Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EFCAB12_chr3_129396321_129433636	129412424	GGATGGAT others(9): Show GGATGGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	386	0.0026	-16	c.839 others(33): Show c.839-1086_839-1071delTATCTATCTATCCATC	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	4/8			chr3	TogoVar
EFCAB12_chr3_129396321_129433636	129412428	GGATAGAT others(9): Show GGATAGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0230 a0004c0004t0001g0230	1	386	0.0026	-16	c.839 others(33): Show c.839-1090_839-1075delTATCTATCTATCTATC	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	4/8			chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47325923	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01517.hp1 HG02165.hp1 others(5): Show HG01256.hp2 HG01517.hp1 HG02165.hp1 HG02698.hp1 HG02735.hp1 HG02976.hp2 NA18944.hp1 NA18952.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0004 a0008c0011 a0001c0001 a0003c0004 a0008c0011	a0001c0001t0001 a0003c0004t0002 a0008c0011t0001 a0001c0001t0001 a0003c0004t0002 a0008c0011t0001	a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0184 others(5): Show a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0275 a0003c0004t0002g0241 a0008c0011t0001g0050	8	356	0.0225	-16	c.-24 others(33): Show c.-247-279_-247-264delTATATATATATATATA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351298	TGTGTGTG others(9): Show TGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18945.hp2 NA18952.hp2 others(4): Show HG02083.hp2 NA18945.hp2 NA18952.hp2 NA18960.hp2 NA18989.hp2 NA18997.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0303 a0002c0002t0001g0304 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0308 a0002c0002t0001g0321	7	356	0.0197	-16	c.661 others(33): Show c.661+3349_661+3364delTGTGTGCGCGCGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351300	TGTGTGCG others(9): Show TGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG00738.hp2 others(3): Show HG00099.hp2 HG00735.hp2 HG00738.hp2 HG01255.hp2 HG01433.hp2 NA20129.hp2	a0002 a0014 a0002 a0014	a0002c0002 a0014c0019 a0002c0002 a0014c0019	a0002c0002t0001 a0014c0019t0001 a0002c0002t0001 a0014c0019t0001	a0002c0002t0001g0259 a0002c0002t0001g0294 a0002c0002t0001g0312 others(3): Show a0002c0002t0001g0259 a0002c0002t0001g0294 a0002c0002t0001g0312 a0002c0002t0001g0316 a0002c0002t0001g0317 a0014c0019t0001g0280	6	356	0.0169	-16	c.661 others(33): Show c.661+3351_661+3366delTGTGCGCGCGCGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351302	TGTGCGCG others(9): Show TGTGCGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03041.hp1 HG02004.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0347 a0002c0002t0001g0279 a0002c0002t0001g0347	2	356	0.0056	-16	c.661 others(33): Show c.661+3353_661+3368delTGCGCGCGCGCGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47432399	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(42): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG01346.hp2 HG01515.hp2 HG02056.hp2 HG02647.hp2 HG02976.hp2 HG03471.hp1 HG03486.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA21309.hp1	a0003 a0007 a0008 others(3): Show a0003 a0007 a0008 a0009 a0013 a0016	a0003c0004 a0003c0016 a0007c0009 others(4): Show a0003c0004 a0003c0016 a0007c0009 a0008c0011 a0009c0012 a0013c0017 a0016c0020	a0003c0004t0002 a0003c0016t0002 a0007c0009t0001 others(5): Show a0003c0004t0002 a0003c0016t0002 a0007c0009t0001 a0007c0009t0002 a0008c0011t0001 a0009c0012t0002 a0013c0017t0001 a0016c0020t0001	a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0217 others(41): Show a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0217 a0003c0004t0002g0219 a0003c0004t0002g0220 a0003c0004t0002g0222 a0003c0004t0002g0224 a0003c0004t0002g0225 a0003c0004t0002g0226 a0003c0004t0002g0227 a0003c0004t0002g0229 a0003c0004t0002g0230 a0003c0004t0002g0231 a0003c0004t0002g0232 a0003c0004t0002g0233 