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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CNBD1_chr8_86861415_87387859	87307747	A A	AAAATTAT others(8): Show AAAATTATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	152	0.0066	15	c.104 others(36): Show c.1042+21076_1042+21077insAAATTATATATATAT		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	8/10						chr8	TogoVar
CNBD1_chr8_86861415_87387859	87368161	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0040 a0001c0006t0001g0040	1	152	0.0066	15	c.130 others(36): Show c.1303+14388_1303+14402dupAAGAAAAGAAAAGAA		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD2_chr20_35963590_36035700	36014182	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG02109.hp1 others(10): Show HG01243.hp1 HG01361.hp1 HG02109.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp2 HG02976.hp2 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA19030.hp2 NA19043.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0001c0004 a0007c0019 others(1): Show a0001c0001 a0001c0004 a0007c0019 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0007c0019t0002 a0010c0016t0002	a0001c0001t0001g0117 a0001c0001t0001g0231 a0001c0001t0002g0082 others(10): Show a0001c0001t0001g0117 a0001c0001t0001g0231 a0001c0001t0002g0082 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0004t0002g0021 a0001c0004t0002g0066 a0001c0004t0002g0100 a0007c0019t0002g0125 a0010c0016t0002g0067	13	268	0.0485	15	c.126 others(34): Show c.1269+2938_1269+2939insAAAAAAAAAAAAAAA		CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
CNBD2_chr20_35963590_36035700	36028685	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG04199.hp2 NA18952.hp2 others(4): Show HG02723.hp2 HG04199.hp2 NA18952.hp2 NA18979.hp2 NA19003.hp2 NA19060.hp1 NA19067.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0011 a0002c0002t0001g0076 a0002c0002t0001g0078 others(4): Show a0001c0001t0001g0011 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0092 a0002c0002t0001g0240 a0002c0002t0001g0246 a0003c0003t0001g0087	7	268	0.0261	15	c.144 others(34): Show c.1440-1664_1440-1663insTTTTTTTTTTTTTTT		CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
CNBP_chr3_129162827_129188896	129181239	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19055.hp2 NA19066.hp2 HG02015.hp2 NA19055.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0013 a0001c0002t0005 a0001c0002t0013	a0001c0002t0005g0338 a0001c0002t0005g0339 a0001c0002t0013g0351 a0001c0002t0005g0338 a0001c0002t0005g0339 a0001c0002t0013g0351	3	430	0.0070	15	c.-15 others(32): Show c.-15+2522_-15+2536dupTTTTTTTTTTTTTTT		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNBP_chr3_129162827_129188896	129181649	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(130): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG03098.hp1 HG03490.hp1 HG03491.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(110): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0003g0014 a0001c0001t0003g0086 a0001c0001t0003g0109 a0001c0001t0003g0182 a0001c0001t0003g0260 a0001c0001t0003g0266 a0001c0001t0004g0065 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0122 a0001c0001t0006g0012 a0001c0001t0006g0040 a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0111 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0007g0006 a0001c0001t0007g0030 a0001c0001t0007g0062 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0080 a0001c0001t0007g0101 a0001c0001t0010g0081 a0001c0001t0010g0083 a0001c0001t0014g0048 a0001c0001t0014g0050 a0001c0001t0014g0120 a0001c0001t0021g0106 a0001c0001t0024g0113 a0001c0001t0031g0035 a0001c0001t0032g0045	133	430	0.3093	15	c.-15 others(32): Show c.-15+2126_-15+2127insTTTTTTTTTTTTTTT		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNBP_chr3_129162827_129188896	129181655	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00738.hp2 others(37): Show HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01346.hp2 HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0037	a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0001g0186 others(30): Show a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0001g0186 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0200 a0001c0002t0001g0206 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0205 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0214 a0001c0002t0003g0369 a0001c0002t0004g0187 a0001c0002t0004g0199 a0001c0002t0004g0204 a0001c0002t0004g0207 a0001c0002t0004g0217 a0001c0002t0037g0198	40	430	0.0930	15	c.