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
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18982.hp2 NA19060.hp1 others(2): Show NA18965.hp1 NA18982.hp2 NA19060.hp1 NA19063.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0239 others(2): Show a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0003t0001g0231 a0001c0003t0001g0232	5	298	0.0168	23	c.510 others(40): Show c.510+1685_510+1707dupTTTTTTTTTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBR3_chr21_36130079_36151562	36142431	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	424	0.0024	23	c.398 others(40): Show c.398-3628_398-3627insAAAAAAAAAAAAAAAAAAAAAAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01099.hp2 others(28): Show HG00438.hp2 HG00621.hp2 HG01099.hp2 HG01106.hp1 HG01243.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02976.hp1 HG03139.hp1 HG03486.hp2 HG03579.hp2 HG03834.hp2 NA18522.hp2 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18960.hp2 NA18991.hp2 NA18993.hp2 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19080.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0004c0007 a0002c0002 a0004c0006 a0004c0007	a0002c0002t0001 a0004c0006t0001 a0004c0007t0001 a0002c0002t0001 a0004c0006t0001 a0004c0007t0001	a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0015 others(26): Show a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0078 a0002c0002t0001g0083 a0002c0002t0001g0089 a0002c0002t0001g0095 a0002c0002t0001g0112 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0134 a0002c0002t0001g0161 a0002c0002t0001g0163 a0004c0006t0001g0019 a0004c0006t0001g0137 a0004c0006t0001g0139 a0004c0006t0001g0140 a0004c0006t0001g0145 a0004c0006t0001g0148 a0004c0007t0001g0124 a0004c0007t0001g0147 a0004c0007t0001g0149 a0004c0007t0001g0150	31	424	0.0731	23	c.40 others(32): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		356		chr21	TogoVar
CBR3_chr21_36130079_36151562	36146919	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18939.hp2 NA18972.hp1 others(2): Show NA18747.hp2 NA18939.hp2 NA18972.hp1 NA18995.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0097 a0002c0002t0001g0101 others(2): Show a0002c0002t0001g0075 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0130	5	424	0.0118	23	c.40 others(32): Show c.407_*408insTTTTTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		358		chr21	TogoVar
CBX1_chr17_48065059_48106478	48105324	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	396	0.0025	23	c.-41 others(34): Show c.-4117_-4095dupAAAAAAAAAAAAAAAAAAAAAAA	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding		3847		chr17	TogoVar
CBX6_chr22_38856422_38877216	38872652	T T	TCTCCCGC others(16): Show TCTCCCGCAGCAGCCTGCAAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	406	0.0025	23	c.-46 others(32): Show c.-463_-462insCTGTTTGCAGGCTGCTGCGGGAG	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding		437		chr22	TogoVar
CC2D2B_chr10_95902975_96038745	95947082	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0208 a0005c0006t0001g0208	1	312	0.0032	23	c.802 others(40): Show c.802-2813_802-2812insAAAAAAAAAAAAAAAAAAAAATA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	9/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95947082	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0207 a0005c0006t0001g0207	1	312	0.0032	23	c.802 others(40): Show c.802-2813_802-2812insAAAAAAAAAAATATATATATATA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	9/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCBE1_chr18_59425939_59702423	59508711	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	242	0.0041	23	c.213 others(42): Show c.213-28474_213-28473insAAAAAAAAAAAAAAAAAAAAAAA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC102B_chr18_68793080_69060189	69009924	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0115 a0003c0011t0001g0115	1	216	0.0046	23	c.126 others(41): Show c.1264-1007_1264-985dupTTTTTTTTTTTTTTTTTTTTTTT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC110_chr4_185440182_185476733	185443343	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG03209.hp1 HG03942.hp2 HG00642.hp1 HG03209.hp1 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0075 a0002c0004t0001g0237 a0002c0004t0001g0239 a0002c0002t0001g0075 a0002c0004t0001g0237 a0002c0004t0001g0239	3	428	0.0070	23	c.21 others(34): Show c.2158_*2159insTATATATATATATATATATATAT	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1838		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185455206	T T	TGTAACCA others(16): Show TGTAACCATAATTTTGTAACCATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0002 a0019c0027t0002	a0019c0027t0002g0298 a0019c0027t0002g0298	1	428	0.0023	23	c.246 others(42): Show c.2461+2919_2461+2920insTATGGTTACAAAATTATGGTTAC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	6/6			chr4	TogoVar
