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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ECI2_chr6_4110706_4140575	4133719	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02965.hp2 HG03098.hp1 others(2): Show HG02647.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03516.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0001 a0002c0002t0001 a0007c0010t0001 a0001c0001t0001 a0002c0002t0001 a0007c0010t0001	a0001c0001t0001g0022 a0002c0002t0001g0072 a0007c0010t0001g0071 a0001c0001t0001g0022 a0002c0002t0001g0072 a0007c0010t0001g0071	5	370	0.0135	0	c.51- others(4): Show c.51-8A>G		ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding	1/9					chr6	TogoVar
ECM1_chr1_150503109_150518789	150512577	G G	GTC GTC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp2 HG02145.hp1 HG02257.hp1 others(13): Show HG01175.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03540.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0002 a0003c0005t0002 a0003c0004t0002 a0003c0005t0002	a0003c0004t0002g0010 a0003c0004t0002g0030 a0003c0004t0002g0031 others(1): Show a0003c0004t0002g0010 a0003c0004t0002g0030 a0003c0004t0002g0031 a0003c0005t0002g0011	16	420	0.0381	2	c.130 others(15): Show c.1304+6_1304+7insCT		ECM1	ENSG00000143369.15	transcript	ENST00000369047.9	protein_coding	8/9				INFO_REALIGN_3_PRIME	chr1	TogoVar
ECM2_chr9_92490315_92540990	92517688	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02698.hp1 HG02735.hp2 HG03688.hp2 others(1): Show HG02698.hp1 HG02735.hp2 HG03688.hp2 HG04184.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0175 a0001c0008t0002g0176 a0001c0008t0002g0177 others(1): Show a0001c0008t0002g0175 a0001c0008t0002g0176 a0001c0008t0002g0177 a0001c0008t0002g0183	4	400	0.0100	0	c.480 others(3): Show c.480T>C	p.Thr others(6): Show p.Thr160Thr	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	3/10	565/3185	480/2100	160/699		chr9	TogoVar
ECPAS_chr9_111355685_111489383	111362176	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00544.hp2 HG00558.hp1 others(76): Show HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01358.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02135.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03490.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03942.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA20129.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0007 a0001c0001 a0001c0013 a0004c0007	a0001c0001t0001 a0001c0001t0010 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0013t0001 a0004c0007t0001	a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0163 others(76): Show a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0010g0350 a0001c0013t0001g0237 a0004c0007t0001g0152 a0004c0007t0001g0153 a0004c0007t0001g0162 a0004c0007t0001g0349	79	354	0.2232	-1	c.538 others(7): Show c.5381-8delT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	49/49					chr9	TogoVar
ECPAS_chr9_111355685_111489383	111371827	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0007 a0008c0011t0001g0007	1	354	0.0028	0	c.453 others(4): Show c.4531T>C	p.Ser others(7): Show p.Ser1511Pro	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	43/50	4881/7215	4531/5520	1511/1839		chr9	TogoVar
ECPAS_chr9_111355685_111489383	111378729	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00673.hp2 HG00673.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0069 a0006c0012t0001g0069	1	354	0.0028	0	c.380 others(4): Show c.3805A>G	p.Ile others(7): Show p.Ile1269Val	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	36/50	4155/7215	3805/5520	1269/1839		chr9	TogoVar
ECRG4_chr2_106060688_106083155	106065842	A A	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0052 a0004c0006t0005g0052	1	434	0.0023	0	c.78A others(2): Show c.78A>T	p.Pro others(5): Show p.Pro26Pro	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/4	155/753	78/447	26/148		chr2	TogoVar
ECRG4_chr2_106060688_106083155	106065848	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0052 a0004c0006t0005g0052	1	434	0.0023	0	c.79+ others(4): Show c.79+5G>C		ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3					chr2	TogoVar
ECSCR_chr5_139443560_139467743	139454929	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	369	0.0027	0	c.377 others(5): Show c.377-6G>C		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	6/9					chr5	TogoVar
ECSCR_chr5_139443560_139467743	139455316	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.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 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.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.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(154): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0079 a0002c0002t0001g0140	369	369	1.0000	0	c.376 others(5): Show c.376+7C>G		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	6/9					chr5	TogoVar
