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
CASK_chrX_41509934_41928554	41861715	GTGTATAT others(29): Show GTGTATATATACACATATATAATGTATATATATTACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	164	0.0061	-36	c.60- others(51): Show c.60-8524_60-8489delTGTAATATATATACATTATATATGTGTATA TATACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP5_chr11_104989243_105028168	105009730	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0229 a0009c0009t0001g0229	1	396	0.0025	-36	c.8-7 others(47): Show c.8-786_8-751delGTGTGTGTATATATATATATATATATATATATAT AT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP6_chr4_109683628_109708445	109705983	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02647.hp1 others(3): Show HG02280.hp1 HG02559.hp2 HG02647.hp1 HG03041.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0007 a0001c0001t0001g0060	6	416	0.0144	-36	c.-26 others(47): Show c.-2624_-2589delATATATATATATATATATTTTTTTTTTTTTTTTT TT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2539		chr4	TogoVar
CASP8_chr2_201255536_201292709	201277425	TTTGCTCA others(29): Show TTTGCTCAGCCAAATTAAGCTAAGATCAAGAACTTAC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	386	0.0026	-36	c.802 others(51): Show c.802+458_802+493delTTGCTCAGCCAAATTAAGCTAAGATCAAGA ACTTAC	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8			chr2	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18945.hp2 NA19003.hp2 HG02055.hp1 NA18945.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0086	3	206	0.0146	-36	c.103 others(55): Show c.1030-3120_1030-3085delTATATATATATATATATATATATATA TATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116555506	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02602.hp2 HG02615.hp1 others(3): Show HG02080.hp2 HG02602.hp2 HG02615.hp1 HG03471.hp1 NA18906.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0255 others(3): Show a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0255 a0001c0002t0001g0071 a0001c0002t0001g0270 a0001c0002t0001g0274	6	342	0.0175	-36	c.196 others(53): Show c.196-3424_196-3389delGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp2 HG01496.hp1 others(18): Show HG01070.hp2 HG01109.hp2 HG01496.hp1 HG01952.hp1 HG01981.hp1 HG02155.hp2 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02809.hp1 NA18522.hp1 NA18944.hp2 NA18975.hp2 NA18979.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010	a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 others(5): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0001c0001t0031 a0001c0001t0032 a0001c0002t0027 a0001c0006t0007 a0001c0010t0028	a0001c0001t0004g0027 a0001c0001t0004g0037 a0001c0001t0004g0038 others(18): Show a0001c0001t0004g0027 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0015g0014 a0001c0001t0015g0015 a0001c0001t0015g0016 a0001c0001t0031g0068 a0001c0001t0032g0070 a0001c0002t0027g0213 a0001c0006t0007g0282 a0001c0010t0028g0132	21	298	0.0705	-36	c.148 others(53): Show c.1489-565_1489-530delTATATATATATATATATATATATATATA TATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88929625	ATCCACGC others(29): Show ATCCACGCAAAAACTACCAATACCCACAGCTGCGTGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01081.hp2 others(23): Show HG00642.hp1 HG00735.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02965.hp1 HG03195.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0020 a0001c0021 a0003c0007 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0011 a0001c0005t0012 a0001c0009t0007 a0001c0009t0015 a0001c0016t0005 a0001c0020t0029 a0001c0021t0011 a0003c0007t0001 a0005c0012t0001	a0001c0001t0001g0013 a0001c0001t0001g0080 a0001c0001t0001g0118 others(23): Show a0001c0001t0001g0013 a0001c0001t0001g0080 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0002g0265 a0001c0002t0003g0090 a0001c0002t0003g0168 a0001c0002t0005g0005 a0001c0002t0005g0217 a0001c0003t0001g0085 a0001c0003t0001g0252 a0001c0003t0002g0253 a0001c0003t0011g0007 a0001c0005t0012g0184 a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0016t0005g0069 a0001c0020t0029g0111 a0001c0021t0011g0077 a0003c0007t0001g0151 a0003c0007t0001g0152 a0005c0012t0001g0121	26	284	0.0916	-36	c.152 others(55): Show c.152-28005_152-27970delCCACGCAGCTGTGGGTATTGGTAGTT TTTGCGTGGA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBLC_chr19_44772890_44805652	44778554	CCCCCAGC others(29): Show CCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGG	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18962.hp1 NA18966.hp1 others(1): Show NA18960.hp2 NA18962.hp1 NA18966.