CCDC125_chr5_69275175_69337801	69334820	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	341	0.0029	23	c.-22 others(34): Show c.-2213_-2212insTCTCTCTCTCTCTCTCTCTCTCT	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding		2020		chr5	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0328 a0001c0001t0001g0337 a0001c0001t0001g0338	3	354	0.0085	23	c.97- others(40): Show c.97-10734_97-10733insATATATATTTTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02300.hp1 others(3): Show HG01167.hp2 HG01169.hp1 HG02300.hp1 HG02965.hp1 HG03139.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0323 others(3): Show a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0334 a0001c0001t0002g0220 a0001c0001t0002g0263	6	354	0.0170	23	c.97- others(40): Show c.97-10734_97-10733insATATATATATTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01928.hp2 HG02109.hp2 others(3): Show HG01891.hp2 HG01928.hp2 HG02109.hp2 HG03540.hp2 NA18988.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0126 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0322	6	354	0.0170	23	c.97- others(40): Show c.97-10734_97-10733insATATATATATATTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01255.hp2 others(4): Show HG00639.hp1 HG01074.hp2 HG01255.hp2 HG01981.hp2 HG02027.hp1 HG02965.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0001g0069 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0002g0243	7	354	0.0198	23	c.97- others(40): Show c.97-10734_97-10733insATATATATATATATTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(16): Show AAAAAAAAAATATCCCATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG02451.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0049 a0001c0001t0001g0050	2	354	0.0057	23	c.97- others(40): Show c.97-10734_97-10733insATATATATGGGATATTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	354	0.0057	23	c.97- others(40): Show c.97-10734_97-10733insATATATATATATATATTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46979967	C C	CGCGCCCC others(16): Show CGCGCCCCGCGCCTGCTGCACCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	354	0.0028	23	c.-32 others(34): Show c.-3258_-3236dupCAGGTGCAGCAGGCGCGGGGCGC	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding		3223		chr3	TogoVar
CCDC134_chr22_41795679_41837164	41819963	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG06807.hp2 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0014 a0001c0001t0019	a0001c0001t0014g0053 a0001c0001t0019g0058 a0001c0001t0014g0053 a0001c0001t0019g0058	2	380	0.0053	23	c.565 others(40): Show c.565-5735_565-5734insATATATATATATATATATATATA	CCDC134	ENSG00000100147.14	transcript	ENST00000255784.6	protein_coding	6/6			chr22	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	380	0.0026	23	c.346 others(40): Show c.346+1972_346+1973insATATATATATATATATATATATT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC138_chr2_108781771_108881578	108811247	C C	CTCTTTTT others(16): Show CTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG03209.hp1 others(2): Show HG02572.hp1 HG02970.hp1 HG03209.hp1 HG03516.hp1 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0009 a0001c0004t0001g0012 a0001c0004t0001g0013 others(2): Show a0001c0004t0001g0009 a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0014 a0003c0003t0001g0184	5	220	0.0227	23	c.856 others(40): Show c.856-1383_856-1382insCTTTTTTTTTTTTTTTTTTTTTT	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC141_chr2_178824757_179055137	178870231	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01169.hp1 HG01261.hp2 others(2): Show HG00438.hp2 HG01169.hp1 HG01261.hp2 NA18954.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0006 a0001c0007 a0002c0006	a0001c0007t0082 a0001c0007t0083 a0002c0006t0007 a0001c0007t0082 a0001c0007t0083 a0002c0006t0007	a0001c0007t0082g0140 a0001c0007t0083g0146 a0002c0006t0007g0255 others(2): Show a0001c0007t0082g0140 a0001c0007t0083g0146 a0002c0006t0007g0255 a0002c0006t0007g0256 a0002c0006t0007g0260	5	274	0.0183	23	c.220 others(40): Show c.2206-949_2206-927dupTTTTTTTTTTTTTTTTTTTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	14/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	179027646	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	274	0.0037	23	c.225 others(42): Show c.225+19615_225+19637dupTTTTTTTTTTTTTTTTTTTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC142_chr2_74467832_74487998	74471814	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	370	0.0027	23	c.27 others(34): Show c.2731_*2732insTTTTTTTTTTTTTTTTTTTTTTT	CCDC142	ENSG00000135637.14	transcript	ENST00000393965.8	protein_coding		1017		chr2	TogoVar