ECT2L_chr6_138791087_138909070	138812975	C C	T T	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(97): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00741.hp2 HG01081.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG02015.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0009 a0010 a0012 a0017 a0022	a0001c0001 a0001c0003 a0001c0009 others(13): Show a0001c0001 a0001c0003 a0001c0009 a0001c0021 a0001c0022 a0001c0034 a0002c0002 a0002c0005 a0003c0004 a0006c0011 a0006c0015 a0009c0012 a0010c0017 a0012c0019 a0017c0035 a0022c0026	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(24): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0022 a0001c0001t0024 a0001c0003t0003 a0001c0003t0013 a0001c0009t0004 a0001c0021t0004 a0001c0022t0003 a0001c0034t0023 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0005t0013 a0003c0004t0004 a0003c0004t0007 a0003c0004t0011 a0003c0004t0025 a0006c0011t0014 a0006c0011t0021 a0006c0015t0003 a0009c0012t0003 a0010c0017t0012 a0012c0019t0011 a0017c0035t0003 a0022c0026t0012	a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0018 others(97): Show a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0095 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0003g0215 a0001c0001t0003g0230 a0001c0001t0003g0291 a0001c0001t0004g0040 a0001c0001t0004g0094 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0144 a0001c0001t0004g0157 a0001c0001t0004g0195 a0001c0001t0004g0197 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0229 a0001c0001t0004g0249 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0007g0006 a0001c0001t0022g0287 a0001c0001t0024g0031 a0001c0003t0003g0001 a0001c0003t0003g0020 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0132 a0001c0003t0003g0135 a0001c0003t0003g0196 a0001c0003t0003g0198 a0001c0003t0003g0214 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0003g0235 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0248 a0001c0003t0013g0222 a0001c0009t0004g0121 a0001c0021t0004g0143 a0001c0022t0003g0142 a0001c0034t0023g0016 a0002c0002t0003g0022 a0002c0002t0003g0145 a0002c0002t0003g0148 a0002c0002t0004g0002 a0002c0002t0004g0096 a0002c0002t0004g0131 a0002c0002t0004g0139 a0002c0002t0004g0147 a0002c0002t0004g0216 a0002c0002t0004g0228 a0002c0002t0004g0234 a0002c0002t0007g0166 a0002c0002t0007g0233 a0002c0002t0007g0247 a0002c0002t0007g0288 a0002c0005t0013g0217 a0002c0005t0013g0220 a0003c0004t0004g0241 a0003c0004t0004g0242 a0003c0004t0004g0243 a0003c0004t0007g0320 a0003c0004t0007g0321 a0003c0004t0007g0322 a0003c0004t0007g0324 a0003c0004t0011g0325 a0003c0004t0025g0244 a0006c0011t0014g0013 a0006c0011t0014g0237 a0006c0011t0021g0236 a0006c0015t0003g0238 a0006c0015t0003g0239 a0009c0012t0003g0021 a0010c0017t0012g0219 a0010c0017t0012g0221 a0012c0019t0011g0151 a0012c0019t0011g0168 a0017c0035t0003g0159 a0022c0026t0012g0218	100	326	0.3068	0	c.-10 others(4): Show c.-106C>T		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	2/22					chr6	TogoVar
ECT2L_chr6_138791087_138909070	138864991	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02559.hp1 HG02970.hp1 others(2): Show HG02486.hp2 HG02559.hp1 HG02970.hp1 HG03540.hp2 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0018 a0008c0031 a0001c0001 a0001c0018 a0008c0031	a0001c0001t0007 a0001c0001t0008 a0001c0001t0029 others(2): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0029 a0001c0018t0020 a0008c0031t0017	a0001c0001t0007g0006 a0001c0001t0008g0250 a0001c0001t0029g0262 others(2): Show a0001c0001t0007g0006 a0001c0001t0008g0250 a0001c0001t0029g0262 a0001c0018t0020g0007 a0008c0031t0017g0316	5	326	0.0153	0	c.129 others(6): Show c.1292-5G>A		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	11/21					chr6	TogoVar
ECT2L_chr6_138791087_138909070	138876472	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp1 HG00558.hp2 HG00597.hp2 others(72): Show HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG02015.hp2 HG02027.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03490.hp1 HG03491.