-15 others(32): Show c.-15+2120_-15+2121insCTTTTTTTTTTTTTT		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNDP1_chr18_74529500_74592212	74535580	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00621.hp1 others(50): Show HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00673.hp1 HG01099.hp2 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG06807.hp1 NA18964.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19057.hp1 NA19057.hp2 NA19066.hp2 NA19085.hp1 NA19088.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0015	a0001c0001 a0001c0002 a0002c0003 others(8): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0013 a0003c0005 a0003c0006 a0004c0015 a0005c0007 a0008c0011 a0015c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0021 a0001c0001t0038 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0013 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0040 a0002c0004t0001 a0002c0004t0002 a0002c0013t0001 a0002c0013t0002 a0003c0005t0001 a0003c0005t0003 a0003c0005t0009 a0003c0006t0001 a0003c0006t0008 a0004c0015t0007 a0005c0007t0002 a0005c0007t0005 a0008c0011t0002 a0015c0046t0002	a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0348 others(50): Show a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0325 a0001c0001t0002g0345 a0001c0001t0003g0306 a0001c0001t0003g0349 a0001c0001t0004g0311 a0001c0001t0005g0347 a0001c0001t0009g0340 a0001c0001t0014g0308 a0001c0001t0021g0330 a0001c0001t0038g0332 a0001c0002t0001g0337 a0001c0002t0001g0339 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0003g0315 a0001c0002t0003g0350 a0001c0002t0006g0316 a0001c0002t0008g0326 a0001c0002t0013g0317 a0002c0003t0001g0063 a0002c0003t0001g0305 a0002c0003t0001g0323 a0002c0003t0001g0354 a0002c0003t0002g0355 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0004g0319 a0002c0003t0040g0352 a0002c0004t0001g0346 a0002c0004t0002g0320 a0002c0004t0002g0336 a0002c0013t0001g0313 a0002c0013t0002g0333 a0003c0005t0001g0327 a0003c0005t0001g0338 a0003c0005t0001g0351 a0003c0005t0003g0304 a0003c0005t0003g0318 a0003c0005t0009g0331 a0003c0006t0001g0341 a0003c0006t0008g0342 a0004c0015t0007g0324 a0005c0007t0002g0307 a0005c0007t0005g0334 a0008c0011t0002g0328 a0008c0011t0002g0329 a0015c0046t0002g0335	53	390	0.1359	15	c.24+ others(28): Show c.24+903_24+904insTTTTTTTTTTTTTTT		CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNGA2_chrX_151729746_151750564	151738499	A A	AATGGTGT others(8): Show AATGGTGTGAAGAGCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18974.hp1 NA18974.hp1	a0017 a0017	a0017c0013 a0017c0013	a0017c0013t0001 a0017c0013t0001	a0017c0013t0001g0034 a0017c0013t0001g0034	1	336	0.0030	15	c.17_ others(20): Show c.17_31dupATGGTGTGAAGAGCT	p.Ser others(26): Show p.Ser10_Ser11insTyrGlyValLysSer	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	2/7	256/3285	32/1995	11/664		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA4_chr11_6234089_6249479	6247043	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA18612.hp1 NA19010.hp2 others(1): Show HG03041.hp2 NA18612.hp1 NA19010.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	4	412	0.0097	15	c.26 others(26): Show c.2634_*2635insAAAAAAAAAAAAAAA		CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding					2565		chr11	TogoVar
CNGB1_chr16_57877340_57976128	57885557	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0201 a0001c0003t0002g0201	1	360	0.0028	15	c.346 others(34): Show c.3463-1101_3463-1100insAGAGAGAGAGAGAGA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32						chr16	TogoVar
CNGB1_chr16_57877340_57976128	57885595	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0012 a0002c0006t0003g0012	1	360	0.0028	15	c.346 others(34): Show c.3463-1139_3463-1138insGAGAGAGAGAGAGAG		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32						chr16	TogoVar
