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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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
DYNC2I2_chr9_128628653_128661847	128656801	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	2	368	0.0054	c.-75 others(3): Show c.-75C>T	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/9	chr9	TogoVar
DYNLT5_chr1_66747459_66784047	66752492	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0001 a0001c0001t0023g0001	1	402	0.0025	c.-96 others(3): Show c.-96C>T	DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding	1/5	chr1	TogoVar
DYRK1A_chr21_37361773_37531358	37367023	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02280.hp2 HG02572.hp1 HG02647.hp1 others(2): Show HG02280.hp2 HG02572.hp1 HG02647.hp1 HG02976.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0169 a0001c0001t0170 others(1): Show a0001c0001t0045 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171	a0001c0001t0045g0318 a0001c0001t0045g0320 a0001c0001t0169g0319 others(2): Show a0001c0001t0045g0318 a0001c0001t0045g0320 a0001c0001t0169g0319 a0001c0001t0170g0321 a0001c0001t0171g0323	5	350	0.0143	c.-68 others(4): Show c.-682C>T	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/12	chr21	TogoVar
DYRK2_chr12_67643745_67670406	67648792	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0030 a0001c0001t0056g0030	1	390	0.0026	c.-34 others(4): Show c.-342C>G	DYRK2	ENSG00000127334.11	transcript	ENST00000344096.4	protein_coding	1/3	chr12	TogoVar
DZIP1L_chr3_138056990_138120608	138115356	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0013 a0004c0005t0013	a0004c0005t0013g0144 a0004c0005t0013g0144	1	312	0.0032	c.-11 others(4): Show c.-110C>T	DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding	1/16	chr3	TogoVar
E2F3_chr6_20396879_20498714	20401946	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0111 a0001c0001t0031g0111	1	336	0.0030	c.-28 others(4): Show c.-287C>T	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/7	chr6	TogoVar
E2F6_chr2_11439375_11471161	11466058	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01167.hp1 NA20805.hp2 HG01167.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0055 a0001c0001t0010g0056	2	366	0.0055	c.-17 others(4): Show c.-179C>T	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding	1/7	chr2	TogoVar
E2F6_chr2_11439375_11471161	11466130	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0210 a0001c0001t0018g0210	1	366	0.0027	c.-25 others(4): Show c.-251C>T	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding	1/7	chr2	TogoVar
EBAG9_chr8_109535173_109570996	109540230	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03579.hp1 NA19240.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0023 a0001c0001t0013g0023	2	356	0.0056	c.-24 others(4): Show c.-247C>T	EBAG9	ENSG00000147654.16	transcript	ENST00000337573.10	protein_coding	1/7	chr8	TogoVar
EBF2_chr8_25836725_26050413	26045412	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0220 a0001c0001t0042g0220	1	220	0.0046	c.-55 others(4): Show c.-553G>T	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	1/16	chr8	TogoVar
EBF3_chr10_129830233_129969274	129963927	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01069.hp1 HG01071.hp1 HG02258.hp2 others(7): Show HG01069.hp1 HG01071.hp1 HG02258.hp2 HG02559.hp2 HG02717.hp2 HG02809.hp1 HG03486.hp1 NA19030.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0001c0001t0024 a0001c0001t0051 others(3): Show a0001c0001t0010 a0001c0001t0024 a0001c0001t0051 a0001c0001t0052 a0002c0003t0024 a0002c0003t0053	a0001c0001t0010g0326 a0001c0001t0010g0327 a0001c0001t0010g0328 others(7): Show a0001c0001t0010g0326 a0001c0001t0010g0327 a0001c0001t0010g0328 a0001c0001t0010g0329 a0001c0001t0010g0330 a0001c0001t0024g0325 a0001c0001t0051g0323 a0001c0001t0052g0324 a0002c0003t0024g0331 a0002c0003t0053g0332	10	338	0.0296	c.-15 others(4): Show c.-159C>T	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	1/17	chr10	TogoVar
EBF4_chr20_2687780_2765108	2693405	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0105 a0001c0004t0012g0105	1	388	0.0026	c.-24 others(4): Show c.-241C>T	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	1/17	chr20	TogoVar
