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
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(19): Show CATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01168.hp1 others(18): Show HG00323.hp2 HG01081.hp2 HG01168.hp1 HG01256.hp1 HG02165.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp1 NA18959.hp1 NA18973.hp2 NA18989.hp2 NA19056.hp1 NA19083.hp1 NA19084.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0007 a0001c0001 a0001c0003 a0002c0007	a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 others(9): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0009 a0001c0003t0016 a0001c0003t0021 a0001c0003t0037 a0002c0007t0004 a0002c0007t0017	a0001c0001t0003g0088 a0001c0003t0001g0011 a0001c0003t0001g0012 others(18): Show a0001c0001t0003g0088 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0023 a0001c0003t0002g0002 a0001c0003t0002g0005 a0001c0003t0002g0022 a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0004g0019 a0001c0003t0008g0020 a0001c0003t0009g0021 a0001c0003t0016g0009 a0001c0003t0016g0010 a0001c0003t0016g0024 a0001c0003t0021g0007 a0001c0003t0021g0008 a0001c0003t0037g0018 a0002c0007t0004g0261 a0002c0007t0017g0256	21	284	0.0739	26	c.410 others(45): Show c.410+50088_410+50089insATATGTATATATATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp1 HG02056.hp1 others(4): Show HG00673.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02723.hp2 HG03453.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0028 a0002c0005t0006	a0001c0001t0002g0114 a0001c0001t0005g0035 a0001c0001t0007g0231 others(4): Show a0001c0001t0002g0114 a0001c0001t0005g0035 a0001c0001t0007g0231 a0001c0001t0010g0047 a0001c0001t0011g0056 a0001c0001t0028g0085 a0002c0005t0006g0259	7	284	0.0247	26	c.410 others(45): Show c.410+50088_410+50089insATATATATATATATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47324919	T T	TGTCTCCT others(19): Show TGTCTCCTTACCACCCCACCCAGATGG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	356	0.0028	26	c.-24 others(43): Show c.-248+397_-248+422dupGTCTCCTTACCACCCCACCCAGATGG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351304	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0324 a0002c0002t0003g0324	1	356	0.0028	26	c.661 others(43): Show c.661+3354_661+3355insTGTGTGTGTGTGTGTGTGTGTGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03654.hp1 HG00423.hp1 HG03654.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0003 a0005c0005t0001 a0005c0005t0003	a0005c0005t0001g0071 a0005c0005t0003g0327 a0005c0005t0001g0071 a0005c0005t0003g0327	2	356	0.0056	26	c.249 others(45): Show c.2495-4943_2495-4918dupTTTTTTTTTTTTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30096652	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0131 a0005c0007t0002g0131	1	248	0.0040	26	c.432 others(45): Show c.4321+3717_4321+3742dupATATATATATATATATATATATATAT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43562567	G G	GAGGGAGG others(19): Show GAGGGAGGCAGCCTGGTGGGGGGTGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG01346.hp1 others(13): Show HG00323.hp2 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG02293.hp1 HG02300.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03453.hp1 HG03486.hp2 NA18954.hp1 NA20129.hp2 NA20805.hp2	a0006 a0031 a0032 a0006 a0031 a0032	a0006c0006 a0031c0022 a0032c0042 a0006c0006 a0031c0022 a0032c0042	a0006c0006t0001 a0031c0022t0001 a0032c0042t0001 a0006c0006t0001 a0031c0022t0001 a0032c0042t0001	a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 others(13): Show a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 a0006c0006t0001g0267 a0006c0006t0001g0268 a0006c0006t0001g0269 a0006c0006t0001g0270 a0006c0006t0001g0271 a0006c0006t0001g0273 a0006c0006t0001g0276 a0006c0006t0001g0277 a0006c0006t0001g0278 a0006c0006t0001g0279 a0006c0006t0001g0280 a0031c0022t0001g0237 a0032c0042t0001g0275	16	290	0.0552	26	c.342 others(45): Show c.3421-7472_3421-7471insGCCACCCCCCACCAGGCTGCCTCCCT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	26/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0005 a0007c0007t0002g0005	1	290	0.0035	26	c.303 others(45): Show c.3032+3708_3032+3733dupAAAAAAAAAAAAAAAAAAAAAAAAAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43793706	A A	ACTGTAGC others(19): Show ACTGTAGCCTAGAGAAATTCAGCATTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(68): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02155.