Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC88A_chr2_55282842_55424856	55416427	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03491.hp2 HG03492.hp1 others(1): Show HG02809.hp2 HG03491.hp2 HG03492.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 others(1): Show a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0009g0107	4	316	0.0127	10	c.164 others(27): Show c.164+2388_164+2389insATATATATAT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	2/32			chr2	TogoVar
CCDC88B_chr11_64335204_64362534	64336059	C C	CATATATA others(3): Show CATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0001 a0001c0051t0001	a0001c0051t0001g0007 a0001c0051t0001g0007	1	400	0.0025	10	c.-42 others(21): Show c.-4208_-4207insATATATACAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4144		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64336097	C C	CACACACA others(3): Show CACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0034	1	400	0.0025	10	c.-41 others(21): Show c.-4170_-4169insACACACACAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4106		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64336097	C C	CACACACA others(3): Show CACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG03688.hp2 HG04199.hp2 HG00140.hp2 HG03688.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0006 a0002c0002t0004g0005 a0002c0002t0004g0126 a0002c0002t0002g0006 a0002c0002t0004g0005 a0002c0002t0004g0126	3	400	0.0075	10	c.-41 others(21): Show c.-4170_-4169insACACACATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4106		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64336097	C C	CACACATA others(3): Show CACACATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA19057.hp2 NA19080.hp2 NA18950.hp1 NA19057.hp2 NA19080.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0006 a0002c0011t0002g0141 a0002c0011t0002g0006 a0002c0011t0002g0141	3	400	0.0075	10	c.-41 others(21): Show c.-4170_-4169insACACATATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4106		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64340346	C C	CGGGTTGG others(3): Show CGGGTTGGGGA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0192 a0003c0003t0001g0192	1	400	0.0025	10	c.60+ others(21): Show c.60+24_60+33dupTTGGGGAGGG	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC88C_chr14_91266323_91422820	91360252	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(20): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01884.hp1 HG01943.hp1 HG02735.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03486.hp2 HG03831.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0021	a0001c0001 a0001c0004 a0001c0006 others(13): Show a0001c0001 a0001c0004 a0001c0006 a0001c0011 a0001c0020 a0001c0024 a0001c0028 a0001c0076 a0002c0002 a0002c0016 a0003c0074 a0006c0012 a0006c0072 a0007c0040 a0007c0052 a0021c0053	a0001c0001t0001 a0001c0004t0001 a0001c0006t0003 others(13): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0003 a0001c0011t0001 a0001c0020t0001 a0001c0024t0001 a0001c0028t0001 a0001c0076t0001 a0002c0002t0001 a0002c0016t0001 a0003c0074t0002 a0006c0012t0001 a0006c0072t0001 a0007c0040t0011 a0007c0052t0011 a0021c0053t0001	a0001c0001t0001g0095 a0001c0001t0001g0182 a0001c0004t0001g0081 others(20): Show a0001c0001t0001g0095 a0001c0001t0001g0182 a0001c0004t0001g0081 a0001c0006t0003g0277 a0001c0011t0001g0208 a0001c0011t0001g0211 a0001c0020t0001g0210 a0001c0024t0001g0244 a0001c0028t0001g0215 a0001c0076t0001g0213 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0016t0001g0217 a0002c0016t0001g0218 a0003c0074t0002g0202 a0006c0012t0001g0077 a0006c0012t0001g0176 a0006c0072t0001g0196 a0007c0040t0011g0054 a0007c0052t0011g0166 a0021c0053t0001g0239	23	284	0.0810	10	c.271 others(25): Show c.271-551_271-542dupTGTGTGTGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	3/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91366153	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02083.hp1 NA19057.hp2 others(3): Show HG00609.hp1 HG02083.hp1 NA19057.hp2 NA19068.hp2 NA19077.hp1 NA19083.