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(1): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163	4	344	0.0116	-36	c.353 others(51): Show c.353+299_353+334delGGTCCAGGCCCCAGCCCCTCCTCCCTCAGA CCCAGG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44781459	ACCTGGAC others(29): Show ACCTGGACTCCTGGATCTGAGGGAGGAGGGGCCGGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03239.hp1 HG00140.hp2 HG03239.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0054 a0003c0005t0001g0055 a0003c0005t0001g0054 a0003c0005t0001g0055	2	344	0.0058	-36	c.657 others(51): Show c.657+110_657+145delATCTGAGGGAGGAGGGGCCGGGGCCTGGAC TCCTGG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44781644	ACCTGGAC others(29): Show ACCTGGACTCCTGGGTCTGAGGGAGGAAGGCCTGGGG	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18951.hp2 NA18973.hp1 others(3): Show NA18950.hp2 NA18951.hp2 NA18973.hp1 NA19054.hp1 NA19060.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0274 a0001c0001t0001g0275 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278	6	344	0.0174	-36	c.657 others(51): Show c.657+308_657+343delAGGCCTGGGGCCTGGACTCCTGGGTCTGAG GGAGGA	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44781671	AGGCCTGG others(29): Show AGGCCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00642.hp1 others(28): Show HG00438.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG02004.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp2 HG03491.hp1 HG03516.hp1 HG03834.hp1 NA18984.hp2 NA18995.hp1 NA19005.hp2 NA19030.hp2 NA19054.hp2	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0004 a0000c0017 a0001c0001 others(1): Show a0000c0004 a0000c0017 a0001c0001 a0002c0003	a0000c0004t0001 a0000c0017t0001 a0001c0001t0001 others(1): Show a0000c0004t0001 a0000c0017t0001 a0001c0001t0001 a0002c0003t0001	a0000c0004t0001g0087 a0000c0004t0001g0088 a0000c0004t0001g0089 others(28): Show a0000c0004t0001g0087 a0000c0004t0001g0088 a0000c0004t0001g0089 a0000c0004t0001g0090 a0000c0004t0001g0091 a0000c0004t0001g0092 a0000c0004t0001g0093 a0000c0004t0001g0094 a0000c0004t0001g0095 a0000c0004t0001g0113 a0000c0017t0001g0114 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0102 a0001c0001t0001g0103 a0002c0003t0001g0074 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0158	31	344	0.0901	-36	c.657 others(51): Show c.657+383_657+418delCCTGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44801398	GCAGCCCC others(29): Show GCAGCCCCTTCTCCCTCAGACCCAGGAGTCCAGGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02071.hp1 HG02135.hp2 others(20): Show HG02056.hp1 HG02071.hp1 HG02135.hp2 HG02523.hp2 HG03486.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp2 NA18960.hp1 NA18970.hp1 NA18978.hp2 NA18985.hp1 NA18993.hp2 NA19001.hp2 NA19009.hp2 NA19056.hp2 NA19068.hp1 NA19088.hp2	a0000 a0001 a0000 a0001	a0000c0002 a0001c0001 a0000c0002 a0001c0001	a0000c0002t0001 a0001c0001t0001 a0000c0002t0001 a0001c0001t0001	a0000c0002t0001g0012 a0000c0002t0001g0034 a0000c0002t0001g0037 others(19): Show a0000c0002t0001g0012 a0000c0002t0001g0034 a0000c0002t0001g0037 a0000c0002t0001g0044 a0000c0002t0001g0077 a0000c0002t0001g0127 a0000c0002t0001g0201 a0000c0002t0001g0217 a0000c0002t0001g0218 a0000c0002t0001g0256 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0276	23	344	0.0669	-36	c.85 others(45): Show c.856_*891delCAGCCCCTTCTCCCTCAGACCCAGGAGTCCAGGCCC	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		747		chr19	TogoVar
CBLC_chr19_44772890_44805652	44801942	ACCCCTTC others(29): Show ACCCCTTCTCCCTCAGACCCAGGAGTCCAGGCCCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02148.hp1 NA18969.hp1 others(3): Show HG02015.hp1 HG02148.hp1 NA18969.hp1 NA18981.hp2 NA18988.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0080 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0080 a0001c0001t0001g0138 a0001c0001t0001g0287	6	344	0.0174	-36	c.14 others(47): Show c.1400_*1435delCCCCTTCTCCCTCAGACCCAGGAGTCCAGGCCCC AG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		1291		chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13925960	ACACGTAT others(29): Show ACACGTATATATATGTGTATATATATATACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0159 a0001c0006t0001g0159	1	370	0.0027	-36	c.194 others(53): Show c.1941-556_1941-521delCACGTATATATATGTGTATATATATATA CATATATG	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28			chr19	TogoVar