a0003c0004t0002g0235 a0003c0004t0002g0236 a0003c0004t0002g0237 a0003c0004t0002g0239 a0003c0004t0002g0241 a0003c0004t0002g0243 a0003c0004t0002g0244 a0003c0004t0002g0245 a0003c0004t0002g0247 a0003c0004t0002g0249 a0003c0004t0002g0250 a0003c0004t0002g0251 a0003c0004t0002g0253 a0003c0016t0002g0223 a0007c0009t0001g0221 a0007c0009t0002g0218 a0007c0009t0002g0234 a0007c0009t0002g0246 a0007c0009t0002g0248 a0007c0009t0002g0252 a0008c0011t0001g0049 a0008c0011t0001g0050 a0008c0011t0001g0054 a0008c0011t0001g0273 a0009c0012t0002g0004 a0009c0012t0002g0216 a0009c0012t0002g0242 a0013c0017t0001g0205 a0016c0020t0001g0346	45	356	0.1264	-16	c.263 others(35): Show c.2638+2467_2638+2482delAAATAAATAAATAAAT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46720489	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(176): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0003 others(1): Show a0001c0001 a0001c0002 a0003c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0002t0002 a0003c0003t0002 a0005c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0003g0031 a0001c0001t0003g0195 a0001c0001t0003g0220 a0001c0001t0008g0107 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0012g0017 a0001c0001t0013g0289 a0001c0001t0013g0290 a0001c0001t0013g0291 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0017g0257 a0001c0001t0017g0267 a0001c0001t0018g0053 a0001c0001t0019g0050 a0001c0001t0020g0054 a0001c0001t0021g0041 a0001c0001t0033g0225 a0001c0001t0034g0259 a0001c0001t0035g0241 a0001c0001t0036g0278 a0001c0001t0037g0247 a0001c0002t0002g0009 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0069 a0003c0003t0002g0008 a0003c0003t0002g0024 a0005c0008t0002g0049	179	374	0.4786	-16	c.-24 others(27): Show c.-2418_-2403delATTTATTTATTTATTT	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding		1376		chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245014220	ACCTGGAA others(9): Show ACCTGGAAAATTGTTTG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	290	0.0035	-16	c.26- others(31): Show c.26-3020_26-3005delCTGGAAAATTGTTTGC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245075242	ACACCTGC others(9): Show ACACCTGCCGGACCCTG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	290	0.0035	-16	c.184 others(33): Show c.184-6840_184-6825delCACCTGCCGGACCCTG	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	4/7			chr1	TogoVar
EFCAB3_chr17_62375553_62421480	62411890	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp1 others(89): Show HG00099.hp2 HG00323.hp1 HG00639.hp1 HG00733.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18969.hp1 NA18975.hp2 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19030.hp2 NA19060.hp1 NA19063.hp1 NA19072.hp1 NA19074.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0004 a0005c0006 others(1): Show a0001c0001 a0003c0004 a0005c0006 a0006c0005	a0001c0001t0001 a0003c0004t0001 a0005c0006t0001 others(1): Show a0001c0001t0001 a0003c0004t0001 a0005c0006t0001 a0006c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(60): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0245 a0003c0004t0001g0025 a0005c0006t0001g0030 a0006c0005t0001g0206	92	368	0.2500	-16	c.868 others(33): Show c.868-1838_868-1823delAAGGAAGGAAGGGAGG	EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29994133	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01934.hp1 HG03195.hp1 others(2): Show HG00741.hp1 HG01934.