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0008 a0001c0001 a0002c0005 a0004c0008	a0001c0001t0001 a0002c0005t0001 a0004c0008t0002 a0001c0001t0001 a0002c0005t0001 a0004c0008t0002	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0164 others(3): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0164 a0002c0005t0001g0170 a0004c0008t0002g0036 a0004c0008t0002g0098	6	284	0.0211	10	c.271 others(27): Show c.271-6452_271-6443dupGTGTGTGTGT	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	3/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91372540	G G	GGGGGGGG others(3): Show GGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0001 a0002c0061t0001	a0002c0061t0001g0010 a0002c0061t0001g0010	1	284	0.0035	10	c.271 others(29): Show c.271-12830_271-12829insGCCCCCCCCC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	3/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91418485	T T	TACCGTGC others(3): Show TACCGTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0062 a0002c0062	a0002c0062t0001 a0002c0062t0001	a0002c0062t0001g0266 a0002c0062t0001g0266	1	284	0.0035	10	c.-79 others(19): Show c.-796_-795insGGGGCACGGT	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding		666		chr14	TogoVar
CCDC8_chr19_46405329_46418564	46409897	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01891.hp2 HG02145.hp2 others(18): Show HG01346.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02615.hp2 HG02818.hp1 HG02895.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp2 HG04199.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18967.hp1 NA18973.hp1 NA18984.hp1 NA19000.hp2 NA19043.hp2 NA19081.hp2 NA20300.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0010 a0005c0007 others(1): Show a0001c0001 a0001c0010 a0005c0007 a0010c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0010t0003 a0005c0007t0001 a0010c0015t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0010g0000 others(5): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0010g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0010t0003g0000 a0005c0007t0001g0000 a0010c0015t0001g0000	21	456	0.0461	10	c.12 others(21): Show c.1296_*1297insAAAAAAAAAA	CCDC8	ENSG00000169515.9	transcript	ENST00000307522.5	protein_coding		431		chr19	TogoVar
CCDC8_chr19_46405329_46418564	46417366	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00735.hp1 others(44): Show HG00140.hp1 HG00323.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp2 HG02735.hp2 HG02896.hp1 HG03041.hp2 HG03139.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp2 NA18950.hp2 NA18954.hp1 NA18964.hp1 NA18988.hp2 NA19000.hp1 NA19064.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0022 a0001c0001t0026	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0016g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0016g0000 a0001c0001t0022g0000 a0001c0001t0026g0000	47	456	0.1031	10	c.-45 others(21): Show c.-4557_-4556insTTTTTTTTTT	CCDC8	ENSG00000169515.9	transcript	ENST00000307522.5	protein_coding		3803		chr19	TogoVar
CCDC91_chr12_28185456_28555166	28237235	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01071.hp1 others(33): Show HG00408.hp1 HG00639.hp1 HG01071.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG02004.hp2 HG02056.hp2 HG02129.hp2 HG02258.hp2 HG02300.hp1 HG02698.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG04204.hp1 NA18940.hp2 NA18943.hp2 NA18952.hp1 NA18957.hp2 NA18968.hp2 NA18975.hp2 NA18978.hp1 NA19011.hp1 NA19064.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0008c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0005c0005t0001 a0008c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0117 a0001c0001t0001g0118 others(33): Show a0001c0001t0001g0012 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0002c0002t0001g0058 a0002c0002t0001g0069 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0124 a0002c0002t0003g0024 a0002c0002t0003g0025 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0238 a0003c0003t0001g0239 a0005c0005t0001g0078 a0008c0010t0001g0204	36	242	0.1488	10	c.-14 others(29): Show c.