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18961.hp1 NA18967.hp1 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19091.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(8): Show a0001 a0003 a0007 a0014 a0017 a0018 a0019 a0024 a0026 a0028 a0029	a0001c0001 a0001c0013 a0001c0027 others(10): Show a0001c0001 a0001c0013 a0001c0027 a0003c0003 a0007c0014 a0014c0017 a0017c0025 a0018c0044 a0019c0043 a0024c0033 a0026c0028 a0028c0041 a0029c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0013t0001 a0001c0027t0001 a0003c0003t0001 a0003c0003t0008 a0007c0014t0002 a0007c0014t0005 a0014c0017t0001 a0017c0025t0002 a0018c0044t0001 a0019c0043t0001 a0024c0033t0001 a0026c0028t0003 a0028c0041t0001 a0029c0031t0002	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(68): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0285 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 a0001c0013t0001g0233 a0001c0027t0001g0075 a0003c0003t0001g0023 a0003c0003t0001g0072 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0284 a0003c0003t0008g0287 a0007c0014t0002g0015 a0007c0014t0002g0016 a0007c0014t0002g0017 a0007c0014t0002g0018 a0007c0014t0005g0014 a0014c0017t0001g0282 a0014c0017t0001g0283 a0017c0025t0002g0011 a0018c0044t0001g0221 a0019c0043t0001g0224 a0024c0033t0001g0181 a0026c0028t0003g0003 a0028c0041t0001g0189 a0029c0031t0002g0012	71	290	0.2448	26	c.-7- others(43): Show c.-7-11382_-7-11381insCAATGCTGAATTTCTCTAGGCTACAG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFEMP1_chr2_55860967_55928782	55873066	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	350	0.0029	26	c.100 others(45): Show c.1000+1854_1000+1879dupTGTGTGTGTGTGTGTGTGTGTGTGTG	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(19): Show AAGAGAGAAAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03492.hp1 NA19030.hp2 HG02976.hp1 HG03492.hp1 NA19030.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0006 a0006c0008 a0002c0002 a0005c0006 a0006c0008	a0002c0002t0001 a0005c0006t0001 a0006c0008t0001 a0002c0002t0001 a0005c0006t0001 a0006c0008t0001	a0002c0002t0001g0117 a0005c0006t0001g0076 a0006c0008t0001g0074 a0002c0002t0001g0117 a0005c0006t0001g0076 a0006c0008t0001g0074	3	344	0.0087	26	c.128 others(45): Show c.1289-2814_1289-2813insCTCTCTCTCTCTCTCTCTTTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG03516.hp1 others(1): Show HG00741.hp2 HG02280.hp2 HG03516.hp1 NA19064.hp2	a0002 a0005 a0014 a0002 a0005 a0014	a0002c0002 a0005c0006 a0014c0016 a0002c0002 a0005c0006 a0014c0016	a0002c0002t0001 a0005c0006t0001 a0014c0016t0002 a0002c0002t0001 a0005c0006t0001 a0014c0016t0002	a0002c0002t0001g0101 a0002c0002t0001g0106 a0005c0006t0001g0114 others(1): Show a0002c0002t0001g0101 a0002c0002t0001g0106 a0005c0006t0001g0114 a0014c0016t0002g0311	4	344	0.0116	26	c.128 others(45): Show c.1289-2839_1289-2814dupCTCTCTCTCTCTCTCTCTCTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG02129.hp2 HG02683.hp2 others(7): Show HG01099.hp1 HG02129.hp2 HG02683.hp2 HG03041.hp1 HG03195.hp1 HG06807.hp2 NA18993.hp2 NA19043.hp1 NA19089.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0032 a0001c0001t0066 a0001c0001t0069 others(4): Show a0001c0001t0032 a0001c0001t0066 a0001c0001t0069 a0001c0001t0070 a0002c0002t0021 a0002c0002t0033 a0002c0002t0067	a0001c0001t0032g0297 a0001c0001t0032g0300 a0001c0001t0066g0049 others(7): Show a0001c0001t0032g0297 a0001c0001t0032g0300 a0001c0001t0066g0049 a0001c0001t0069g0058 a0001c0001t0070g0135 a0002c0002t0021g0305 a0002c0002t0021g0306 a0002c0002t0033g0009 a0002c0002t0033g0146 a0002c0002t0067g0215	10	396	0.0253	26	c.10 others(37): Show c.1044_*1045insATATATATATATATATATATATATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA20129.hp2 HG01169.