CCDC144A_chr17_16685241_16782881	16718832	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0298 a0002c0002t0016g0298	1	318	0.0031	23	c.171 others(42): Show c.1716-1349_1716-1348insTTTTTTTTTTTTTTTTTTTTTTT	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC148_chr2_158166073_158461753	158406615	T T	TTTTTTTT others(16): Show TTTTTTTTCTGTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(28): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00733.hp1 HG01081.hp2 HG01167.hp1 HG01257.hp1 HG01261.hp1 HG01978.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG03654.hp1 NA18945.hp2 NA18951.hp2 NA18961.hp2 NA18966.hp1 NA18978.hp1 NA18992.hp2 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19080.hp2 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0016 a0001c0001 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0009	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0160 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0263 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0241 a0001c0001t0002g0248 a0001c0009t0001g0029 a0001c0009t0002g0031 a0001c0016t0009g0013	31	264	0.1174	23	c.26- others(40): Show c.26-48046_26-48045insCAAAAAAAAAAAACAGAAAAAAA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158406622	T T	TTCTGTTT others(16): Show TTCTGTTTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	264	0.0038	23	c.26- others(40): Show c.26-48053_26-48052insCAAAAACAAAAACAAAAAACAGA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158406622	T T	TTCTGTTT others(16): Show TTCTGTTTTTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01515.hp1 HG01517.hp2 others(18): Show HG01261.hp2 HG01515.hp1 HG01517.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0015 a0002c0002 others(2): Show a0001c0001 a0001c0015 a0002c0002 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0015t0003 a0002c0002t0002 a0003c0004t0002 a0004c0003t0002	a0001c0001t0001g0102 a0001c0001t0001g0131 a0001c0001t0001g0132 others(18): Show a0001c0001t0001g0102 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0219 a0001c0001t0002g0136 a0001c0001t0003g0065 a0001c0001t0003g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0134 a0001c0001t0004g0220 a0001c0015t0003g0085 a0002c0002t0002g0264 a0003c0004t0002g0122 a0003c0004t0002g0123 a0004c0003t0002g0141	21	264	0.0796	23	c.26- others(40): Show c.26-48053_26-48052insCAAAAACAAAAAAAAAAAACAGA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA21309.hp2 HG03195.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0093 a0001c0001t0001g0094	2	264	0.0076	23	c.25+ others(40): Show c.25+23323_25+23324insATATATATATATTTTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC149_chr4_24798514_24918042	24893613	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG03688.hp1 others(2): Show HG00423.hp2 HG00597.hp2 HG03688.hp1 NA18991.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022	a0001c0001t0002g0293 a0001c0001t0008g0033 a0001c0001t0011g0255 others(2): Show a0001c0001t0002g0293 a0001c0001t0008g0033 a0001c0001t0011g0255 a0001c0001t0015g0328 a0001c0001t0022g0030	5	354	0.0141	23	c.49- others(40): Show c.49-16917_49-16916insAAAAAAAAAAAAAAAAAAAAAAA	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12			chr4	TogoVar
CCDC171_chr9_15548043_15979037	15610444	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02080.hp2 NA18986.hp2 others(1): Show HG01433.hp2 HG02080.hp2 NA18986.hp2 NA19054.hp2	a0002 a0009 a0020 a0002 a0009 a0020	a0002c0002 a0009c0012 a0020c0017 a0002c0002 a0009c0012 a0020c0017	a0002c0002t0002 a0009c0012t0002 a0020c0017t0001 a0002c0002t0002 a0009c0012t0002 a0020c0017t0001	a0002c0002t0002g0090 a0002c0002t0002g0122 a0009c0012t0002g0112 others(1): Show a0002c0002t0002g0090 a0002c0002t0002g0122 a0009c0012t0002g0112 a0020c0017t0001g0079	4	266	0.0150	23	c.676 others(42): Show c.676-12808_676-12786dupAAAAAAAAAAAAAAAAAAAAAAA	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15677788	T T	TATATGTG others(16): Show TATATGTGTGTATATATATATGAG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19080.hp2 NA18993.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0010g0220 a0001c0001t0010g0221	2	266	0.0075	23	c.107 others(40): Show c.1077-969_1077-968insTATGTGTGTATATATATATGAGA	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	9/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC175_chr14_59500067_59581812	59502753	T T	TTTGTTTT others(16): Show TTTGTTTTTTTTTCTTTGTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01175.hp2 NA18940.hp2 others(9): Show HG00544.hp1 HG01175.hp2 NA18940.hp2 NA18964.hp1 NA18981.hp1 NA18982.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0041 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130	12	294	0.0408	23	c.24 others(34): Show c.2485_*2486insCAAAAACAAAGAAAAAAAAACAA	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding		2313		chr14	TogoVar
