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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⚠️ 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
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG03516.hp1 others(2): Show HG01884.hp2 HG02572.hp1 HG03516.hp1 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0101 a0001c0001t0005g0005 a0001c0001t0005g0006 others(2): Show a0001c0001t0001g0101 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0002t0002g0130 a0001c0002t0002g0260	5	271	0.0185	26	c.128 others(45): Show c.1288-1544_1288-1543insATATATATATATATATATATATATAT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0079 a0004c0003t0001g0079	1	336	0.0030	26	c.-44 others(37): Show c.-4479_-4478insATATATATATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02273.hp2 NA18964.hp1 HG01192.hp2 HG02273.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0304 a0002c0002t0001g0209 a0002c0002t0001g0259 a0001c0001t0001g0304 a0002c0002t0001g0209 a0002c0002t0001g0259	3	336	0.0089	26	c.142 others(45): Show c.1428-1156_1428-1155insATATATATATATATATATATTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03195.hp1 HG03710.hp2 HG02683.hp1 HG03195.hp1 HG03710.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0177 a0003c0004t0001g0149 a0003c0004t0001g0158 a0001c0001t0001g0177 a0003c0004t0001g0149 a0003c0004t0001g0158	3	336	0.0089	26	c.142 others(45): Show c.1428-1156_1428-1155insATATATATATATATATATTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19089.hp1 HG03669.hp2 NA19089.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0001 a0002c0002t0001 a0003c0004t0001	a0002c0002t0001g0187 a0003c0004t0001g0199 a0002c0002t0001g0187 a0003c0004t0001g0199	2	336	0.0060	26	c.142 others(45): Show c.1428-1156_1428-1155insATATATATATATATATTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	336	0.0030	26	c.142 others(45): Show c.1428-1156_1428-1155insATATATATATATATTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01258.hp2 others(12): Show HG00323.hp1 HG00323.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01993.hp1 HG02004.hp1 HG02897.hp1 HG02922.hp1 HG03704.hp1 HG03704.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA19074.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0014 a0017	a0001c0001 a0002c0002 a0004c0003 others(2): Show a0001c0001 a0002c0002 a0004c0003 a0014c0017 a0017c0014	a0001c0001t0005 a0002c0002t0001 a0002c0002t0003 others(4): Show a0001c0001t0005 a0002c0002t0001 a0002c0002t0003 a0004c0003t0001 a0004c0003t0003 a0014c0017t0002 a0017c0014t0002	a0001c0001t0005g0142 a0002c0002t0001g0037 a0002c0002t0001g0049 others(12): Show a0001c0001t0005g0142 a0002c0002t0001g0037 a0002c0002t0001g0049 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0119 a0002c0002t0001g0236 a0002c0002t0001g0250 a0002c0002t0001g0258 a0002c0002t0003g0070 a0004c0003t0001g0110 a0004c0003t0001g0245 a0004c0003t0003g0075 a0014c0017t0002g0224 a0017c0014t0002g0011	15	336	0.0446	26	c.150 others(43): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244489450	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG02723.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0087 a0001c0003t0002g0083 a0001c0003t0001g0087 a0001c0003t0002g0083	2	206	0.0097	26	c.327 others(41): Show c.327-991_327-966dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553614	C C	CACACACA others(19): Show CACACACACACACACACATATATACAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG03540.hp1 HG02886.hp2 HG03098.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0002 a0001c0003t0001 a0001c0006t0002	a0001c0003t0001g0044 a0001c0006t0002g0084 a0001c0006t0002g0085 a0001c0003t0001g0044 a0001c0006t0002g0084 a0001c0006t0002g0085	3	206	0.0146	26	c.102 others(43): Show c.1029+817_1029+818insTATATACATACACACACACACACACA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553616	C C	CACACACA others(19): Show CACACACACACACACACATATATACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp2 HG01884.