CC2D2A_chr4_15464882_15606552	15470673	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	344	0.0029	-36	c.-19 others(51): Show c.-19+618_-19+653delCTCTCTCTCTCTCTCTATATATATATATAT ATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470681	CTCTCTCT others(29): Show CTCTCTCTCTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	344	0.0029	-36	c.-19 others(51): Show c.-19+626_-19+661delCTCTCTCTATATATATATATATATATATAT ATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2B_chr10_95902975_96038745	95993934	GTGTGTGT others(29): Show GTGTGTGTGTATGTATGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0001 a0011c0024t0001	a0011c0024t0001g0133 a0011c0024t0001g0133	1	312	0.0032	-36	c.264 others(55): Show c.2642+1239_2642+1274delGTGTGTGTATGTATGTGTATATATAT ATATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95993938	GTGTGTAT others(29): Show GTGTGTATGTATGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0281 a0001c0007t0001g0281	1	312	0.0032	-36	c.264 others(55): Show c.2642+1243_2642+1278delGTGTATGTATGTGTATATATATATAT ATATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95993942	GTATGTAT others(29): Show GTATGTATGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0001 a0011c0032t0001	a0011c0032t0001g0017 a0011c0032t0001g0017	1	312	0.0032	-36	c.264 others(55): Show c.2642+1249_2642+1284delGTATGTGTATATATATATATATATAT ATATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCBE1_chr18_59425939_59702423	59658344	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	242	0.0041	-36	c.212 others(55): Show c.212+38249_212+38284delATATATATATATATATATATATATAT TTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658350	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0002 a0002c0002t0011g0002	1	242	0.0041	-36	c.212 others(55): Show c.212+38243_212+38278delATATATATATATATATATATATATAT ATATATTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658354	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	242	0.0041	-36	c.212 others(55): Show c.212+38239_212+38274delATATATATATATATATATATATATAT ATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC12_chr3_46916730_46981745	46980647	GCTCCCCA others(29): Show GCTCCCCACCCATCTCAGAAAATACTTCAGGTGGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	354	0.0028	-36	c.-39 others(47): Show c.-3951_-3916delACTCCACCTGAAGTATTTTCTGAGATGGGTGGGG AG	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding		3903		chr3	TogoVar
CCDC148_chr2_158166073_158461753	158293986	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1 NA18948.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0181 a0001c0001t0002g0187 a0001c0001t0001g0006 a0001c0001t0001g0181 a0001c0001t0002g0187	3	264	0.0114	-36	c.111 others(57): Show c.1110+15411_1110+15446delAGGAAGGAAGGAAGGAAGGAGGGA GGGAGGGAGGGA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	9/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158293990	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp2 HG02074.hp1 others(16): Show HG00323.hp1 HG01261.hp2 HG02074.hp1 HG02165.hp2 HG02647.hp1 HG02976.hp1 HG03471.hp1 HG03516.hp1 HG03669.hp1 NA18951.hp1 NA18971.hp1 NA18995.hp1 NA18999.hp2 NA19006.hp2 NA19010.hp2 NA19066.hp2 NA19076.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0194 a0001c0001t0001g0216 a0001c0001t0003g0113 others(16): Show a0001c0001t0001g0194 a0001c0001t0001g0216 a0001c0001t0003g0113 a0002c0002t0001g0023 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0261 a0002c0002t0002g0059 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0151 a0002c0002t0002g0257 a0002c0002t0003g0080 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165	19	264	0.0720	-36	c.111 others(57): Show c.1110+15407_1110+15442delAGGAAGGAAGGAAGGAAGGAAGGA GGGAGGGAGGGA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	9/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158293994	CTCCCTCC others(29): Show CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	264	0.0038	-36	c.111 others(57): Show c.1110+15403_1110+15438delAGGAAGGAAGGAAGGAAGGAAGGA AGGAGGGAGGGA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	9/13			chr2	TogoVar