EBLN1_chr10_22203475_22223015	22217991	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02896.hp1 HG02922.hp2 HG03139.hp1 others(5): Show HG02896.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0007 a0003c0003t0005 a0003c0003t0007	a0003c0003t0005g0021 a0003c0003t0005g0032 a0003c0003t0007g0020 a0003c0003t0005g0021 a0003c0003t0005g0032 a0003c0003t0007g0020	8	432	0.0185	c.-24 others(4): Show c.-244C>T	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	1/3	chr10	TogoVar
EBLN2_chr3_73056659_73068337	73061902	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00423.hp2 HG00673.hp2 HG00735.hp1 others(139): Show HG00423.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0002 a0003c0003 a0005c0006 others(1): Show a0002c0002 a0003c0003 a0005c0006 a0006c0007	a0002c0002t0002 a0002c0002t0009 a0002c0002t0013 others(7): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0003c0003t0002 a0003c0003t0008 a0003c0003t0024 a0005c0006t0002 a0006c0007t0002	a0002c0002t0002g0000 a0002c0002t0009g0000 a0002c0002t0013g0000 others(7): Show a0002c0002t0002g0000 a0002c0002t0009g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0003c0003t0002g0000 a0003c0003t0008g0000 a0003c0003t0024g0000 a0005c0006t0002g0000 a0006c0007t0002g0000	142	428	0.3318	c.-18 others(4): Show c.-180A>G	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	chr3	TogoVar
EBLN2_chr3_73056659_73068337	73062025	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18979.hp2 NA19000.hp1 NA19004.hp1 NA18979.hp2 NA19000.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0022 a0002c0002t0013 a0002c0002t0022	a0002c0002t0013g0000 a0002c0002t0022g0000 a0002c0002t0013g0000 a0002c0002t0022g0000	3	428	0.0070	c.-57 others(3): Show c.-57G>A	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	chr3	TogoVar
EBNA1BP2_chr1_43159184_43177290	43172174	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp2 HG02602.hp1 HG03491.hp1 others(2): Show HG01109.hp2 HG02602.hp1 HG03491.hp1 HG03492.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0013 a0002c0002t0004g0013	5	392	0.0128	c.-56 others(3): Show c.-56T>C	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding	1/9	chr1	TogoVar
ECE2_chr3_184271022_184298031	184276107	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00639.hp2 HG01081.hp1 HG02040.hp1 others(1): Show HG00639.hp2 HG01081.hp1 HG02040.hp1 HG02293.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0023 a0001c0005t0005g0100 a0001c0005t0005g0023 a0001c0005t0005g0100	4	398	0.0101	c.-47 others(3): Show c.-47G>T	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding	1/19	chr3	TogoVar
ECHDC1_chr6_127283712_127348609	127343516	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(86): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02083.hp1 HG02145.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18942.hp1 NA18954.hp2 NA18980.hp2 NA19002.hp1 NA19004.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19087.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0033 a0001c0001t0002g0034 others(78): Show a0001c0001t0002g0011 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298	89	358	0.2486	c.-18 others(4): Show c.-183C>T	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	1/6	chr6	TogoVar
ECHDC3_chr10_11737382_11769070	11742481	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00323.hp2 HG00544.hp1 HG00597.hp2 others(84): Show HG00323.hp2 HG00544.hp1 HG00597.hp2 HG00673.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03704.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18939.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0002 a0001c0003 a0005c0009 others(2): Show a0001c0002 a0001c0003 a0005c0009 a0008c0016 a0010c0019	a0001c0002t0002 a0001c0003t0002 a0005c0009t0002 others(2): Show a0001c0002t0002 a0001c0003t0002 a0005c0009t0002 a0008c0016t0002 a0010c0019t0002	a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0017 others(48): Show a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0226 a0001c0003t0002g0036 a0001c0003t0002g0062 a0005c0009t0002g0001 a0008c0016t0002g0064 a0010c0019t0002g0043	87	420	0.2071	c.-96 others(3): Show c.-96C>T	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	1/5	chr10	TogoVar