-14-19945_-14-19936dupCACACACACA	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28264575	A A	ATGTCTGT others(3): Show ATGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0236 a0003c0003t0001g0237	2	242	0.0083	10	c.109 others(27): Show c.109+5134_109+5135insGTCTGTCTGT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28264585	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00738.hp1 others(18): Show HG00408.hp2 HG00621.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01257.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG02055.hp2 HG02300.hp1 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG03098.hp1 HG03492.hp2 HG03704.hp1 HG06807.hp2 NA18940.hp2 NA18978.hp1 NA19011.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0004c0004t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0002 a0004c0004t0006 a0006c0006t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(18): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0124 a0004c0004t0002g0093 a0004c0004t0002g0094 a0004c0004t0002g0095 a0004c0004t0002g0099 a0004c0004t0002g0103 a0004c0004t0002g0104 a0004c0004t0002g0105 a0004c0004t0002g0106 a0004c0004t0002g0156 a0004c0004t0006g0096 a0006c0006t0001g0198	21	242	0.0868	10	c.109 others(27): Show c.109+5169_109+5178dupGTGTGTGTGT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28267807	A A	ACTATATA others(3): Show ACTATATAATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00558.hp1 others(56): Show HG00140.hp2 HG00408.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02145.hp2 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp2 NA19043.hp1 NA19062.hp1 NA19070.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 a0005c0005t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(56): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0113 a0001c0001t0001g0173 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0124 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0005c0005t0001g0020 a0005c0005t0001g0021 a0005c0005t0001g0037 a0005c0005t0001g0078 a0005c0005t0001g0079 a0005c0005t0001g0081 a0005c0005t0002g0022	59	242	0.2438	10	c.109 others(27): Show c.109+8365_109+8366insCTATATAATT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12			chr12	TogoVar
CCDC91_chr12_28185456_28555166	28267905	T T	TATTATAT others(3): Show TATTATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01071.hp1 others(32): Show HG00280.hp1 HG00323.hp2 HG01071.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG02132.hp1 HG02280.hp2 HG02683.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp1 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18983.hp2 NA18984.hp2 NA19012.hp1 NA19062.hp2 NA19079.hp2 NA19084.hp1 NA19087.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0001 a0003c0003t0005 a0003c0008t0001 a0003c0003t0001 a0003c0003t0005 a0003c0008t0001	a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 others(32): Show a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0005g0229 a0003c0008t0001g0225	35	242	0.1446	10	c.109 others(27): Show c.109+8469_109+8478dupATATAATTAT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28304375	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	242	0.0041	10	c.110 others(27): Show c.110-1257_110-1248dupAAAAAAAAAA	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28406810	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0240 a0003c0003t0001g0240	1	242	0.0041	10	c.762 others(29): Show c.762+15408_762+15409insTTTTTTTTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28415664	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03516.hp1 HG03098.hp1 HG03516.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0010 a0004c0004 a0008c0010	a0004c0004t0002 a0008c0010t0001 a0004c0004t0002 a0008c0010t0001	a0004c0004t0002g0106 a0008c0010t0001g0204 a0004c0004t0002g0106 a0008c0010t0001g0204	2	242	0.0083	10	c.762 others(29): Show c.762+24269_762+24278dupGTGTGTGTGT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28417620	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0204 a0008c0010t0001g0204	1	242	0.0041	10	c.762 others(29): Show c.762+26221_762+26230dupTATATATATA	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28417640	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	242	0.0041	10	c.762 others(29): Show c.762+26230_762+26231insTATATATACA	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28441084	A A	AAAAAGAA others(3): Show AAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19090.hp2 HG02080.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0090 a0002c0002t0001g0068 a0002c0002t0001g0090	2	242	0.0083	10	c.763 others(27): Show c.763-9077_763-9076insAAAAGAAAAG	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12			chr12	TogoVar