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0007	a0002c0002 a0003c0003 a0004c0004 others(2): Show a0002c0002 a0003c0003 a0004c0004 a0006c0008 a0007c0009	a0002c0002t0002 a0003c0003t0002 a0004c0004t0002 others(2): Show a0002c0002t0002 a0003c0003t0002 a0004c0004t0002 a0006c0008t0002 a0007c0009t0002	a0002c0002t0002g0095 a0003c0003t0002g0144 a0004c0004t0002g0105 others(2): Show a0002c0002t0002g0095 a0003c0003t0002g0144 a0004c0004t0002g0105 a0006c0008t0002g0018 a0007c0009t0002g0100	5	248	0.0202	-16	c.924 others(31): Show c.924+841_924+856delATATATATATATATAT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30026961	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0136 a0003c0003t0002g0136	1	248	0.0040	-16	c.104 others(35): Show c.1045-7241_1045-7226delTTTTTTTTTTTTTTTT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30055322	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG02486.hp1 HG03130.hp2	a0003 a0014 a0003 a0014	a0003c0003 a0014c0021 a0003c0003 a0014c0021	a0003c0003t0002 a0014c0021t0002 a0003c0003t0002 a0014c0021t0002	a0003c0003t0002g0139 a0014c0021t0002g0012 a0003c0003t0002g0139 a0014c0021t0002g0012	2	248	0.0081	-16	c.219 others(33): Show c.2195-518_2195-503delAAGGAAGGAAGGAAGG	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30097033	TATACATA others(9): Show TATACATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03209.hp1 HG03017.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0192 a0003c0003t0002g0138 a0001c0001t0001g0192 a0003c0003t0002g0138	2	248	0.0081	-16	c.432 others(35): Show c.4321+4101_4321+4116delCATATACATATACATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	290	0.0035	-16	c.246 others(35): Show c.2466-2259_2466-2244delTTTCTTTCTTTCTTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43760211	AAAAAAAA others(9): Show AAAAAAAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	290	0.0035	-16	c.441 others(33): Show c.441-4395_441-4380delCTTTTTTCTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	5/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784553	ATATACAC others(9): Show ATATACACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03491.hp2 HG03492.hp1 HG02155.hp2 HG03491.hp2 HG03492.hp1	a0003 a0014 a0003 a0014	a0003c0003 a0014c0017 a0003c0003 a0014c0017	a0003c0003t0001 a0014c0017t0001 a0003c0003t0001 a0014c0017t0001	a0003c0003t0001g0218 a0014c0017t0001g0282 a0014c0017t0001g0283 a0003c0003t0001g0218 a0014c0017t0001g0282 a0014c0017t0001g0283	3	290	0.0103	-16	c.-7- others(31): Show c.-7-2244_-7-2229delCATATATATGTGTATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63562445	TTATTTAT others(9): Show TTATTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG01952.hp2 others(8): Show HG01243.hp1 HG01433.hp1 HG01952.hp2 HG02004.hp2 HG03195.hp2 HG03491.hp2 HG04115.hp2 NA18522.hp1 NA18940.hp1 NA18952.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0242 a0001c0001t0001g0247 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0003g0018	11	374	0.0294	-16	c.149 others(33): Show c.1497+592_1497+607delTTATATATATATATAT	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32939125	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG02055.hp1 others(24): Show HG00639.hp2 HG01099.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp2 HG03834.hp2 NA18522.hp2 NA18944.hp1 NA18950.hp1 NA18998.hp1 NA19030.hp1 NA19062.hp1 NA19081.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(10): Show a0001 a0002 a0005 a0006 a0008 a0009 a0011 a0013 a0018 a0021 a0026 a0037 a0044	a0001c0001 a0002c0002 a0002c0011 others(11): Show a0001c0001 a0002c0002 a0002c0011 a0005c0037 a0006c0005 a0008c0007 a0009c0015 a0011c0010 a0013c0020 a0018c0051 a0021c0062 a0026c0027 a0037c0057 a0044c0044	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(14): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0011t0001 a0005c0037t0004 a0006c0005t0003 a0008c0007t0003 a0009c0015t0001 a0011c0010t0003 a0011c0010t0006 a0013c0020t0003 a0018c0051t0003 a0021c0062t0001 a0026c0027t0003 a0037c0057t0004 a0044c0044t0002	a0001c0001t0001g0138 a0001c0001t0001g0188 a0001c0001t0001g0206 others(24): Show a0001c0001t0001g0138 a0001c0001t0001g0188 a0001c0001t0001g0206 a0002c0002t0001g0234 a0002c0002t0001g0273 a0002c0002t0002g0003 a0002c0002t0002g0051 a0002c0002t0002g0054 a0002c0002t0002g0056 a0002c0002t0002g0110 a0002c0002t0003g0265 a0002c0011t0001g0246 a0005c0037t0004g0183 a0006c0005t0003g0065 a0006c0005t0003g0067 a0006c0005t0003g0074 a0008c0007t0003g0281 a0009c0015t0001g0096 a0011c0010t0003g0141 a0011c0010t0006g0030 a0011c0010t0006g0049 a0013c0020t0003g0254 a0018c0051t0003g0224 a0021c0062t0001g0072 a0026c0027t0003g0092 a0037c0057t0004g0249 a0044c0044t0002g0202	27	284	0.0951	-16	c.279 others(35): Show c.2791-4448_2791-4433delTTTCTTTCTTTCTTTC	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32940023	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18522.hp1 HG02280.hp2 NA18522.