ECPAS_chr9_111355685_111489383	111472964	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0109 a0001c0001t0009g0109	1	354	0.0028	c.-46 others(3): Show c.-46C>T	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/50	chr9	TogoVar
ECPAS_chr9_111355685_111489383	111484156	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0350 a0001c0001t0010g0350	1	354	0.0028	c.-12 others(4): Show c.-123C>T	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	1/50	chr9	TogoVar
ECRG4_chr2_106060688_106083155	106065761	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0052 a0004c0006t0005g0052	1	434	0.0023	c.-4C others(2): Show c.-4C>T	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/4	chr2	TogoVar
ECT2L_chr6_138791087_138909070	138812897	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02622.hp1 HG02630.hp2 HG02895.hp2 others(3): Show HG02622.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG03471.hp1 HG03579.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0022	a0001c0003 a0002c0005 a0010c0017 others(1): Show a0001c0003 a0002c0005 a0010c0017 a0022c0026	a0001c0003t0013 a0002c0005t0013 a0010c0017t0012 others(1): Show a0001c0003t0013 a0002c0005t0013 a0010c0017t0012 a0022c0026t0012	a0001c0003t0013g0222 a0002c0005t0013g0217 a0002c0005t0013g0220 others(3): Show a0001c0003t0013g0222 a0002c0005t0013g0217 a0002c0005t0013g0220 a0010c0017t0012g0219 a0010c0017t0012g0221 a0022c0026t0012g0218	6	326	0.0184	c.-18 others(4): Show c.-184C>T	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	2/22	chr6	TogoVar
ECT2_chr3_172745726_172826474	172750768	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0149 a0001c0001t0014g0149	1	318	0.0031	c.-11 others(4): Show c.-112G>T	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	1/25	chr3	TogoVar
EDDM3A_chr14_20740887_20753380	20745919	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0001 a0001c0002t0009g0001	1	446	0.0022	c.-10 others(4): Show c.-100C>T	EDDM3A	ENSG00000181562.5	transcript	ENST00000326842.3	protein_coding	1/2	chr14	TogoVar
EDDM3A_chr14_20740887_20753380	20745927	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp1 HG02559.hp2 HG02258.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	2	446	0.0045	c.-92 others(3): Show c.-92C>G	EDDM3A	ENSG00000181562.5	transcript	ENST00000326842.3	protein_coding	1/2	chr14	TogoVar
EDDM3A_chr14_20740887_20753380	20747569	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(408): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0008 a0003c0005 a0004c0007 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0004t0001 a0002c0003t0001 a0002c0003t0008 a0002c0008t0001 a0003c0005t0005 a0004c0007t0001 a0005c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0004g0008 a0001c0001t0004g0019 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0005g0009 a0001c0001t0005g0012 a0001c0001t0006g0005 a0001c0001t0010g0002 a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0003g0007 a0001c0002t0003g0020 a0001c0002t0009g0001 a0001c0004t0001g0013 a0001c0004t0001g0021 a0002c0003t0001g0004 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0031 a0002c0003t0008g0004 a0002c0008t0001g0004 a0003c0005t0005g0012 a0004c0007t0001g0001 a0005c0006t0001g0003	411	446	0.9215	c.-12 others(3): Show c.-12G>C	EDDM3A	ENSG00000181562.5	transcript	ENST00000326842.3	protein_coding	2/2	chr14	TogoVar
EDEM1_chr3_5182707_5224958	5187749	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0028 a0001c0007t0028	a0001c0007t0028g0150 a0001c0007t0028g0150	1	374	0.0027	c.-57 others(3): Show c.-57G>A	EDEM1	ENSG00000134109.11	transcript	ENST00000256497.9	protein_coding	1/12	chr3	TogoVar
EDN1_chr6_12285361_12302194	12290550	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0012 a0001c0001t0010g0012	1	452	0.0022	c.-80 others(3): Show c.-80T>C	EDN1	ENSG00000078401.7	transcript	ENST00000379375.6	protein_coding	1/5	chr6	TogoVar
EDN2_chr1_41473775_41489683	41484605	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0071 a0003c0003t0007g0071	1	442	0.0023	c.-4C others(2): Show c.-4C>T	EDN2	ENSG00000127129.10	transcript	ENST00000372587.5	protein_coding	1/5	chr1	TogoVar
EDN2_chr1_41473775_41489683	41484659	T T	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0071 a0003c0003t0007g0071	1	442	0.0023	c.-58 others(3): Show c.-58A>T	EDN2	ENSG00000127129.10	transcript	ENST00000372587.5	protein_coding	1/5	chr1	TogoVar