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0019 a0001c0003 a0001c0019	a0001c0003t0002 a0001c0019t0004 a0001c0003t0002 a0001c0019t0004	a0001c0003t0002g0014 a0001c0019t0004g0175 a0001c0003t0002g0014 a0001c0019t0004g0175	2	206	0.0097	26	c.102 others(43): Show c.1029+819_1029+820insTATATACATACACACACACACACACA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625406	T T	TAATATAT others(19): Show TAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	206	0.0049	26	c.264 others(45): Show c.2648+7720_2648+7721insAATATATATATATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0019 a0001c0013t0002g0019	1	206	0.0049	26	c.264 others(45): Show c.2648+7747_2648+7748insATATATATATATATATTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0077 a0004c0023t0001g0077	1	206	0.0049	26	c.264 others(45): Show c.2648+7747_2648+7748insATATATATATATTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp1 HG03130.hp1 HG02258.hp1 HG02896.hp1 HG03130.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0009 a0001c0001 a0001c0003 a0004c0009	a0001c0001t0002 a0001c0003t0001 a0004c0009t0002 a0001c0001t0002 a0001c0003t0001 a0004c0009t0002	a0001c0001t0002g0002 a0001c0003t0001g0089 a0004c0009t0002g0078 a0001c0001t0002g0002 a0001c0003t0001g0089 a0004c0009t0002g0078	3	206	0.0146	26	c.264 others(45): Show c.2648+7747_2648+7748insATATATATATTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344882	C C	CACACACA others(19): Show CACACACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0099 a0003c0004t0001g0099	1	376	0.0027	26	c.669 others(41): Show c.669+515_669+516insCACACACACACACACACATATATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	342	0.0029	26	c.195 others(43): Show c.195+7707_195+7708insATATATATATATATATATTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03471.hp2 HG00673.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0002g0167 a0001c0001t0001g0121 a0001c0001t0002g0167	2	342	0.0059	26	c.195 others(43): Show c.195+7707_195+7708insATATATATATATATATTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18962.hp1 HG02717.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0123 a0001c0001t0002g0218 a0001c0001t0001g0123 a0001c0001t0002g0218	2	342	0.0059	26	c.195 others(43): Show c.195+7707_195+7708insATATATATATATATTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	342	0.0029	26	c.195 others(43): Show c.195+7707_195+7708insATATATATATATTTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498910	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	26	c.-87 others(35): Show c.-872_-871insCACACACACACACACACACACACACA	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		827		chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(35): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00733.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02132.hp1 HG02615.hp2 HG03017.hp2 HG03041.hp1 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03942.hp1 HG04228.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18985.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19077.hp1 NA19082.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0003t0001 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0025 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0006g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0018g0001 a0001c0001t0019g0001 a0001c0001t0023g0001 a0001c0003t0001g0001 a0001c0003t0001g0047 a0002c0002t0004g0004	38	374	0.1016	26	c.-85 others(35): Show c.-859_-858insACACACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CAV3_chr3_8728802_8751758	8746799	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03098.hp2 HG03540.hp2 HG02559.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0020 a0001c0006t0004g0070 a0001c0006t0004g0174 a0001c0006t0004g0020 a0001c0006t0004g0070 a0001c0006t0004g0174	3	476	0.0063	26	c.93 others(35): Show c.932_*933insCACACACACACACACACACACACACA	CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding		42		chr3	TogoVar
CAVIN1_chr17_42397449_42428256	42401707	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	338	0.0030	26	c.29 others(37): Show c.2979_*2980insCTTTCTTTCTTTCTTTCTTTCTTTCT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding		741		chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42411192	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	338	0.0030	26	c.472 others(43): Show c.472-5805_472-5804insTTTTTTTTTTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02723.hp2 NA19075.hp1 HG02300.hp2 HG02723.