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0002 a0001c0001t0003 a0003c0003t0002	a0001c0001t0003g0037 a0003c0003t0002g0058 a0001c0001t0003g0037 a0003c0003t0002g0058	2	221	0.0091	26	c.175 others(45): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	221	0.0045	26	c.175 others(45): Show c.1752-8572_1752-8571insTATATATATATATATATATATATACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232677207	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp2 NA18747.hp2 others(4): Show HG02523.hp1 HG02523.hp2 NA18747.hp2 NA18969.hp2 NA19056.hp1 NA19060.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0012 a0001c0004t0004 a0001c0001t0004 a0001c0001t0012 a0001c0004t0004	a0001c0001t0004g0353 a0001c0001t0004g0359 a0001c0001t0012g0351 others(4): Show a0001c0001t0004g0353 a0001c0001t0004g0359 a0001c0001t0012g0351 a0001c0004t0004g0065 a0001c0004t0004g0105 a0001c0004t0004g0207 a0001c0004t0004g0230	7	382	0.0183	26	c.586 others(43): Show c.586-4369_586-4344dupACACACACACACACACACACACACAC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02735.hp1 NA18959.hp1 others(2): Show HG02145.hp2 HG02735.hp1 NA18959.hp1 NA19030.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0105 a0002c0002t0001g0123 others(2): Show a0002c0002t0001g0067 a0002c0002t0001g0105 a0002c0002t0001g0123 a0002c0002t0001g0180 a0002c0002t0001g0342	5	368	0.0136	26	c.175 others(45): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107448866	T T	TAAATAAA others(19): Show TAAATAAATAAATAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0048 a0001c0001t0065g0048	1	190	0.0053	26	c.126 others(45): Show c.126-21358_126-21357insTATTTTATTTATTTATTTATTTATTT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569383	T T	TTTTATGT others(19): Show TTTTATGTATATGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0164 a0001c0001t0025g0164	1	190	0.0053	26	c.125 others(47): Show c.125+101080_125+101105dupTATATATATACACACATATACATA AA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(19): Show TATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	412	0.0024	26	c.31 others(37): Show c.3116_*3117insATATATATATATATATACACACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02040.hp2 NA18951.hp2 others(2): Show HG02015.hp1 HG02040.hp2 NA18951.hp2 NA18956.hp2 NA19068.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0196 others(2): Show a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0209 a0005c0005t0001g0091	5	412	0.0121	26	c.31 others(37): Show c.3116_*3117insATATATATATATATATATACACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	412	0.0024	26	c.31 others(37): Show c.3116_*3117insATATATATATATATATATATACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01361.hp1 HG01928.hp2 others(9): Show HG00621.hp2 HG01361.hp1 HG01928.hp2 HG01978.hp1 HG02027.hp2 HG03453.hp1 HG04204.hp1 HG04204.hp2 NA18975.hp1 NA19007.hp1 NA19009.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0182 a0001c0001t0006g0146 a0001c0003t0003g0007 others(9): Show a0001c0001t0001g0182 a0001c0001t0006g0146 a0001c0003t0003g0007 a0001c0003t0003g0024 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0063 a0001c0003t0003g0064 a0002c0002t0002g0313 a0002c0002t0002g0336 a0002c0002t0002g0346 a0002c0002t0002g0358	12	412	0.0291	26	c.72 others(37): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25041966	G G	GGGGGCGG others(19): Show GGGGGCGGGGCGCAGGGGCGGGGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	306	0.0033	26	c.-34 others(35): Show c.-347_-346insGGGGCGGGGCGCAGGGGCGGGGCGCA	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding		109		chr2	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0157 a0001c0001t0005g0157	1	306	0.0033	26	c.8-1 others(41): Show c.8-11039_8-11014dupTTTTTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03239.hp1 HG02559.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0005t0025 a0001c0004t0004 a0001c0005t0025	a0001c0004t0004g0164 a0001c0005t0025g0246 a0001c0004t0004g0164 a0001c0005t0025g0246	2	250	0.0080	26	c.270 others(45): Show c.2702-2524_2702-2523insTTTTTTTTTTTTTTTTTTTTTTTTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109932360	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01928.hp1 HG01934.hp2 others(14): Show HG00673.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG03831.hp2 NA18950.hp2 NA18967.hp2 NA18969.hp2 NA19086.