CCDC91_chr12_28185456_28555166	28447713	A A	AAGGGCAG others(3): Show AAGGGCAGGGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02717.hp1 HG01993.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0173 a0001c0001t0001g0152 a0001c0001t0001g0173	2	242	0.0083	10	c.763 others(27): Show c.763-2423_763-2414dupCAGGGCAGGG	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28458455	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0102 a0007c0007t0002g0102	1	242	0.0041	10	c.110 others(29): Show c.1101+5824_1101+5833dupTTTTTTTTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28510237	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03516.hp1 HG01175.hp1 HG03516.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0010 a0004c0004 a0008c0010	a0004c0004t0001 a0008c0010t0001 a0004c0004t0001 a0008c0010t0001	a0004c0004t0001g0200 a0008c0010t0001g0204 a0004c0004t0001g0200 a0008c0010t0001g0204	2	242	0.0083	10	c.121 others(31): Show c.1215+26084_1215+26093dupGTGTGTGTGT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28519294	G G	GTTTGTTT others(3): Show GTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01071.hp1 others(31): Show HG00323.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG02132.hp1 HG02683.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp1 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18983.hp2 NA18984.hp2 NA19012.hp1 NA19062.hp2 NA19079.hp2 NA19084.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0008 a0004c0004 a0003c0003 a0003c0008 a0004c0004	a0003c0003t0001 a0003c0008t0001 a0004c0004t0002 a0003c0003t0001 a0003c0008t0001 a0004c0004t0002	a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 others(31): Show a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0224 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0008t0001g0225 a0004c0004t0002g0099 a0004c0004t0002g0105	34	242	0.1405	10	c.121 others(31): Show c.1216-29751_1216-29742dupTGTTTTGTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC92B_chr17_2715801_2754652	2730518	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	418	0.0024	10	c.131 others(23): Show c.131-26_131-25insACACACACAC	CCDC92B	ENSG00000277200.2	transcript	ENST00000614400.2	protein_coding	2/3			chr17	TogoVar
CCDC92B_chr17_2715801_2754652	2730521	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00639.hp2 others(26): Show HG00099.hp2 HG00609.hp1 HG00639.hp2 HG01099.hp1 HG01243.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG02135.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02886.hp2 HG03209.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp2 NA18977.hp1 NA18981.hp2 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0042 a0001c0001t0045 a0001c0001t0053 a0001c0001t0069 a0002c0002t0001 a0002c0002t0005 a0002c0002t0011	a0001c0001t0001g0162 a0001c0001t0002g0228 a0001c0001t0002g0248 others(26): Show a0001c0001t0001g0162 a0001c0001t0002g0228 a0001c0001t0002g0248 a0001c0001t0002g0278 a0001c0001t0002g0319 a0001c0001t0002g0349 a0001c0001t0002g0390 a0001c0001t0003g0127 a0001c0001t0003g0391 a0001c0001t0003g0393 a0001c0001t0008g0076 a0001c0001t0008g0083 a0001c0001t0013g0126 a0001c0001t0015g0051 a0001c0001t0017g0384 a0001c0001t0018g0064 a0001c0001t0020g0078 a0001c0001t0042g0028 a0001c0001t0045g0291 a0001c0001t0053g0200 a0001c0001t0069g0321 a0002c0002t0001g0318 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0356 a0002c0002t0001g0397 a0002c0002t0001g0407 a0002c0002t0005g0070 a0002c0002t0011g0252	29	418	0.0694	10	c.131 others(23): Show c.131-38_131-29dupCACACACACA	CCDC92B	ENSG00000277200.2	transcript	ENST00000614400.2	protein_coding	2/3			chr17	TogoVar