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0006 a0003c0003 a0007c0006	a0003c0003t0001 a0007c0006t0001 a0003c0003t0001 a0007c0006t0001	a0003c0003t0001g0282 a0007c0006t0001g0247 a0003c0003t0001g0282 a0007c0006t0001g0247	2	284	0.0070	-16	c.279 others(35): Show c.2791-3568_2791-3553delCCTTCCTTCCTTCCTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32948524	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0028 a0028	a0028c0021 a0028c0021	a0028c0021t0002 a0028c0021t0002	a0028c0021t0002g0011 a0028c0021t0002g0011	1	284	0.0035	-16	c.295 others(35): Show c.2959+4764_2959+4779delGAAAGAAAGAAAGAAA	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	23/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55873066	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG03471.hp2 HG02280.hp1 HG02976.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065	3	350	0.0086	-16	c.100 others(35): Show c.1000+1864_1000+1879delTGTGTGTGTGTGTGTG	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EFHB_chr3_19874472_19939217	19882016	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03486.hp2 NA20300.hp2 HG02970.hp1 HG03486.hp2 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0181 a0003c0004t0001g0182 a0003c0004t0001g0183 a0003c0004t0001g0181 a0003c0004t0001g0182 a0003c0004t0001g0183	3	344	0.0087	-16	c.232 others(33): Show c.2328+518_2328+533delATTTATTTATTTATTT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	12/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19882047	ATAAATAA others(9): Show ATAAATAAATAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02723.hp1 others(8): Show HG02258.hp2 HG02486.hp2 HG02723.hp1 HG02818.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03516.hp2 NA18522.hp2 NA19240.hp1 NA19240.hp2	a0008 a0013 a0008 a0013	a0008c0011 a0013c0015 a0008c0011 a0013c0015	a0008c0011t0001 a0013c0015t0002 a0008c0011t0001 a0013c0015t0002	a0008c0011t0001g0020 a0008c0011t0001g0021 a0008c0011t0001g0022 others(7): Show a0008c0011t0001g0020 a0008c0011t0001g0021 a0008c0011t0001g0022 a0008c0011t0001g0023 a0008c0011t0001g0024 a0008c0011t0001g0025 a0008c0011t0001g0026 a0008c0011t0001g0027 a0013c0015t0002g0017 a0013c0015t0002g0324	11	344	0.0320	-16	c.232 others(33): Show c.2328+487_2328+502delATTATTTATTTATTTA	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	12/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 HG02896.hp2 HG03225.hp1	a0002 a0002	a0002c0009 a0002c0010 a0002c0009 a0002c0010	a0002c0009t0001 a0002c0010t0001 a0002c0009t0001 a0002c0010t0001	a0002c0009t0001g0124 a0002c0010t0001g0125 a0002c0009t0001g0124 a0002c0010t0001g0125	2	344	0.0058	-16	c.128 others(35): Show c.1289-2829_1289-2814delCTCTCTCTCTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908598	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0063 a0002c0010t0001g0063	1	344	0.0029	-16	c.128 others(35): Show c.1289-2865_1289-2850delTTCTTTCTTTCTTTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19936873	TAATAAAT others(9): Show TAATAAATAAATAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02976.hp2 HG03130.hp1 others(2): Show HG02723.hp1 HG02976.hp2 HG03130.hp1 NA18522.hp2 NA19240.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0020 a0008c0011t0001g0021 a0008c0011t0001g0022 others(2): Show a0008c0011t0001g0020 a0008c0011t0001g0021 a0008c0011t0001g0022 a0008c0011t0001g0023 a0008c0011t0001g0024	5	344	0.0145	-16	c.-28 others(27): Show c.-2871_-2856delTATTTATTTATTTATT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding		2657		chr3	TogoVar