EDNRB_chr13_77890487_77923831	77918721	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00741.hp2 HG01071.hp2 HG01074.hp1 others(16): Show HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG03654.hp2 HG04184.hp2 NA18947.hp2 NA19064.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0018 a0001c0002t0002g0051 others(2): Show a0001c0002t0002g0006 a0001c0002t0002g0018 a0001c0002t0002g0051 a0001c0002t0002g0157 a0001c0002t0002g0158	19	406	0.0468	c.-14 others(4): Show c.-148A>G	EDNRB	ENSG00000136160.17	transcript	ENST00000646607.2	protein_coding	1/7	chr13	TogoVar
EDRF1_chr10_125714709_125769139	125719727	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01891.hp2 HG02451.hp1 HG02886.hp1 others(3): Show HG01891.hp2 HG02451.hp1 HG02886.hp1 HG03041.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0122 a0001c0001t0003g0148 a0001c0001t0003g0001 a0001c0001t0003g0122 a0001c0001t0003g0148	6	322	0.0186	c.-81 others(3): Show c.-81G>T	EDRF1	ENSG00000107938.18	transcript	ENST00000356792.9	protein_coding	1/25	chr10	TogoVar
EDRF1_chr10_125714709_125769139	125719782	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03209.hp2 HG03579.hp2 HG03209.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	2	322	0.0062	c.-26 others(3): Show c.-26C>T	EDRF1	ENSG00000107938.18	transcript	ENST00000356792.9	protein_coding	1/25	chr10	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57772696	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01496.hp2 HG02486.hp1 HG02886.hp1 others(6): Show HG01496.hp2 HG02486.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03486.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0023 a0001c0001t0006 a0001c0001t0022 a0001c0001t0023	a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0022g0016 others(1): Show a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0022g0016 a0001c0001t0023g0003	9	362	0.0249	c.-29 others(3): Show c.-29G>T	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding	1/3	chr12	TogoVar
EEF2_chr19_3971056_3990463	3985426	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0154 a0001c0001t0014g0154	1	403	0.0025	c.-46 others(3): Show c.-46C>G	EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding	1/15	chr19	TogoVar
EEIG2_chr1_108555100_108644322	108560172	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02647.hp1 HG03453.hp2 NA18522.hp1 HG02647.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0036 a0001c0001t0018 a0001c0001t0036	a0001c0001t0018g0171 a0001c0001t0018g0172 a0001c0001t0036g0264 a0001c0001t0018g0171 a0001c0001t0018g0172 a0001c0001t0036g0264	3	272	0.0110	c.-25 others(4): Show c.-257C>G	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/11	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36153298	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp1 HG01255.hp2 HG01109.hp1 HG01255.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0039 a0002c0003t0038 a0001c0001t0039 a0002c0003t0038	a0001c0001t0039g0002 a0002c0003t0038g0001 a0001c0001t0039g0002 a0002c0003t0038g0001	2	346	0.0058	c.-56 others(4): Show c.-569G>A	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	1/8	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36154178	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02135.hp1 HG02523.hp2 HG02135.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0052 a0001c0001t0051 a0001c0001t0052	a0001c0001t0051g0260 a0001c0001t0052g0261 a0001c0001t0051g0260 a0001c0001t0052g0261	2	346	0.0058	c.-14 others(4): Show c.-147T>G	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/8	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36154191	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0224 a0001c0001t0050g0224	1	346	0.0029	c.-13 others(4): Show c.-134A>G	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/8	chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89954688	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0001 a0001c0002t0043g0001	1	284	0.0035	c.-28 others(3): Show c.-28T>C	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	1/6	chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89954693	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0001 a0001c0002t0043g0001	1	284	0.0035	c.-33 others(3): Show c.