CCDC92B_chr17_2715801_2754652	2749570	C C	CGGGGCTC others(3): Show CGGGGCTCCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG00741.hp2 others(64): Show HG00597.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03834.hp1 HG06807.hp1 NA18944.hp2 NA18951.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp2 NA18981.hp2 NA18982.hp1 NA18991.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19091.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 others(21): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0002c0002t0005 a0002c0002t0036 a0002c0002t0037	a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 others(64): Show a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0050 a0001c0001t0006g0052 a0001c0001t0009g0033 a0001c0001t0009g0034 a0001c0001t0009g0035 a0001c0001t0009g0053 a0001c0001t0009g0067 a0001c0001t0009g0068 a0001c0001t0009g0069 a0001c0001t0014g0013 a0001c0001t0014g0014 a0001c0001t0014g0022 a0001c0001t0014g0023 a0001c0001t0014g0024 a0001c0001t0015g0036 a0001c0001t0015g0045 a0001c0001t0015g0047 a0001c0001t0015g0051 a0001c0001t0015g0061 a0001c0001t0018g0041 a0001c0001t0018g0063 a0001c0001t0018g0064 a0001c0001t0021g0026 a0001c0001t0021g0027 a0001c0001t0022g0012 a0001c0001t0022g0032 a0001c0001t0023g0043 a0001c0001t0023g0046 a0001c0001t0030g0006 a0001c0001t0031g0009 a0001c0001t0032g0008 a0001c0001t0033g0007 a0001c0001t0034g0011 a0001c0001t0035g0010 a0001c0001t0038g0029 a0001c0001t0039g0072 a0001c0001t0040g0044 a0001c0001t0041g0025 a0001c0001t0042g0028 a0001c0001t0043g0062 a0001c0001t0044g0066 a0002c0002t0005g0037 a0002c0002t0005g0038 a0002c0002t0005g0039 a0002c0002t0005g0040 a0002c0002t0005g0042 a0002c0002t0005g0049 a0002c0002t0005g0054 a0002c0002t0005g0055 a0002c0002t0005g0056 a0002c0002t0005g0058 a0002c0002t0005g0059 a0002c0002t0005g0060 a0002c0002t0005g0065 a0002c0002t0005g0070 a0002c0002t0005g0071 a0002c0002t0036g0048 a0002c0002t0037g0057	67	418	0.1603	10	c.-19 others(19): Show c.-193_-184dupCCGGAGCCCC	CCDC92B	ENSG00000277200.2	transcript	ENST00000614400.2	protein_coding	1/4	14426		chr17	TogoVar
CCDC93_chr2_117910481_118019070	117911880	G G	GTTGGAAG others(3): Show GTTGGAAGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0129 a0001c0001t0028g0129	1	322	0.0031	10	c.84 others(21): Show c.8462_*8463insGAACTTCCAA	CCDC93	ENSG00000125633.11	transcript	ENST00000376300.7	protein_coding		3600		chr2	TogoVar
CCDC97_chr19_41305172_41329873	41323782	C C	CGCCCCAT others(3): Show CGCCCCATGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	352	0.0028	10	c.10 others(21): Show c.1073_*1082dupATGGAGCCCC	CCDC97	ENSG00000142039.4	transcript	ENST00000269967.4	protein_coding	5/5	1083	INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC9_chr19_47251525_47276953	47254421	T T	TTATATAT others(3): Show TTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02970.hp1 HG03486.hp2 others(2): Show HG00642.hp2 HG02970.hp1 HG03486.hp2 NA18942.hp1 NA19079.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0005 a0004c0007 a0002c0001 a0004c0005 a0004c0007	a0002c0001t0031 a0002c0001t0084 a0004c0005t0024 others(2): Show a0002c0001t0031 a0002c0001t0084 a0004c0005t0024 a0004c0005t0025 a0004c0007t0028	a0002c0001t0031g0208 a0002c0001t0084g0002 a0004c0005t0024g0160 others(2): Show a0002c0001t0031g0208 a0002c0001t0084g0002 a0004c0005t0024g0160 a0004c0005t0025g0154 a0004c0007t0028g0146	5	402	0.0124	10	c.-22 others(21): Show c.-2260_-2259insTATATATATA	CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding		2103		chr19	TogoVar
CCDC9_chr19_47251525_47276953	47254469	A A	ATACATTT others(3): Show ATACATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01891.hp2 NA18977.hp1 HG01517.hp2 HG01891.hp2 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0003t0035 a0001c0002t0002 a0001c0003t0002 a0001c0003t0035	a0001c0002t0002g0001 a0001c0003t0002g0027 a0001c0003t0035g0123 a0001c0002t0002g0001 a0001c0003t0002g0027 a0001c0003t0035g0123	3	402	0.0075	10	c.-22 others(21): Show c.-2212_-2211insTACATTTTTT	CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding		2055		chr19	TogoVar