EFHC2_chrX_44142872_44348672	44209019	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18967.hp1 HG03098.hp1 NA18967.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0008 a0009c0011t0014 a0001c0001t0008 a0009c0011t0014	a0001c0001t0008g0202 a0009c0011t0014g0002 a0001c0001t0008g0202 a0009c0011t0014g0002	2	221	0.0091	-16	c.175 others(37): Show c.1751+20614_1751+20629delCACACACACACACACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	221	0.0045	-16	c.607 others(33): Show c.607-1168_607-1153delTTTTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44282631	GGGGGGTG others(9): Show GGGGGGTGGGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01358.hp1 HG01952.hp1 others(12): Show HG01109.hp1 HG01358.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02074.hp1 HG02698.hp1 HG02895.hp1 HG02970.hp2 HG03831.hp1 NA18943.hp1 NA18970.hp1 NA18994.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0002c0008 others(2): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0010c0012	a0001c0001t0002 a0002c0002t0002 a0002c0002t0004 others(4): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0004 a0003c0003t0002 a0010c0012t0001	a0001c0001t0002g0096 a0001c0001t0002g0101 a0002c0002t0002g0062 others(12): Show a0001c0001t0002g0096 a0001c0001t0002g0101 a0002c0002t0002g0062 a0002c0002t0002g0080 a0002c0002t0002g0090 a0002c0002t0002g0140 a0002c0002t0002g0164 a0002c0002t0002g0181 a0002c0002t0002g0201 a0002c0002t0004g0207 a0002c0002t0004g0209 a0002c0002t0007g0166 a0002c0008t0004g0128 a0003c0003t0002g0058 a0010c0012t0001g0071	15	221	0.0679	-16	c.232 others(33): Show c.232-9811_232-9796delACCCCCCCCCACCCCC	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	2/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44294249	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01070.hp1 others(46): Show HG00438.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02148.hp1 HG02165.hp2 HG02615.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03492.hp1 HG03831.hp1 HG04204.hp1 NA18943.hp1 NA18957.hp2 NA18974.hp1 NA18994.hp1 NA19005.hp1 NA19009.hp1 NA19056.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0004c0004 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0004 a0003c0003t0002 a0004c0004t0002 a0004c0004t0004 a0013c0014t0023	a0001c0001t0001g0103 a0001c0001t0002g0082 a0001c0001t0002g0096 others(46): Show a0001c0001t0001g0103 a0001c0001t0002g0082 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0004g0066 a0001c0001t0004g0094 a0001c0001t0004g0134 a0001c0001t0004g0142 a0001c0001t0004g0156 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0006g0078 a0001c0001t0012g0032 a0001c0001t0012g0033 a0002c0002t0002g0014 a0002c0002t0002g0062 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0090 a0002c0002t0002g0140 a0002c0002t0002g0164 a0002c0002t0002g0181 a0002c0002t0002g0190 a0002c0002t0002g0201 a0002c0002t0004g0207 a0002c0002t0004g0209 a0002c0002t0007g0155 a0002c0002t0007g0166 a0002c0002t0007g0216 a0002c0002t0007g0217 a0002c0008t0004g0055 a0002c0008t0004g0128 a0003c0003t0002g0020 a0003c0003t0002g0054 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0100 a0003c0003t0002g0109 a0003c0003t0002g0120 a0003c0003t0002g0186 a0003c0003t0002g0187 a0004c0004t0002g0022 a0004c0004t0002g0027 a0004c0004t0002g0028 a0004c0004t0004g0133 a0013c0014t0023g0191	49	221	0.2217	-16	c.231 others(35): Show c.231+18303_231+18318delACACACACACACACAC	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	2/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232687346	AAAAAAAA others(9): Show AAAAAAAAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG03704.hp1 NA18942.hp2 HG02129.hp1 HG03704.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0004 a0001c0004t0004 a0002c0002t0001 a0001c0001t0004 a0001c0004t0004 a0002c0002t0001	a0001c0001t0004g0329 a0001c0004t0004g0169 a0002c0002t0001g0132 a0001c0001t0004g0329 a0001c0004t0004g0169 a0002c0002t0001g0132	3	382	0.0079	-16	c.56 others(27): Show c.5628_*5643delAAAAAAAAAAGAAAAG	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding		4571		chr2	TogoVar