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19086.hp1 NA20805.hp1 NA20905.hp2	a0002 a0010 a0020 others(1): Show a0002 a0010 a0020 a0021	a0002c0002 a0002c0005 a0010c0017 others(2): Show a0002c0002 a0002c0005 a0010c0017 a0020c0029 a0021c0028	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0017 a0002c0002t0019 a0002c0002t0026 a0002c0002t0027 a0002c0005t0002 a0002c0005t0013 a0010c0017t0012 a0020c0029t0001 a0021c0028t0002	a0002c0002t0001g0024 a0002c0002t0001g0038 a0002c0002t0001g0041 others(72): Show a0002c0002t0001g0024 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0097 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0117 a0002c0002t0001g0162 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0189 a0002c0002t0001g0205 a0002c0002t0001g0253 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0002g0057 a0002c0002t0002g0077 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0003g0022 a0002c0002t0003g0145 a0002c0002t0003g0148 a0002c0002t0004g0002 a0002c0002t0004g0096 a0002c0002t0004g0131 a0002c0002t0004g0139 a0002c0002t0004g0147 a0002c0002t0004g0216 a0002c0002t0004g0228 a0002c0002t0004g0234 a0002c0002t0005g0290 a0002c0002t0006g0033 a0002c0002t0006g0224 a0002c0002t0006g0261 a0002c0002t0006g0284 a0002c0002t0007g0166 a0002c0002t0007g0233 a0002c0002t0007g0247 a0002c0002t0007g0288 a0002c0002t0008g0064 a0002c0002t0008g0118 a0002c0002t0008g0119 a0002c0002t0008g0120 a0002c0002t0008g0153 a0002c0002t0017g0010 a0002c0002t0019g0091 a0002c0002t0019g0167 a0002c0002t0026g0039 a0002c0002t0027g0062 a0002c0005t0002g0069 a0002c0005t0002g0070 a0002c0005t0002g0223 a0002c0005t0002g0323 a0002c0005t0013g0217 a0002c0005t0013g0220 a0010c0017t0012g0219 a0010c0017t0012g0221 a0020c0029t0001g0054 a0021c0028t0002g0089	75	326	0.2301	0	c.157 others(4): Show c.1579G>A	p.Glu others(6): Show p.Glu527Lys	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	14/22	1928/4507	1579/2715	527/904		chr6	TogoVar
ECT2L_chr6_138791087_138909070	138882871	GGTAAATG others(7): Show GGTAAATGAGTTTCA	G G	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG00621.hp1 HG03710.hp1 others(4): Show HG00558.hp2 HG00621.hp1 HG03710.hp1 NA18980.hp1 NA18983.hp2 NA19011.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0109 a0001c0001t0001g0165 a0001c0001t0001g0266 others(4): Show a0001c0001t0001g0109 a0001c0001t0001g0165 a0001c0001t0001g0266 a0001c0001t0001g0293 a0001c0001t0004g0144 a0001c0001t0006g0256 a0002c0002t0001g0162	7	326	0.0215	-14	c.202 others(28): Show c.2028+1_2028+14delGTAAATGAGTTTCA		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	16/21					chr6	TogoVar
ECT2_chr3_172745726_172826474	172755573	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02165.hp2 HG02165.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0003 a0008c0012t0003	a0008c0012t0003g0221 a0008c0012t0003g0221	1	318	0.0031	0	c.301 others(3): Show c.301A>G	p.Met others(6): Show p.Met101Val	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	4/25	455/4136	301/2745	101/914		chr3	TogoVar
ECT2_chr3_172745726_172826474	172769000	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0130 a0001c0001t0012g0130	1	318	0.0031	0	c.129 others(6): Show c.1292-7G>A		ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	12/24					chr3	TogoVar
ECT2_chr3_172745726_172826474	172786574	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02559.hp1 NA18959.hp1 HG02559.hp1 NA18959.hp1	a0005 a0006 a0005 a0006	a0005c0007 a0006c0008 a0005c0007 a0006c0008	a0005c0007t0002 a0006c0008t0001 a0005c0007t0002 a0006c0008t0001	a0005c0007t0002g0004 a0006c0008t0001g0076 a0005c0007t0002g0004 a0006c0008t0001g0076	2	318	0.0063	0	c.190 others(4): Show c.1907C>T	p.Thr others(6): Show p.Thr636Met	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	18/25	2061/4136	1907/2745	636/914		chr3	TogoVar
ECT2_chr3_172745726_172826474	172816692	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18959.hp1 NA18959.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0004 a0005c0007t0002g0004	1	318	0.0031	0	c.251 others(4): Show c.2510T>A	p.Val others(6): Show p.Val837Asp	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	24/25	2664/4136	2510/2745	837/914		chr3	TogoVar
EDARADD_chr1_236389286_236489930	236394504	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00438.hp1 HG00544.hp1 HG00673.hp2 others(37): Show HG00438.hp1 HG00544.hp1 HG00673.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02602.hp1 HG02738.hp1 HG04115.hp1 HG04199.hp2 NA18939.hp2 NA18945.hp2 NA18953.hp1 NA18960.hp2 NA18967.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19054.hp2 NA19062.hp1 NA19063.hp1 NA19074.hp1 NA19080.hp2 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0005t0005	a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0015 others(37): Show a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0002g0004 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0011 a0001c0003t0002g0014 a0001c0003t0002g0031 a0001c0003t0002g0038 a0001c0003t0002g0040 a0001c0003t0003g0022 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0004g0008 a0001c0003t0004g0010 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0027 a0001c0003t0004g0028 a0001c0003t0004g0036 a0001c0003t0009g0021 a0001c0003t0009g0043 a0001c0005t0005g0005 a0001c0005t0005g0009 a0001c0005t0005g0018 a0001c0005t0005g0033 a0001c0005t0005g0035 a0001c0005t0005g0041	40	294	0.1361	0	c.60G others(2): Show c.60G>A	p.Glu others(5): Show p.Glu20Glu	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/6	219/3088	60/648	20/215		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236427386	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	294	0.0034	0	c.161 others(5): Show c.161-6T>C		EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	3/5					chr1	TogoVar