CCDC175_chr14_59500067_59581812	59511548	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0147 a0004c0006t0001g0147	1	294	0.0034	23	c.214 others(40): Show c.2142+211_2142+212insTTTTTTTTTTTTTTTTTTTTTTT	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding	18/19			chr14	TogoVar
CCDC177_chr14_69564799_69579871	69577856	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	23	c.-33 others(34): Show c.-3344_-3343insTTTTTTTTTTTTTTTTTTTTTTT	CCDC177	ENSG00000267909.3	transcript	ENST00000599174.3	protein_coding		2986		chr14	TogoVar
CCDC179_chr11_22841922_22865474	22850968	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	446	0.0022	23	c.196 others(40): Show c.196-3448_196-3447insAAAAAAAAAAAAAAAAAAAAAAA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18954.hp2 NA20805.hp1 HG00609.hp2 NA18954.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0226 a0002c0002t0002g0059 a0002c0002t0002g0226	3	446	0.0067	23	c.196 others(40): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAATATATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02055.hp1 NA18944.hp1 HG00438.hp2 HG02055.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0251 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0251	3	446	0.0067	23	c.196 others(40): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAAAATATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19079.hp2 HG02083.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	2	446	0.0045	23	c.196 others(40): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAAAAAATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC191_chr3_113959137_114061526	114006615	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	380	0.0026	23	c.141 others(40): Show c.1414-654_1414-653insTATATATATATATATATATATAT	CCDC191	ENSG00000163617.11	transcript	ENST00000295878.8	protein_coding	9/16			chr3	TogoVar
CCDC192_chr5_127698391_127946507	127800376	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	234	0.0043	23	c.411 others(40): Show c.411+2217_411+2239dupAAAAAAAAAAAAAAAAAAAAAAA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127884342	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01257.hp1 HG02273.hp1 HG00738.hp2 HG01257.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0077 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0077	3	234	0.0128	23	c.535 others(40): Show c.535+8686_535+8708dupAAAAAAAAAAAAAAAAAAAAAAA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127918216	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	234	0.0043	23	c.536 others(42): Show c.536-22947_536-22946insAAAAAAAAAAAAAAAAAAAAAAA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC194_chr19_17382196_17399196	17382272	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0041 a0001c0001t0024g0041	1	414	0.0024	23	c.82 others(34): Show c.8236_*8237insCTTTCTTTCTTTCTTTCTTTCTT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4923		chr19	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAAAGAAG others(16): Show AAAAGAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0101 a0001c0001t0043g0101	1	414	0.0024	23	c.82 others(34): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTCTTT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG01069.hp1 others(20): Show HG00558.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01516.hp1 HG01516.hp2 HG02451.hp1 HG02523.hp2 HG02738.hp1 HG02896.hp2 HG03195.hp1 HG03516.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp2 NA18946.hp2 NA18955.hp2 NA18984.hp2 NA19060.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0049 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0049 a0002c0002t0002 a0002c0002t0009 a0002c0002t0025 a0002c0002t0032 a0002c0002t0044	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0045 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0049g0118 a0002c0002t0002g0004 a0002c0002t0009g0036 a0002c0002t0025g0082 a0002c0002t0032g0094 a0002c0002t0044g0066	23	414	0.0556	23	c.82 others(34): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTCTT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC195_chr2_224698764_224721365	224705857	T T	TCTAAATA others(16): Show TCTAAATAGTTCATTAGTTGGCAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0168 a0001c0001t0000g0168	1	412	0.0024	23	c.483 others(40): Show c.483-1993_483-1971dupCTGCCAACTAATGAACTATTTAG	CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding	2/2			chr2	TogoVar
CCDC196_chr14_66481371_66503553	66484176	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	23	c.-23 others(34): Show c.-2327_-2326insAAAAAAAATATATATATATATAT	CCDC196	ENSG00000196553.15	transcript	ENST00000636229.1	protein_coding		2194		chr14	TogoVar

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