EFHD1_chr2_232628604_232687776	232687351	AAAAAAGA others(9): Show AAAAAAGAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0171 a0001c0004t0004g0171	1	382	0.0026	-16	c.56 others(27): Show c.5633_*5648delAAAAAGAAAAGAAAAG	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding		4576		chr2	TogoVar
EFL1_chr15_82125233_82267734	82185169	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03130.hp2 HG03195.hp2 others(5): Show HG02818.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 NA18950.hp1 NA18978.hp1 NA19030.hp2 NA20129.hp1	a0004 a0012 a0004 a0012	a0004c0006 a0012c0016 a0004c0006 a0012c0016	a0004c0006t0001 a0012c0016t0001 a0004c0006t0001 a0012c0016t0001	a0004c0006t0001g0053 a0004c0006t0001g0054 a0004c0006t0001g0056 others(5): Show a0004c0006t0001g0053 a0004c0006t0001g0054 a0004c0006t0001g0056 a0004c0006t0001g0186 a0004c0006t0001g0187 a0004c0006t0001g0190 a0004c0006t0001g0337 a0012c0016t0001g0055	8	368	0.0217	-16	c.175 others(37): Show c.1751-21201_1751-21186delCACACACACACACACA	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFL1_chr15_82125233_82267734	82243666	TCAGGCTT others(9): Show TCAGGCTTCCTATACAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00642.hp2 others(16): Show HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG01081.hp2 HG01106.hp2 HG01169.hp1 HG02165.hp1 HG02735.hp1 HG03942.hp1 NA18956.hp1 NA18963.hp2 NA18966.hp2 NA18984.hp1 NA18985.hp2 NA19005.hp2 NA19011.hp1 NA19056.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0063 a0001c0003t0001g0110 a0001c0003t0001g0111 others(16): Show a0001c0003t0001g0063 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0125 a0002c0002t0001g0067 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0338 a0002c0002t0001g0339	19	368	0.0516	-16	c.245 others(33): Show c.245-2279_245-2264delTTGTATAGGAAGCCTG	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	4/19			chr15	TogoVar
EFNA2_chr19_1280873_1306431	1300241	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0005 a0001c0001t0072g0005	1	294	0.0034	-16	c.31 others(25): Show c.316_*331delTTTTTTTTTTTTTTTT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding	4/4	316	INFO_REALIGN_3_PRIME	chr19	TogoVar
EFNA3_chr1_155073837_155092538	155076227	AGTGTGTG others(9): Show AGTGTGTGTGTATGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG02647.hp2 others(2): Show HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02895.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	5	334	0.0150	-16	c.-27 others(27): Show c.-2714_-2699delGTGTGTGTGTATGAGT	EFNA3	ENSG00000143590.14	transcript	ENST00000368408.4	protein_coding		2609		chr1	TogoVar
EFNA3_chr1_155073837_155092538	155076399	GAGAAGCC others(9): Show GAGAAGCCCAGGCCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 NA20129.hp1 HG01884.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	2	334	0.0060	-16	c.-25 others(27): Show c.-2542_-2527delAGAAGCCCAGGCCTTT	EFNA3	ENSG00000143590.14	transcript	ENST00000368408.4	protein_coding		2437		chr1	TogoVar
EFNA5_chr5_107371894_107675937	107482816	CTCTCTCT others(9): Show CTCTCTCTCTGTCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0173 a0001c0001t0011g0173	1	190	0.0053	-16	c.126 others(35): Show c.126-55323_126-55308delCAGAGACAGAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482858	CTCTCTCT others(9): Show CTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18999.hp1 HG00544.