CNIH3_chr1_224611317_224745554	224698982	A A	AGACTCGG others(8): Show AGACTCGGAGGGCTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(150): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030	a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0001g0038 others(145): Show a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0286 a0001c0001t0001g0334 a0001c0001t0002g0001 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0236 a0001c0001t0003g0006 a0001c0001t0003g0170 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0337 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0095 a0001c0001t0005g0226 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0013g0016 a0001c0001t0013g0017 a0001c0001t0015g0010 a0001c0001t0015g0011 a0001c0001t0016g0199 a0001c0001t0017g0201 a0001c0001t0020g0109 a0001c0001t0021g0254 a0001c0001t0022g0074 a0001c0001t0024g0247 a0001c0001t0025g0132 a0001c0001t0028g0262 a0001c0001t0030g0026	153	358	0.4274	15	c.198 others(34): Show c.198+14141_198+14142insCTCGGAGGGCTATGA		CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNKSR2_chrX_21369418_21659689	21452753	C C	CTTATTTT others(8): Show CTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0159 a0001c0001t0006g0159	1	163	0.0061	15	c.519 others(34): Show c.519+12025_519+12039dupATTTTATTTTATTTT		CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	4/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154415227	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG02300.hp2 others(1): Show HG01496.hp1 HG02109.hp2 HG02300.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0069 a0001c0002t0022 a0001c0002t0069	a0001c0002t0022g0251 a0001c0002t0022g0288 a0001c0002t0022g0289 others(1): Show a0001c0002t0022g0251 a0001c0002t0022g0288 a0001c0002t0022g0289 a0001c0002t0069g0016	4	342	0.0117	15	c.946 others(30): Show c.946-805_946-804insAAAAAAAAAAAAAAA		CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12						chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154415228	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0162 a0001c0002t0162	a0001c0002t0162g0297 a0001c0002t0162g0297	1	342	0.0029	15	c.946 others(30): Show c.946-820_946-806dupAAAAAAAAAAAAAAA		CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12						chr6	TogoVar
CNN1_chr19_11533851_11555323	11543463	T T	TATAATAA others(8): Show TATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01106.hp1 others(5): Show HG00735.hp1 HG01099.hp2 HG01106.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0009 a0001c0003t0003g0064 a0001c0003t0003g0090 others(1): Show a0001c0003t0003g0009 a0001c0003t0003g0064 a0001c0003t0003g0090 a0001c0003t0003g0091	8	392	0.0204	15	c.185 others(32): Show c.185+2280_185+2294dupTAATAATAATAATAA		CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1025180	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02083.hp1 HG03704.hp1 others(2): Show HG00438.hp2 HG02083.hp1 HG03704.hp1 NA18944.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0004 a0001c0005t0008 a0001c0002t0004 a0001c0005t0008	a0001c0002t0004g0046 a0001c0005t0008g0011 a0001c0005t0008g0012 a0001c0002t0004g0046 a0001c0005t0008g0011 a0001c0005t0008g0012	5	390	0.0128	15	c.-14 others(26): Show c.-1482_-1481insAAAATAAAATAAAAT		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding					1427		chr19	TogoVar
CNNM2_chr10_102913294_103095222	102976611	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0247 a0001c0002t0071g0247	1	270	0.0037	15	c.162 others(36): Show c.1621+56524_1621+56538dupTTTTTTTTTTTTTTT		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102992273	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02976.hp2 NA19007.hp2 HG02683.hp2 HG02976.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0029 a0001c0002t0064 a0001c0002t0006 a0001c0002t0029 a0001c0002t0064	a0001c0002t0006g0213 a0001c0002t0029g0204 a0001c0002t0064g0248 a0001c0002t0006g0213 a0001c0002t0029g0204 a0001c0002t0064g0248	3	270	0.0111	15	c.162 others(36): Show c.1622-57430_1622-57416dupTTTTTTTTTTTTTTT		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103017963	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02027.hp2 HG02647.hp2 others(2): Show HG01981.hp1 HG02027.hp2 HG02647.hp2 NA18994.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0003 a0001c0002t0062 a0001c0001t0008 a0001c0002t0003 a0001c0002t0062	a0001c0001t0008g0250 a0001c0002t0003g0227 a0001c0002t0003g0232 others(2): Show a0001c0001t0008g0250 a0001c0002t0003g0227 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0062g0222	5	270	0.0185	15	c.162 others(36): Show c.1622-31740_1622-31726dupAAAAAAAAAAAAAAA		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103034972	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02523.hp1 HG02622.hp2 others(1): Show HG02145.hp1 HG02523.hp1 HG02622.