CCDC9_chr19_47251525_47276953	47254469	A A	ATATACAT others(3): Show ATATACATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0024	1	402	0.0025	10	c.-22 others(21): Show c.-2212_-2211insTATACATTTT	CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding		2055		chr19	TogoVar
CCDC9_chr19_47251525_47276953	47271688	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0133 a0002c0001t0133	a0002c0001t0133g0214 a0002c0001t0133g0214	1	402	0.0025	10	c.10 others(17): Show c.10_*11insGTGTGTGTGT	CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding	12/12	11		chr19	TogoVar
CCDC9_chr19_47251525_47276953	47271689	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG03669.hp1 HG00621.hp1 HG03669.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0117 a0002c0001t0121 a0002c0001t0117 a0002c0001t0121	a0002c0001t0117g0126 a0002c0001t0121g0005 a0002c0001t0117g0126 a0002c0001t0121g0005	2	402	0.0050	10	c.46 others(17): Show c.46_*55dupTGTGTGTGTG	CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding	12/12	56	INFO_REALIGN_3_PRIME	chr19	TogoVar
CCER2_chr19_38903980_38917186	38913768	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02155.hp1 NA18960.hp2 others(3): Show HG02083.hp2 HG02155.hp1 NA18960.hp2 NA18968.hp2 NA19003.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0026 a0002c0002t0001g0002 a0002c0002t0001g0026	6	450	0.0133	10	c.-16 others(21): Show c.-1611_-1610insTTTTTTTTTT	CCER2	ENSG00000262484.2	transcript	ENST00000571838.2	protein_coding		1583		chr19	TogoVar
CCIN_chr9_36164388_36176334	36164611	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02135.hp1 NA20300.hp2 HG01975.hp2 HG02135.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	3	426	0.0070	10	c.-48 others(21): Show c.-4892_-4891insACACACACAC	CCIN	ENSG00000185972.6	transcript	ENST00000335119.4	protein_coding		4776		chr9	TogoVar
CCKBR_chr11_6254838_6277127	6259501	A A	ATCTCTCT others(3): Show ATCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	426	0.0024	10	c.-42 others(19): Show c.-428_-427insTCTCTCTCTC	CCKBR	ENSG00000110148.10	transcript	ENST00000334619.7	protein_coding		336		chr11	TogoVar
CCKBR_chr11_6254838_6277127	6259543	C C	CTCTCTCT others(3): Show CTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG02055.hp1 others(25): Show HG00642.hp2 HG00733.hp1 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02451.hp2 HG02698.hp1 HG02809.hp2 HG02970.hp1 HG03239.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04204.hp1 NA18612.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18995.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19078.hp2 NA19079.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0004c0005 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0031 a0001c0003t0001 a0003c0004t0001 a0003c0004t0002 a0004c0005t0001 a0005c0008t0002	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 others(24): Show a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0111 a0001c0001t0001g0191 a0001c0001t0001g0205 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0155 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0206 a0001c0001t0002g0235 a0001c0001t0003g0151 a0001c0001t0011g0173 a0001c0001t0016g0195 a0001c0001t0019g0225 a0001c0001t0031g0256 a0001c0003t0001g0144 a0003c0004t0001g0005 a0003c0004t0001g0202 a0003c0004t0001g0204 a0003c0004t0002g0005 a0004c0005t0001g0005 a0005c0008t0002g0035	28	426	0.0657	10	c.-38 others(19): Show c.-386_-385insTCTCTCTCTT	CCKBR	ENSG00000110148.10	transcript	ENST00000334619.7	protein_coding		294		chr11	TogoVar