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0001t0001 a0001c0001t0007 a0001c0003t0001	a0001c0001t0001g0238 a0001c0001t0007g0011 a0001c0003t0001g0230 a0001c0001t0001g0238 a0001c0001t0007g0011 a0001c0003t0001g0230	3	298	0.0101	26	c.510 others(43): Show c.510+1682_510+1707dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88888503	A A	AGGGGTGG others(19): Show AGGGGTGGGGTGGGGTTGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0232 a0001c0001t0031g0232	1	284	0.0035	26	c.712 others(43): Show c.712-2362_712-2361insACCCCTCCCCAACCCCACCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01346.hp1 HG01943.hp1 others(1): Show HG00673.hp2 HG01346.hp1 HG01943.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0033 a0002c0002t0001g0110 a0002c0002t0001g0010 a0002c0002t0001g0033 a0002c0002t0001g0110	4	424	0.0094	26	c.40 others(35): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		356		chr21	TogoVar
CBR3_chr21_36130079_36151562	36146919	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp2 HG03540.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0152 a0002c0002t0001g0136 a0002c0002t0001g0152	2	424	0.0047	26	c.40 others(35): Show c.407_*408insTTTTTTTTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		358		chr21	TogoVar
CC2D1A_chr19_13901201_13935879	13925996	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	370	0.0027	26	c.194 others(43): Show c.1941-519_1941-494dupGTGTATATATATATATACGTATATAT	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926030	A A	ATATATAT others(19): Show ATATATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02622.hp2 NA18994.hp1 others(2): Show HG01099.hp2 HG02622.hp2 NA18994.hp1 NA19030.hp1 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0128 a0002c0007t0001g0048 a0002c0007t0001g0083	5	370	0.0135	26	c.194 others(43): Show c.1941-475_1941-474insCGTATATATATGTGTATATATATATA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926045	C C	CGTATATA others(19): Show CGTATATATATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	370	0.0027	26	c.194 others(43): Show c.1941-472_1941-471insGTATATATATGTATATATATATATAT	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28			chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926308	G G	GAAAAGAC others(19): Show GAAAAGACTCGAAAGTGATCCATTGCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	370	0.0027	26	c.194 others(43): Show c.1941-206_1941-181dupAAGACTCGAAAGTGATCCATTGCCAA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D2B_chr10_95902975_96038745	95926840	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01934.hp2 HG00558.hp2 HG01934.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0044 a0002c0002t0001g0039 a0001c0001t0001g0044 a0002c0002t0001g0039	2	312	0.0064	26	c.241 others(41): Show c.241-390_241-389insGTGTGTGTGTGTGTGTGTCTGTGTGT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96003021	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0027 a0027	a0027c0037 a0027c0037	a0027c0037t0001 a0027c0037t0001	a0027c0037t0001g0021 a0027c0037t0001g0021	1	312	0.0032	26	c.285 others(45): Show c.2850-1108_2850-1107insTATATATATATATATATATATATATA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	24/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCAR2_chr8_22599757_22625471	22611394	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	376	0.0027	26	c.585 others(43): Show c.585-1612_585-1611insGTGTGTGTGTGTGTATGTGTGTGTGT	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG06807.hp2 others(1): Show HG01261.hp1 HG01261.hp2 HG06807.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0021 a0001c0001t0026	a0001c0001t0001g0069 a0001c0001t0015g0085 a0001c0001t0021g0079 others(1): Show a0001c0001t0001g0069 a0001c0001t0015g0085 a0001c0001t0021g0079 a0001c0001t0026g0148	4	242	0.0165	26	c.213 others(45): Show c.213-93047_213-93046insATATATATATATATATATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59595114	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	242	0.0041	26	c.212 others(47): Show c.212+101514_212+101515insTTTTTTTTTTTTTTTTTTTTTTTT TT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC102B_chr18_68793080_69060189	69009924	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02647.hp2 HG06807.hp2 others(5): Show HG02135.hp1 HG02647.hp2 HG06807.hp2 NA18975.hp2 NA18981.hp2 NA19001.