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0027 a0001c0002t0054 others(1): Show a0001c0002t0006 a0001c0002t0027 a0001c0002t0054 a0001c0002t0063	a0001c0002t0006g0208 a0001c0002t0027g0266 a0001c0002t0054g0193 others(1): Show a0001c0002t0006g0208 a0001c0002t0027g0266 a0001c0002t0054g0193 a0001c0002t0063g0270	4	270	0.0148	15	c.162 others(36): Show c.1622-14731_1622-14717dupAAAAAAAAAAAAAAA		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103087140	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01517.hp1 NA18612.hp1 HG01517.hp1 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0094 a0002c0004t0057 a0001c0001t0094 a0002c0004t0057	a0001c0001t0094g0081 a0002c0004t0057g0202 a0001c0001t0094g0081 a0002c0004t0057g0202	2	270	0.0074	15	c.99 others(26): Show c.9978_*9992dupTTTTTTTTTTTTTTT		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	8/8				9993	INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT10_chr3_32680188_32778875	32687439	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	354	0.0028	15	c.22+ others(30): Show c.22+1968_22+1969insGTTTTTTTTTTTTTT		CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32725927	A A	AGTTTTGT others(8): Show AGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02717.hp1 HG00558.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0326 a0001c0001t0001g0155 a0001c0001t0001g0326	2	354	0.0057	15	c.101 others(32): Show c.1012+350_1012+364dupTTTTGTTTTGTTTTG		CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58516124	T T	TAGGGCGG others(8): Show TAGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0290 a0001c0004t0006g0291 a0001c0004t0006g0290 a0001c0004t0006g0291	2	308	0.0065	15	c.48 others(26): Show c.4833_*4834insGCCCCGCCCCGCCCT		CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding					3826		chr16	TogoVar
CNOT1_chr16_58514951_58634826	58516124	T T	TGGGGCGG others(8): Show TGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00639.hp2 others(11): Show HG00099.hp2 HG00597.hp1 HG00639.hp2 HG00738.hp2 HG01123.hp1 HG02257.hp2 HG03098.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG04115.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0021 a0001c0001 a0001c0004 a0001c0021	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0021t0004	a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0188 others(11): Show a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0244 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0004t0001g0280 a0001c0004t0001g0293 a0001c0004t0001g0297 a0001c0021t0004g0037	14	308	0.0455	15	c.48 others(26): Show c.4819_*4833dupGCCCCGCCCCGCCCC		CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding					3826		chr16	TogoVar
CNOT1_chr16_58514951_58634826	58516148	G G	GCGGGGCG others(8): Show GCGGGGCGGGGCGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02683.hp2 HG04204.hp2 others(1): Show HG00639.hp1 HG02683.hp2 HG04204.hp2 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0115 a0001c0002t0001g0124 a0001c0002t0001g0127 others(1): Show a0001c0002t0001g0115 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0003g0083	4	308	0.0130	15	c.48 others(26): Show c.4809_*4810insAACCGCCCCGCCCCG		CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding					3802		chr16	TogoVar
CNOT2_chr12_70238433_70359993	70265271	G G	GTCTCTTC others(8): Show GTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp2 NA19030.hp1 others(1): Show HG03098.hp1 HG03540.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010	4	280	0.0143	15	c.-95 others(34): Show c.-95-12860_-95-12859insCTCTTCTCTTCTCTT		CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT2_chr12_70238433_70359993	70265273	T T	TTCTTCTC others(8): Show TTCTTCTCTTCTCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0001 a0000c0003t0001	a0000c0003t0001g0194 a0000c0003t0001g0194	1	280	0.0036	15	c.-95 others(34): Show c.-95-12846_-95-12845insCCTCTTCTCTTCTCT		CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT2_chr12_70238433_70359993	70265273	T T	TTCTTCTC others(8): Show TTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00733.hp2 others(25): Show HG00438.hp2 HG00558.hp2 HG00733.hp2 HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG02015.hp2 HG02135.hp2 HG02300.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03516.hp2 NA18612.hp2 NA18966.hp2 NA18969.hp2 NA18994.hp2 NA19006.