-33T>C	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	1/6	chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89954702	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0001 a0001c0002t0043g0001	1	284	0.0035	c.-42 others(3): Show c.-42G>T	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	1/6	chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89954704	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0001 a0001c0002t0043g0001	1	284	0.0035	c.-44 others(3): Show c.-44G>A	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	1/6	chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89954715	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0001 a0001c0002t0043g0001	1	284	0.0035	c.-55 others(3): Show c.-55C>A	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	1/6	chr14	TogoVar
EFCAB12_chr3_129396321_129433636	129428575	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp2 HG00323.hp2 HG00639.hp1 others(37): Show HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02080.hp2 HG02083.hp1 HG02273.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG03927.hp1 HG04228.hp2 NA18951.hp2 NA18959.hp2 NA18968.hp2 NA18974.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0013 others(20): Show a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0005g0259	40	386	0.1036	c.-87 others(3): Show c.-87C>T	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	1/9	chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47326340	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0004 a0017 a0004 a0017	a0004c0003 a0017c0021 a0004c0003 a0017c0021	a0004c0003t0006 a0017c0021t0006 a0004c0003t0006 a0017c0021t0006	a0004c0003t0006g0260 a0017c0021t0006g0261 a0004c0003t0006g0260 a0017c0021t0006g0261	2	356	0.0056	c.-13 others(4): Show c.-133C>T	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	3/25	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47326350	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0213 a0005c0005t0007g0213	1	356	0.0028	c.-12 others(4): Show c.-123C>A	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	3/25	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46718524	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(231): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 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 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18969.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 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19056.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.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0002t0002 a0001c0005t0002 a0003c0003t0002 a0005c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(178): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0028 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0121 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0006g0012 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0007g0014 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0128 a0001c0001t0008g0107 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0010g0027 a0001c0001t0010g0096 a0001c0001t0013g0289 a0001c0001t0013g0290 a0001c0001t0013g0291 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0015g0118 a0001c0001t0015g0119 a0001c0001t0017g0257 a0001c0001t0017g0267 a0001c0001t0018g0053 a0001c0001t0019g0050 a0001c0001t0020g0054 a0001c0001t0021g0041 a0001c0001t0023g0120 a0001c0001t0024g0122 a0001c0001t0025g0114 a0001c0001t0026g0113 a0001c0001t0033g0225 a0001c0001t0034g0259 a0001c0001t0035g0241 a0001c0001t0036g0278 a0001c0001t0037g0247 a0001c0002t0002g0009 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0069 a0001c0005t0002g0038 a0003c0003t0002g0008 a0003c0003t0002g0024 a0005c0008t0002g0049	234	374	0.6257	c.-43 others(4): Show c.-437T>C	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	1/11	chr1	TogoVar
EFEMP1_chr2_55860967_55928782	55922930	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19009.hp1 NA19054.hp2 NA19058.hp2 NA19009.hp1 NA19054.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	3	350	0.0086	c.-39 others(3): Show c.-39C>A	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	2/12	chr2	TogoVar

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