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0005 a0002c0009	a0001c0001t0006 a0001c0003t0001 a0001c0007t0001 others(3): Show a0001c0001t0006 a0001c0003t0001 a0001c0007t0001 a0002c0002t0001 a0002c0005t0001 a0002c0009t0001	a0001c0001t0006g0016 a0001c0003t0001g0026 a0001c0007t0001g0049 others(5): Show a0001c0001t0006g0016 a0001c0003t0001g0026 a0001c0007t0001g0049 a0001c0007t0001g0177 a0001c0007t0001g0214 a0002c0002t0001g0061 a0002c0005t0001g0198 a0002c0009t0001g0111	8	216	0.0370	26	c.126 others(43): Show c.1264-985_1264-984insTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	69014978	A A	AGAGTGTG others(19): Show AGAGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18988.hp1 NA19011.hp1 others(1): Show NA18981.hp2 NA18988.hp1 NA19011.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0005 a0001c0007 a0002c0005	a0001c0007t0001 a0002c0005t0001 a0001c0007t0001 a0002c0005t0001	a0001c0007t0001g0214 a0002c0005t0001g0040 a0002c0005t0001g0041 others(1): Show a0001c0007t0001g0214 a0002c0005t0001g0040 a0002c0005t0001g0041 a0002c0005t0001g0042	4	216	0.0185	26	c.143 others(45): Show c.1434+3875_1434+3876insAGTGTGTGTGTGTGTGTGTGTGTGTG	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01255.hp1 HG03927.hp2 others(8): Show HG00558.hp1 HG01255.hp1 HG03927.hp2 NA18953.hp2 NA18959.hp2 NA18969.hp2 NA18988.hp2 NA19070.hp1 NA19080.hp2 NA19084.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0001 a0007c0008t0001 a0002c0002t0001 a0007c0008t0001	a0002c0002t0001g0011 a0002c0002t0001g0234 a0002c0002t0001g0236 others(7): Show a0002c0002t0001g0011 a0002c0002t0001g0234 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0243 a0002c0002t0001g0252 a0007c0008t0001g0011 a0007c0008t0001g0169 a0007c0008t0001g0171 a0007c0008t0001g0226	11	440	0.0250	26	c.676 others(43): Show c.676-1742_676-1741insATATATATATATATATATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18959.hp2 NA19002.hp1 others(1): Show NA18952.hp2 NA18959.hp2 NA19002.hp1 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0113 a0002c0002t0001g0114 others(1): Show a0002c0002t0001g0103 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0175	4	428	0.0094	26	c.21 others(37): Show c.2159_*2160insAAAAAAAAAAAAAAAATATATATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(19): Show ATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	428	0.0023	26	c.21 others(37): Show c.2159_*2160insAAAAAAAAAAAAAAAAAATATATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC113_chr16_58244936_58288836	58257014	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0035 a0003c0003t0035	a0003c0003t0035g0114 a0003c0003t0035g0114	1	378	0.0027	26	c.391 others(43): Show c.391-1333_391-1332insTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC113	ENSG00000103021.10	transcript	ENST00000219299.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC122_chr13_43831352_43884740	43879817	G G	GCGGGGCG others(19): Show GCGGGGCGGGGCGAGGCGGGGCGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	442	0.0023	26	c.-38 others(35): Show c.-387_-386insGCCTCGCCCCGCCTCGCCCCGCCCCG	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		78		chr13	TogoVar
CCDC125_chr5_69275175_69337801	69334793	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	341	0.0029	26	c.-21 others(37): Show c.-2186_-2185insTCTCTCTCTCTCTCTCTCTCTCTCTC	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding		1993		chr5	TogoVar
CCDC125_chr5_69275175_69337801	69334793	G G	GGAGAGAG others(19): Show GGAGAGAGGGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	341	0.0029	26	c.-21 others(37): Show c.-2186_-2185insTCTCTCTCTCTCTCTCTCCCTCTCTC	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding		1993		chr5	TogoVar
CCDC127_chr5_191868_223153	196675	C C	CCGAGTGT others(19): Show CCGAGTGTGTCCCCACGTCACCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	406	0.0025	26	c.86 others(37): Show c.8621_*8622insAGTGGGGTGACGTGGGGACACACTCG	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding		192		chr5	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	354	0.0028	26	c.97- others(43): Show c.97-10734_97-10733insATATATATATTTTTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	354	0.0028	26	c.97- others(43): Show c.97-10734_97-10733insATATATATATATATTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18940.hp1 HG04199.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0002g0199 a0001c0001t0001g0064 a0001c0001t0002g0199	2	354	0.0057	26	c.97- others(43): Show c.97-10734_97-10733insATATATATATATATATTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar

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