CCDC152_chr5_42751818_42807439	42803727	AGTGCCTT others(29): Show AGTGCCTTTTTTATTTAAAAAAGATTTAAATATAGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	348	0.0029	-36	c.39 others(47): Show c.3947_*3982delGTGCCTTTTTTATTTAAAAAAGATTTAAATATAG TT	CCDC152	ENSG00000198865.10	transcript	ENST00000361970.10	protein_coding		1289		chr5	TogoVar
CCDC158_chr4_76308039_76426141	76319447	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp1 HG03540.hp1 HG02809.hp2 HG03098.hp1 HG03540.hp1	a0003 a0007 a0003 a0007	a0003c0005 a0007c0024 a0003c0005 a0007c0024	a0003c0005t0004 a0007c0024t0004 a0003c0005t0004 a0007c0024t0004	a0003c0005t0004g0328 a0003c0005t0004g0329 a0007c0024t0004g0330 a0003c0005t0004g0328 a0003c0005t0004g0329 a0007c0024t0004g0330	3	348	0.0086	-36	c.327 others(55): Show c.3277+3819_3277+3854delATATATATATATATATATTTTTTTTT TTTTTTTTTT	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24			chr4	TogoVar
CCDC158_chr4_76308039_76426141	76319449	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0327 a0003c0008t0005g0327	1	348	0.0029	-36	c.327 others(55): Show c.3277+3817_3277+3852delATATATATATATATATATATTTTTTT TTTTTTTTTT	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24			chr4	TogoVar
CCDC160_chrX_134232182_134251842	134232948	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02258.hp1 HG02132.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	311	0.0064	-36	c.-45 others(47): Show c.-4510_-4475delAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAG AA	CCDC160	ENSG00000203952.10	transcript	ENST00000695460.1	protein_coding		4233		chrX	TogoVar
CCDC160_chrX_134232182_134251842	134232952	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01934.hp1 HG02074.hp1 others(1): Show HG00544.hp2 HG01934.hp1 HG02074.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0014 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0026	4	311	0.0129	-36	c.-45 others(47): Show c.-4506_-4471delAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AA	CCDC160	ENSG00000203952.10	transcript	ENST00000695460.1	protein_coding		4229		chrX	TogoVar
CCDC186_chr10_114115862_114179203	114149750	AAGGCAGG others(29): Show AAGGCAGGAAGGAAGGAAGGAAGGAAGGCAGGAAGGC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	278	0.0036	-36	c.888 others(53): Show c.888+1306_888+1341delGCCTTCCTGCCTTCCTTCCTTCCTTCCT TCCTGCCT	CCDC186	ENSG00000165813.20	transcript	ENST00000369287.8	protein_coding	4/15			chr10	TogoVar
CCDC186_chr10_114115862_114179203	114149754	CAGGAAGG others(29): Show CAGGAAGGAAGGAAGGAAGGAAGGCAGGAAGGCAGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(60): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG01081.hp2 HG01106.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03654.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18940.hp1 NA18954.hp2 NA18960.hp1 NA18965.hp2 NA18975.hp1 NA18977.hp1 NA18988.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19082.hp1 NA19088.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0027 a0002c0002t0004 a0005c0005t0002 a0007c0008t0002	a0001c0001t0001g0229 a0001c0001t0002g0033 a0001c0001t0002g0090 others(60): Show a0001c0001t0001g0229 a0001c0001t0002g0033 a0001c0001t0002g0090 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0010g0088 a0001c0001t0027g0218 a0002c0002t0004g0035 a0005c0005t0002g0242 a0005c0005t0002g0243 a0007c0008t0002g0085	63	278	0.2266	-36	c.888 others(53): Show c.888+1302_888+1337delTCCTGCCTTCCTGCCTTCCTTCCTTCCT TCCTTCCT	CCDC186	ENSG00000165813.20	transcript	ENST00000369287.8	protein_coding	4/15			chr10	TogoVar
CCDC187_chr9_136244973_136309094	136293145	TCACAAAC others(29): Show TCACAAACACATGCTCACACACTCACATGCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 NA18522.hp2 HG02922.hp1 HG03098.hp1 NA18522.hp2	a0068 a0070 a0093 a0068 a0070 a0093	a0068c0062 a0070c0063 a0093c0194 a0068c0062 a0070c0063 a0093c0194	a0068c0062t0066 a0070c0063t0138 a0093c0194t0013 a0068c0062t0066 a0070c0063t0138 a0093c0194t0013	a0068c0062t0066g0024 a0070c0063t0138g0023 a0093c0194t0013g0369 a0068c0062t0066g0024 a0070c0063t0138g0023 a0093c0194t0013g0369	3	400	0.0075	-36	c.833 others(51): Show c.833-886_833-851delTGTGTGAGCATGTGAGTGTGTGAGCATGTG TTTGTG	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	4/25			chr9	TogoVar
