0028	a0002c0022t0036 a0002c0074t0041 a0029c0028t0024 a0002c0022t0036 a0002c0074t0041 a0029c0028t0024	a0002c0022t0036g0048 a0002c0074t0041g0031 a0029c0028t0024g0040 a0002c0022t0036g0048 a0002c0074t0041g0031 a0029c0028t0024g0040	3	126	0.0238	-40	c.416 others(61): Show c.416-152808_416-152769delGAGGCTGGTCTTGAACTCCTGACC TCAGGTGATCCACCCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920902	AAAAGAAA others(33): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG03130.hp2 others(1): Show HG02280.hp2 HG02451.hp1 HG03130.hp2 NA19090.hp2	a0002 a0003 a0018 a0002 a0003 a0018	a0002c0051 a0002c0092 a0003c0034 others(1): Show a0002c0051 a0002c0092 a0003c0034 a0018c0044	a0002c0051t0006 a0002c0092t0001 a0003c0034t0030 others(1): Show a0002c0051t0006 a0002c0092t0001 a0003c0034t0030 a0018c0044t0064	a0002c0051t0006g0081 a0002c0092t0001g0011 a0003c0034t0030g0038 others(1): Show a0002c0051t0006g0081 a0002c0092t0001g0011 a0003c0034t0030g0038 a0018c0044t0064g0085	4	126	0.0318	-40	c.85+ others(57): Show c.85+73390_85+73429delCTTTCTTTCTCTCTTTCTTTTCTTTTCT TTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33509408	GGAGGGGC others(33): Show GGAGGGGCTCCTCACTTCTCAGACGGGGCAGCTGCTGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0017 a0017	a0017c0052 a0017c0052	a0017c0052t0003 a0017c0052t0003	a0017c0052t0003g0040 a0017c0052t0003g0040	1	66	0.0152	-40	c.71 others(51): Show c.7176_*7215delTGCCCAGCAGCTGCCCCGTCTGAGAAGTGAGGAG CCCCTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		4589		chr1	TogoVar
CSNK1A1_chr5_149487982_149556439	149542632	ATATATAT others(33): Show ATATATATGTATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	390	0.0026	-40	c.230 others(57): Show c.230+7403_230+7442delCATATATATATATATATATATATATATA TATACATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G2_chr19_1936172_1986338	1968145	CCCAGGCT others(33): Show CCCAGGCTGTCCCTGACCACCCTTCAGTTCTGCAGGTGGGG	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19083.hp2 NA19068.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0074 a0001c0001t0001g0076	2	382	0.0052	-40	c.-26 others(59): Show c.-265-1361_-265-1322delCAGGCTGTCCCTGACCACCCTTCAGT TCTGCAGGTGGGGC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSRP3_chr11_19177030_19206983	19197356	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00738.hp1 others(48): Show HG00280.hp2 HG00438.hp1 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01346.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG02165.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02698.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 NA18940.hp1 NA18941.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18965.hp1 NA18966.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19081.hp1 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(42): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0004t0001g0137	51	416	0.1226	-40	c.-29 others(57): Show c.-29+4558_-29+4597delAAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197360	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	416	0.0024	-40	c.-29 others(57): Show c.-29+4554_-29+4593delAAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197364	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(86): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp2 HG01070.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG04184.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18953.hp1 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18975.hp1 NA18983.hp1 NA18985.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19005.hp2 NA19011.hp1 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19078.hp2 NA19083.hp2 NA19089.hp2 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(74): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0073 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0005g0253 a0001c0001t0007g0160 a0001c0004t0001g0148 a0001c0004t0001g0220 a0001c0004t0001g0225 a0001c0004t0001g0247	89	416	0.2139	-40	c.-29 others(57): Show c.-29+4550_-29+4589delAAGGAAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar

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