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0033 a0001c0001t0044 a0001c0007t0002 a0002c0002t0006	a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 others(14): Show a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0002g0313 a0001c0001t0004g0296 a0001c0001t0004g0353 a0001c0001t0006g0316 a0001c0001t0006g0362 a0001c0001t0014g0239 a0001c0001t0033g0240 a0001c0001t0044g0081 a0001c0007t0002g0107 a0002c0002t0006g0371	17	388	0.0438	26	c.128 others(43): Show c.128-8569_128-8568insTATATATATATATATATATATATATA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932376	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19077.hp2 NA18968.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0328 a0001c0001t0013g0335 a0001c0001t0004g0328 a0001c0001t0013g0335	2	388	0.0052	26	c.128 others(43): Show c.128-8569_128-8568insTATATATATATATATATATATATAAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932380	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	388	0.0026	26	c.128 others(43): Show c.128-8566_128-8565insATATATATATATATATATATATATAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EGF_chr4_109907883_110018766	109932382	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02040.hp2 others(14): Show HG00423.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG03490.hp2 HG03492.hp1 NA18612.hp1 NA18939.hp1 NA18951.hp1 NA18978.hp1 NA19004.hp2 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19091.hp2	a0003 a0021 a0003 a0021	a0003c0003 a0021c0031 a0003c0003 a0021c0031	a0003c0003t0005 a0003c0003t0008 a0003c0003t0018 others(1): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0018 a0021c0031t0005	a0003c0003t0005g0002 a0003c0003t0005g0014 a0003c0003t0005g0028 others(14): Show a0003c0003t0005g0002 a0003c0003t0005g0014 a0003c0003t0005g0028 a0003c0003t0005g0030 a0003c0003t0005g0031 a0003c0003t0005g0032 a0003c0003t0005g0041 a0003c0003t0005g0042 a0003c0003t0005g0043 a0003c0003t0005g0048 a0003c0003t0005g0050 a0003c0003t0008g0002 a0003c0003t0008g0040 a0003c0003t0008g0046 a0003c0003t0008g0053 a0003c0003t0018g0228 a0021c0031t0005g0029	17	388	0.0438	26	c.128 others(43): Show c.128-8564_128-8563insATATATATATATATATATATATATAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EGF_chr4_109907883_110018766	110004215	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp2 NA18941.hp1 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0021 a0002c0002t0001 a0002c0002t0021	a0002c0002t0001g0155 a0002c0002t0021g0342 a0002c0002t0001g0155 a0002c0002t0021g0342	2	388	0.0052	26	c.317 others(43): Show c.3174-278_3174-253dupCACACACACACACACACACACACACA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EHBP1_chr2_62700713_63051487	62900682	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03540.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0065 a0001c0001t0001g0067	2	198	0.0101	26	c.118 others(47): Show c.1185+26151_1185+26152insATATATATATATATATATATATAT AT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62957641	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	198	0.0051	26	c.246 others(45): Show c.2460+2003_2460+2004insTTTTTTTTTTTTTTTTTTTTTTTTTT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAATTATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	398	0.0025	26	c.915 others(43): Show c.915+5056_915+5057insAAAAAAAAAAAAAAAAATTATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0180 a0001c0004t0003g0180	1	398	0.0025	26	c.915 others(43): Show c.915+5056_915+5057insAAAAAAAAAATATATATATATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31244212	A A	AACAGCAT others(19): Show AACAGCATGTTGATCTTGCCTGATAGC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0125 a0001c0001t0008g0125	1	378	0.0027	26	c.228 others(39): Show c.228-62_228-61insACAGCATGTTGATCTTGCCTGATAGC	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	1/5			chr2	TogoVar