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0001c0002 others(1): Show a0000c0003 a0001c0001 a0001c0002 a0001c0004	a0000c0003t0001 a0001c0001t0001 a0001c0002t0001 others(2): Show a0000c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002	a0000c0003t0001g0011 a0000c0003t0001g0064 a0001c0001t0001g0012 others(25): Show a0000c0003t0001g0011 a0000c0003t0001g0064 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0135 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0002t0001g0061 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0108 a0001c0002t0001g0173 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0004t0001g0079 a0001c0004t0001g0201 a0001c0004t0002g0227	28	280	0.1000	15	c.-95 others(34): Show c.-95-12819_-95-12805dupCTCTTCTCTTCTCTT		CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT2_chr12_70238433_70359993	70265321	T T	TTCTCTTC others(8): Show TTCTCTTCTCTTCTCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp2 HG01934.hp1 others(6): Show HG00609.hp1 HG01069.hp2 HG01934.hp1 HG02622.hp2 HG02886.hp1 NA18906.hp1 NA18942.hp2 NA18997.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001	a0001c0004t0001g0245 a0001c0004t0001g0249 a0001c0004t0001g0258 others(6): Show a0001c0004t0001g0245 a0001c0004t0001g0249 a0001c0004t0001g0258 a0001c0004t0001g0260 a0001c0004t0001g0267 a0001c0004t0001g0272 a0001c0004t0003g0262 a0001c0005t0001g0252 a0001c0005t0001g0269	9	280	0.0321	15	c.-95 others(34): Show c.-95-12805_-95-12804insCTCTTCTCGTCTCTT		CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT3_chr19_54132762_54160681	54133779	C C	CTCTCCAC others(8): Show CTCTCCACCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	223	0.0045	15	c.-42 others(26): Show c.-4265_-4264insTCTCCACCTTCCCTG		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3982		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133869	T T	TCTCCACC others(8): Show TCTCCACCTCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	223	0.0045	15	c.-41 others(26): Show c.-4175_-4174insCTCCACCTCCCCTCA		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3892		chr19	TogoVar
CNOT4_chr7_135356795_135515102	135472508	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	362	0.0028	15	c.-92 others(34): Show c.-92-34086_-92-34085insATATATATATATATA		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472514	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	362	0.0028	15	c.-92 others(34): Show c.-92-34092_-92-34091insATATATATATATTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472514	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	362	0.0028	15	c.-92 others(34): Show c.-92-34092_-92-34091insATATATATATATATA		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT6L_chr4_77708387_77824368	77754888	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA19086.hp1 HG00642.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0180 a0001c0001t0001g0104 a0001c0001t0001g0180	2	328	0.0061	15	c.490 others(32): Show c.490+1959_490+1973dupTTTTTTTTTTTTTTT		CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	5/11						chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77819075	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	328	0.0031	15	c.5+2 others(26): Show c.5+228_5+229insTGTGTGTGTGTGTGT		CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11						chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77819111	T T	TCAGCCCC others(8): Show TCAGCCCCGCCGCCCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0327 a0001c0001t0040g0327	1	328	0.0031	15	c.5+1 others(26): Show c.5+178_5+192dupGGGGCGGCGGGGCTG		CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11						chr4	TogoVar
CNOT7_chr8_17219966_17251857	17226029	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0029 a0001c0001t0043g0029	2	408	0.0049	15	c.46 others(26): Show c.4676_*4690dupAAAAAAAAAAAAAAA		CNOT7	ENSG00000198791.12	transcript	ENST00000361272.9	protein_coding	7/7				4690		chr8	TogoVar
CNOT9_chr2_218563839_218602080	218588588	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18952.hp2 NA19009.hp2 others(1): Show HG02135.hp2 NA18952.hp2 NA19009.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0213 a0001c0001t0004g0217 a0001c0001t0004g0040 a0001c0001t0004g0213 a0001c0001t0004g0217	4	322	0.0124	15	c.540 others(30): Show c.540+905_540+919dupTTTTTTTTTTTTTTT		CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNPY1_chr7_155496129_155551559	155507471	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG03486.hp1 others(1): Show HG02717.hp1 HG02818.hp1 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0026 a0001c0001t0010 a0001c0001t0026	a0001c0001t0010g0084 a0001c0001t0010g0087 a0001c0001t0010g0090 others(1): Show a0001c0001t0010g0084 a0001c0001t0010g0087 a0001c0001t0010g0090 a0001c0001t0026g0096	4	426	0.0094	15	c.304 others(30): Show c.304-370_304-356dupTTTTTTTTTTTTTTT		CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	3/4						chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG02572.hp1 others(12): Show HG00621.hp2 HG00735.hp1 HG02572.