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0026 a0001c0001t0010 a0001c0001t0026	a0001c0001t0010g0137 a0001c0001t0026g0161 a0001c0001t0010g0137 a0001c0001t0026g0161	2	190	0.0105	-16	c.126 others(35): Show c.126-55365_126-55350delTATAGAGAGAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482862	CTCTCTCT others(9): Show CTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01106.hp2 others(6): Show HG00099.hp1 HG00738.hp1 HG01106.hp2 HG01361.hp2 HG02723.hp2 HG03516.hp1 HG04184.hp2 NA18957.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0001t0034 a0001c0001t0085 a0001c0001t0089	a0001c0001t0002g0144 a0001c0001t0002g0184 a0001c0001t0004g0004 others(6): Show a0001c0001t0002g0144 a0001c0001t0002g0184 a0001c0001t0004g0004 a0001c0001t0008g0017 a0001c0001t0015g0043 a0001c0001t0017g0156 a0001c0001t0034g0131 a0001c0001t0085g0055 a0001c0001t0089g0030	9	190	0.0474	-16	c.126 others(35): Show c.126-55369_126-55354delTATATATAGAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107482864	CTCTCTCT others(9): Show CTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0188 a0001c0001t0068g0188	1	190	0.0053	-16	c.126 others(35): Show c.126-55371_126-55356delTATATATATAGAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107617243	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0113 a0001c0001t0013g0113	1	190	0.0053	-16	c.125 others(35): Show c.125+53230_125+53245delTTCTCTCTCTCTCTCT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107660261	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01361.hp2 others(5): Show HG01192.hp1 HG01243.hp2 HG01361.hp2 HG02109.hp1 HG02723.hp1 HG03540.hp1 NA19043.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0046 a0001c0001t0053 a0001c0001t0061 a0001c0001t0068 a0001c0001t0075	a0001c0001t0001g0133 a0001c0001t0002g0184 a0001c0001t0018g0110 others(5): Show a0001c0001t0001g0133 a0001c0001t0002g0184 a0001c0001t0018g0110 a0001c0001t0046g0037 a0001c0001t0053g0036 a0001c0001t0061g0013 a0001c0001t0068g0188 a0001c0001t0075g0168	8	190	0.0421	-16	c.125 others(35): Show c.125+10212_125+10227delATATATATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNB1_chrX_68824021_68847160	68838160	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG00639.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	2	335	0.0060	-16	c.129 others(31): Show c.129-455_129-440delTGTGTGTGTGTGCGCG	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68838162	TGTGTGTG others(9): Show TGTGTGTGTGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG01243.hp1 others(8): Show HG00099.hp2 HG01175.hp2 HG01243.hp1 HG01346.hp2 HG01358.hp1 HG01516.hp2 HG02055.hp1 HG02132.hp1 HG02155.hp2 HG03654.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040	a0001c0001t0001g0120 a0001c0001t0002g0009 a0001c0001t0002g0027 others(4): Show a0001c0001t0001g0120 a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0002g0141 a0001c0001t0037g0009 a0001c0001t0039g0027 a0001c0001t0040g0027	11	335	0.0328	-16	c.129 others(31): Show c.129-453_129-438delTGTGTGTGTGCGCGCG	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
EFR3A_chr8_131899093_132018642	132010405	GAGATATA others(9): Show GAGATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01243.hp2 HG00323.hp1 HG01081.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0137 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0137	3	412	0.0073	-16	c.236 others(33): Show c.2361-383_2361-368delGATATATATATATATA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3B_chr2_25037076_25164135	25041238	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA19043.hp2 NA18974.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0130 a0001c0004t0002g0056 a0001c0001t0001g0130 a0001c0004t0002g0056	2	306	0.0065	-16	c.-10 others(27): Show c.-1074_-1059delAAAAAAAAAAAAAAAA	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding		837		chr2	TogoVar
EFR3B_chr2_25037076_25164135	25118726	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0180 a0001c0002t0052g0180	1	306	0.0033	-16	c.364 others(33): Show c.364-2930_364-2915delAAAAAAAAAAAAAAAA	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)