CCDC188_chr22_20143416_20156055	20153942	TCCAGGCG others(29): Show TCCAGGCGGCATCTCGGGCTGCAGGGCTGTGGTCTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	408	0.0025	-36	c.-29 others(47): Show c.-2992_-2957delCCAGACCACAGCCCTGCAGCCCGAGATGCCGCCT GG	CCDC188	ENSG00000234409.7	transcript	ENST00000439765.4	protein_coding		2888		chr22	TogoVar
CCDC32_chr15_40548099_40570042	40553905	CGTGTGTG others(29): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(51): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02135.hp1 HG02165.hp1 HG02300.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG03017.hp1 HG03490.hp2 HG03654.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18942.hp2 NA18951.hp1 NA18957.hp1 NA18961.hp2 NA18967.hp2 NA19011.hp1 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19091.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0017 others(8): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069	54	400	0.1350	-36	c.30 others(43): Show c.30_*65delACACACACACACACACACACACACACACACACACAC	CCDC32	ENSG00000128891.17	transcript	ENST00000416810.7	protein_coding	4/4	30		chr15	TogoVar
CCDC38_chr12_95862048_95947614	95908621	GGGAGAGG others(29): Show GGGAGAGGGAGAGGGAGGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG02647.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0126 a0002c0004t0001g0142 a0002c0004t0001g0126 a0002c0004t0001g0142	2	350	0.0057	-36	c.305 others(53): Show c.305-2206_305-2171delTCCCTCTCCCTCTCCCTCTCCTCCCTCT CCCTCTCC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC40_chr17_80031642_80105613	80072739	TTGCAAGA others(29): Show TTGCAAGATCAGTAGTCTGTTCCTTTTTATTGTTGAA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	378	0.0027	-36	c.156 others(55): Show c.1562+7135_1562+7170delGCAAGATCAGTAGTCTGTTCCTTTTT ATTGTTGAAT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC57_chr17_82096470_82217842	82149779	GCACCCAG others(29): Show GCACCCAGAACCAGGCGCACACCCGGAACCTGACCCA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 NA19030.hp1 HG02622.hp2 HG02818.hp2 NA19030.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0025 a0002c0009t0002g0026 a0002c0009t0002g0027 a0002c0009t0002g0025 a0002c0009t0002g0026 a0002c0009t0002g0027	3	252	0.0119	-36	c.245 others(55): Show c.2455+1745_2455+1780delTGGGTCAGGTTCCGGGTGTGCGCCTG GTTCTGGGTG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82150287	CCAGAACC others(29): Show CCAGAACCTGGTGCACACCCAGAACCAGGTGCACACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(117): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0007 a0010 a0012 a0014 a0015 a0023	a0001c0001 a0001c0023 a0001c0027 others(10): Show a0001c0001 a0001c0023 a0001c0027 a0004c0007 a0004c0029 a0005c0008 a0006c0010 a0007c0011 a0010c0016 a0012c0017 a0014c0020 a0015c0030 a0023c0031	a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 a0001c0027t0001 a0004c0007t0002 a0004c0029t0002 a0005c0008t0001 a0006c0010t0001 a0007c0011t0002 a0010c0016t0001 a0012c0017t0001 a0014c0020t0002 a0015c0030t0001 a0023c0031t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(117): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0251 a0001c0001t0004g0144 a0001c0023t0001g0248 a0001c0027t0001g0072 a0004c0007t0002g0069 a0004c0007t0002g0174 a0004c0007t0002g0175 a0004c0007t0002g0176 a0004c0007t0002g0177 a0004c0007t0002g0178 a0004c0007t0002g0180 a0004c0029t0002g0157 a0005c0008t0001g0064 a0005c0008t0001g0065 a0005c0008t0001g0066 a0005c0008t0001g0067 a0005c0008t0001g0068 a0005c0008t0001g0173 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0013 a0006c0010t0001g0014 a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 a0007c0011t0002g0018 a0010c0016t0001g0106 a0010c0016t0001g0184 a0012c0017t0001g0021 a0012c0017t0001g0022 a0014c0020t0002g0063 a0015c0030t0001g0002 a0023c0031t0001g0109	120	252	0.4762	-36	c.245 others(55): Show c.2455+1237_2455+1272delAGTGTGCACCTGGTTCTGGGTGTGCA CCAGGTTCTG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82150839	CCGCACCC others(29): Show CCGCACCCAGAACCAGGCGCACACCCAGAACCTGGTG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp2 HG03130.hp1 HG03540.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0019 a0013c0014t0001g0020 a0013c0014t0001g0019 a0013c0014t0001g0020	2	252	0.0079	-36	c.245 others(53): Show c.2455+685_2455+720delCACCAGGTTCTGGGTGTGCGCCTGGTTC TGGGTGCG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC57_chr17_82096470_82217842	82151414	CGCACCCC others(29): Show CGCACCCCCAGAATCTGACCCACATCCAGAACCTGGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02886.hp1 others(1): Show HG02572.hp1 HG02647.hp1 HG02886.hp1 HG03139.