EHD4_chr15_41890933_41977557	41949051	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	360	0.0028	26	c.413 others(43): Show c.413+4712_413+4713insGTGTATATATATATATATATATATAT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHD4_chr15_41890933_41977557	41949051	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18983.hp1 NA18984.hp1 others(1): Show HG03831.hp2 NA18983.hp1 NA18984.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0010	a0001c0001t0001g0077 a0001c0001t0002g0074 a0001c0002t0003g0083 others(1): Show a0001c0001t0001g0077 a0001c0001t0002g0074 a0001c0002t0003g0083 a0001c0002t0010g0071	4	360	0.0111	26	c.413 others(43): Show c.413+4712_413+4713insGTATATATATATATATATATATATAT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHHADH_chr3_185185624_185259049	185213119	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	348	0.0029	26	c.568 others(43): Show c.568+4991_568+5016dupTTTTTTTTTTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	5/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137716219	T T	TTGGTGTC others(19): Show TTGGTGTCATGGTGGGGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02055.hp2 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0130 a0001c0003t0001g0121 a0001c0003t0001g0130	2	170	0.0118	26	c.86- others(39): Show c.86-401_86-376dupTCATGGTGGGGGAGGAAGTTGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716448	T T	TTGGTGTC others(19): Show TTGGTGTCATGGTGGGGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0054 a0001c0007t0001g0054	1	170	0.0059	26	c.86- others(39): Show c.86-175_86-150dupGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01255.hp1 others(5): Show HG00639.hp1 HG00733.hp1 HG01255.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp1 NA18971.hp2 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0013 a0002c0003t0001 a0002c0003t0013	a0002c0003t0001g0235 a0002c0003t0001g0242 a0002c0003t0001g0245 others(5): Show a0002c0003t0001g0235 a0002c0003t0001g0242 a0002c0003t0001g0245 a0002c0003t0001g0249 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0290 a0002c0003t0013g0253	8	418	0.0191	26	c.630 others(41): Show c.630+337_630+338insTATATATATATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0344 a0001c0001t0007g0344	1	418	0.0024	26	c.119 others(43): Show c.119-1910_119-1909insATATATATATATATTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19070.hp1 HG02300.hp1 NA19070.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0008 a0001c0001 a0015c0008	a0001c0001t0005 a0015c0008t0005 a0001c0001t0005 a0015c0008t0005	a0001c0001t0005g0321 a0015c0008t0005g0320 a0001c0001t0005g0321 a0015c0008t0005g0320	2	418	0.0048	26	c.119 others(43): Show c.119-1910_119-1909insATATATATATATATATATATATATAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18970.hp2 HG02155.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0202 a0001c0001t0003g0173 a0001c0001t0003g0202	2	368	0.0054	26	c.406 others(43): Show c.4065+287_4065+312dupATATATATATATATATATATATATAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(19): Show ATATATATATATATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03139.hp2 NA18940.hp1 others(5): Show HG01346.hp2 HG03139.hp2 NA18940.hp1 NA18953.hp1 NA18962.hp2 NA19004.hp2 NA19082.hp1 NA19086.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0002 a0003c0003t0003	a0002c0002t0002g0309 a0003c0003t0002g0083 a0003c0003t0002g0084 others(5): Show a0002c0002t0002g0309 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0094 a0003c0003t0002g0097 a0003c0003t0002g0102 a0003c0003t0003g0069	8	368	0.0217	26	c.406 others(43): Show c.4065+312_4065+313insATATATATATATATATGTATATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	322	0.0031	26	c.295 others(41): Show c.295-753_295-752insAAAATATATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	322	0.0031	26	c.295 others(45): Show c.295-10315_295-10290dupAAAAAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18943.hp1 HG04228.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0070 a0001c0001t0002g0071	2	322	0.0062	26	c.-10 others(43): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF3A_chr10_119028670_119085817	119052366	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	350	0.0029	26	c.219 others(45): Show c.2197-1046_2197-1045insCACACACACACACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar

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Search Results (Total: 10000 hits)