CCKBR_chr11_6254838_6277127	6261454	A A	AAAAAAAA others(3): Show AAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0119 a0001c0001t0027g0119	1	426	0.0024	10	c.151 others(27): Show c.151+1376_151+1377insAAAAAATATA	CCKBR	ENSG00000110148.10	transcript	ENST00000334619.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCKBR_chr11_6254838_6277127	6261454	A A	AAAAAATA others(3): Show AAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18990.hp2 NA19082.hp1 NA18945.hp2 NA18990.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0128 a0001c0001t0002g0130 a0001c0001t0005g0129 a0001c0001t0001g0128 a0001c0001t0002g0130 a0001c0001t0005g0129	3	426	0.0070	10	c.151 others(27): Show c.151+1376_151+1377insAAAATATATA	CCKBR	ENSG00000110148.10	transcript	ENST00000334619.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCKBR_chr11_6254838_6277127	6261462	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp1 HG02083.hp2 others(6): Show HG00642.hp2 HG01433.hp1 HG02083.hp2 HG02809.hp2 NA18952.hp1 NA18988.hp2 NA19075.hp1 NA19078.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0026 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0154 a0001c0001t0002g0145 a0001c0001t0002g0155 others(6): Show a0001c0001t0001g0154 a0001c0001t0002g0145 a0001c0001t0002g0155 a0001c0001t0019g0225 a0001c0001t0026g0150 a0002c0002t0001g0071 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0005g0076	9	426	0.0211	10	c.151 others(27): Show c.151+1411_151+1420dupCACACACACA	CCKBR	ENSG00000110148.10	transcript	ENST00000334619.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCKBR_chr11_6254838_6277127	6262722	G G	GAGAGAGA others(3): Show GAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01069.hp1 others(20): Show HG00438.hp2 HG00544.hp2 HG01069.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01361.hp2 HG02040.hp2 HG02071.hp2 HG02922.hp1 HG02970.hp1 HG03710.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19030.hp1 NA19055.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0134 others(15): Show a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0134 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0303 a0001c0001t0003g0011 a0001c0001t0003g0249 a0001c0001t0004g0198 a0001c0003t0001g0020 a0001c0003t0001g0144 a0001c0003t0001g0216	23	426	0.0540	10	c.151 others(27): Show c.151+2646_151+2647insGAGAGAAAGA	CCKBR	ENSG00000110148.10	transcript	ENST00000334619.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCKBR_chr11_6254838_6277127	6264737	A A	ACACACAC others(3): Show ACACACACACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0094 a0001c0001t0016g0094	1	426	0.0024	10	c.151 others(27): Show c.151+4665_151+4666insACGCACACAC	CCKBR	ENSG00000110148.10	transcript	ENST00000334619.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCL15_chr17_35992582_36006553	35994462	C C	CCACACAC others(3): Show CCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG03041.hp1 others(2): Show HG02257.hp2 HG02572.hp2 HG03041.hp1 HG03486.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0085 a0002c0002t0001g0023 a0002c0002t0001g0080 a0001c0001t0002g0085 a0002c0002t0001g0023 a0002c0002t0001g0080	5	441	0.0113	10	c.33 others(21): Show c.3304_*3305insTGTGTGTGTG	CCL15	ENSG00000275718.2	transcript	ENST00000617897.2	protein_coding		3119		chr17	TogoVar
CCL15_chr17_35992582_36006553	36003518	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG00738.hp1 others(10): Show HG00140.hp1 HG00735.hp1 HG00738.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02738.hp2 HG03239.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0068	13	441	0.0295	10	c.-20 others(21): Show c.-2027_-2026insGCACACACAC	CCL15	ENSG00000275718.2	transcript	ENST00000617897.2	protein_coding		1966		chr17	TogoVar
CCL15_chr17_35992582_36006553	36003520	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01255.hp1 others(10): Show HG01070.hp1 HG01071.hp2 HG01255.hp1 HG02027.hp2 HG02132.hp2 HG02451.hp1 HG02523.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0065 a0002c0002t0001g0014 a0002c0002t0001g0028 others(4): Show a0001c0001t0001g0065 a0002c0002t0001g0014 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0071 a0002c0002t0001g0073	13	441	0.0295	10	c.-20 others(21): Show c.-2029_-2028insGCACACACAC	CCL15	ENSG00000275718.2	transcript	ENST00000617897.2	protein_coding		1968		chr17	TogoVar
CCL16_chr17_35971499_35986497	35974417	T T	TATATATA others(3): Show TATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	457	0.0022	10	c.31 others(21): Show c.3148_*3149insGTATATATAT	CCL16	ENSG00000275152.5	transcript	ENST00000611905.2	protein_coding		2081		chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)