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 others(1): Show a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 a0007c0011t0002g0018	4	252	0.0159	-36	c.245 others(53): Show c.2455+110_2455+145delACCAGGTTCTGGATGTGGGTCAGATTCT GGGGGTGC	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC60_chr12_119329729_119546040	119507555	TATATATA others(29): Show TATATATATATATATGTATATATACACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01167.hp2 others(6): Show HG00733.hp2 HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01978.hp1 HG01981.hp1 HG02300.hp1 NA18747.hp1 NA18747.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0002c0007t0003 a0003c0003t0004	a0001c0001t0001g0012 a0001c0001t0001g0165 a0001c0001t0001g0201 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0165 a0001c0001t0001g0201 a0001c0001t0002g0095 a0001c0001t0002g0141 a0002c0002t0004g0227 a0002c0002t0004g0228 a0002c0007t0003g0244 a0003c0003t0004g0233	9	256	0.0352	-36	c.883 others(53): Show c.883+2267_883+2302delGTATATATACACATATATATACATATAT ATATATAT	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110888786	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp2 HG02486.hp2 others(5): Show HG01243.hp1 HG01943.hp2 HG02486.hp2 HG02809.hp2 HG02896.hp1 HG03195.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0179 a0001c0001t0002g0205 others(5): Show a0001c0001t0001g0091 a0001c0001t0001g0179 a0001c0001t0002g0205 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251	8	288	0.0278	-36	c.107 others(55): Show c.1075-4250_1075-4215delCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC71L_chr7_106649360_106666158	106649703	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18522.hp2 NA18959.hp2 HG03471.hp2 NA18522.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0019 a0001c0001t0003 a0001c0002t0019	a0001c0001t0003g0000 a0001c0002t0019g0000 a0001c0001t0003g0000 a0001c0002t0019g0000	3	440	0.0068	-36	c.10 others(49): Show c.10450_*10485delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	CCDC71L	ENSG00000253276.5	transcript	ENST00000523505.3	protein_coding		4656		chr7	TogoVar
CCDC73_chr11_32597721_32799662	32786411	ATATTATT others(29): Show ATATTATTTATATAATTATAATATATAATAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01123.hp1 HG01496.hp1 others(26): Show HG00597.hp1 HG01123.hp1 HG01496.hp1 HG01975.hp2 HG01981.hp2 HG02083.hp2 HG02165.hp1 HG02723.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03669.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18992.hp2 NA19003.hp2 NA19011.hp2 NA19068.hp1 NA19072.hp2 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 others(26): Show a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0004t0001g0176 a0001c0004t0001g0180 a0001c0004t0001g0200 a0001c0004t0001g0201	29	312	0.0930	-36	c.-16 others(53): Show c.-16+8166_-16+8201delATATATTTATTATATATTATAATTATAT AAATAATA	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	1/17			chr11	TogoVar
CCDC77_chr12_396644_447642	416369	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0359 a0001c0001t0004g0359	1	432	0.0023	-36	c.271 others(53): Show c.271-2123_271-2088delGTGTGTGTATATATATATATATATATAT ATATATAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC7_chr10_32441140_32887864	32461701	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	368	0.0027	-36	c.457 others(51): Show c.457-980_457-945delGTGTGTGTATATATATATATATATATATGT ATATAT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32461703	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01167.hp1 others(19): Show HG01099.hp2 HG01109.hp2 HG01167.hp1 HG02109.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0010 a0001c0002 a0008c0010	a0001c0002t0001 a0008c0010t0001 a0001c0002t0001 a0008c0010t0001	a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 others(19): Show a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0008c0010t0001g0129 a0008c0010t0001g0130 a0008c0010t0001g0131 a0008c0010t0001g0132 a0008c0010t0001g0133	22	368	0.0598	-36	c.457 others(51): Show c.457-978_457-943delGTGTGTATATATATATATATATATATGTAT ATATAT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr10	TogoVar

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