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp2 HG03579.hp2 HG03831.hp1 NA18906.hp2 NA18955.hp1 NA19007.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0010 a0001c0001t0014 a0001c0002t0003 others(6): Show a0001c0001t0010 a0001c0001t0014 a0001c0002t0003 a0001c0002t0012 a0001c0002t0023 a0001c0002t0034 a0001c0003t0001 a0001c0003t0006 a0001c0004t0003	a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 others(12): Show a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0014g0029 a0001c0002t0003g0339 a0001c0002t0012g0376 a0001c0002t0012g0416 a0001c0002t0012g0417 a0001c0002t0023g0318 a0001c0002t0034g0336 a0001c0003t0001g0211 a0001c0003t0006g0050 a0001c0004t0003g0289 a0001c0004t0003g0349 a0001c0004t0003g0414	15	426	0.0352	15	c.100 others(34): Show c.100-17958_100-17957insAAAGAAAGAAAGAAA		CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4						chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527055	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0167 a0001c0003t0001g0167	1	426	0.0024	15	c.100 others(34): Show c.100-17959_100-17958insGAAAGAAAGAAAGAA		CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4						chr7	TogoVar
CNPY4_chr7_100114634_100130508	100121116	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0101 a0003c0003t0001g0101	1	416	0.0024	15	c.119 others(32): Show c.119-1142_119-1141insATATATATATATATT		CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNPY4_chr7_100114634_100130508	100121117	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	416	0.0024	15	c.119 others(32): Show c.119-1142_119-1141insATATATATATATATA		CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	1/5						chr7	TogoVar
CNR2_chr1_23865515_23918362	23869244	A A	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00597.hp2 others(48): Show HG00140.hp2 HG00323.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01169.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02145.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp2 NA18959.hp1 NA18979.hp1 NA18983.hp2 NA18988.hp2 NA19000.hp2 NA19070.hp1 NA19083.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0028 a0001c0001t0069 a0002c0002t0002 a0002c0002t0007 a0002c0002t0014 a0002c0002t0025 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0061 a0002c0002t0062 a0002c0002t0066	a0001c0001t0001g0065 a0001c0001t0001g0154 a0001c0001t0001g0162 others(48): Show a0001c0001t0001g0065 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0005g0108 a0001c0001t0010g0214 a0001c0001t0010g0217 a0001c0001t0028g0248 a0001c0001t0028g0259 a0001c0001t0069g0235 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0051 a0002c0002t0002g0077 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0125 a0002c0002t0002g0129 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0151 a0002c0002t0002g0159 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0175 a0002c0002t0002g0194 a0002c0002t0002g0201 a0002c0002t0002g0255 a0002c0002t0007g0016 a0002c0002t0007g0034 a0002c0002t0007g0049 a0002c0002t0007g0156 a0002c0002t0007g0167 a0002c0002t0007g0229 a0002c0002t0014g0018 a0002c0002t0014g0029 a0002c0002t0014g0037 a0002c0002t0025g0096 a0002c0002t0057g0057 a0002c0002t0058g0160 a0002c0002t0059g0101 a0002c0002t0061g0059 a0002c0002t0062g0024 a0002c0002t0066g0067	51	268	0.1903	15	c.52 others(26): Show c.5290_*5291insCCTTCCTTCCTTCCT		CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding					1270		chr1	TogoVar
CNR2_chr1_23865515_23918362	23872132	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0227 a0001c0001t0071g0227	1	268	0.0037	15	c.23 others(26): Show c.2388_*2402dupTTTTTTTTTTTTTTT		CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	2/2				2402		chr1	TogoVar
CNR2_chr1_23865515_23918362	23895466	C C	CCCATAGC others(8): Show CCCATAGCAAGTGGCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	268	0.0037	15	c.-46 others(34): Show c.-46+17765_-46+17779dupCGCCACTTGCTATGG		CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1						chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)