EDAR_chr2_108889471_108994220	108923457	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00408.hp1 HG00738.hp1 others(30): Show HG00099.hp1 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01175.hp1 HG01358.hp1 HG01891.hp1 HG02145.hp1 HG02257.hp2 HG02622.hp2 HG02723.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp2 NA18945.hp1 NA18970.hp1 NA18974.hp2 NA18984.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19011.hp2 NA19030.hp2 NA20129.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0012	a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 others(6): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0013 a0001c0002t0016 a0001c0002t0017 a0001c0004t0003 a0005c0012t0004	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 others(30): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0002t0003g0126 a0001c0002t0003g0153 a0001c0002t0004g0035 a0001c0002t0004g0079 a0001c0002t0004g0095 a0001c0002t0004g0102 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0115 a0001c0002t0004g0117 a0001c0002t0004g0120 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0172 a0001c0002t0004g0180 a0001c0002t0004g0185 a0001c0002t0004g0197 a0001c0002t0007g0059 a0001c0002t0007g0060 a0001c0002t0007g0080 a0001c0002t0007g0082 a0001c0002t0013g0052 a0001c0002t0013g0207 a0001c0002t0016g0127 a0001c0002t0017g0012 a0001c0004t0003g0090 a0005c0012t0004g0113	33	226	0.1460	0	c.357 others(5): Show c.357-4G>A		EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	4/11					chr2	TogoVar
EDAR_chr2_108889471_108994220	108931036	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG02258.hp1 HG02559.hp1 others(1): Show HG01243.hp2 HG02258.hp1 HG02559.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0006 a0001c0005t0003 a0001c0005t0006	a0001c0005t0003g0048 a0001c0005t0003g0125 a0001c0005t0006g0137 others(1): Show a0001c0005t0003g0048 a0001c0005t0003g0125 a0001c0005t0006g0137 a0001c0005t0006g0200	4	226	0.0177	0	c.-18 others(5): Show c.-18-4T>C		EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	1/11					chr2	TogoVar
EDC3_chr15_74625558_74701024	74655734	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0191 a0001c0005t0002g0191	1	286	0.0035	0	c.819 others(3): Show c.819G>A	p.Thr others(6): Show p.Thr273Thr	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	4/7	982/3744	819/1527	273/508		chr15	TogoVar
EDC4_chr16_67868052_67889499	67881491	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG02896.hp1 HG03195.hp1 others(4): Show HG02622.hp1 HG02896.hp1 HG03195.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	7	240	0.0292	0	c.279 others(6): Show c.2790-6T>C		EDC4	ENSG00000038358.15	transcript	ENST00000358933.10	protein_coding	20/28					chr16	TogoVar
EDDM13_chr19_56267748_56315454	56282492	GCTGAAAG others(294): Show GCTGAAAGGTAAGCTTCTCATTCCATCTCTTTCCCTTTGGGGTCTGTTTG CCTTTGTCCAAAAGGGATCATTGCTGCTGAACTTCGACTTACGTTTCTTC TCTGGTCTGTTCACAGCTTAGCTTCTAATAGCGGAACTAGTAAAACCAAG TGTGGAATTGTCCTTTGATGAACAACAACAACAACAAAAGCCCTTTTACT TGTCTCCCCTCAAAGCCACTTGTCCAGAAACTGAGCACTCTTTCATGGTC CGCACATGGCTCAAGGAAAGCTATTAGGTCTGAGAGCTCAATTCAGGTCT AC	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18956.hp2 NA18956.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0291 a0004c0008t0001g0291	1	396	0.0025	-301	c.116 others(11): Show c.116_118+298del	p.Lys others(17): Show p.Lys39_Gly40delinsArg	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	4/15	203/879	116/486	39/161	INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56284206	G G	GGTAA GGTAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02818.hp1 NA20300.hp2 HG01891.hp2 HG02818.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0110 a0001c0001t0002g0187 a0001c0001t0002g0188	3	396	0.0076	4	c.127 others(15): Show c.127+4_127+7dupAGTA		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	5/14				INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56290059	GTGGTTTC others(4278): Show GTGGTTTCCCCAAACTGGCTAATTATCTGAAACTTTTTCAAAAAGACAGA TTTCTTTGTTCTACCTGGACCTTCTGCATGAGAATACCAAGGGGTGGGTC CCAGGAATCTGTCCTTTCAAAAGGTTTCTCAGGTGCTTCTGATGGTTTGG CTCAGATGGTTTGAGAACTACTGAGATAAAGTAGGACTCAGCAGAAAGGC CCACTGCTTGTTTTTATAAATAAAGTTTTACTGACACACAATCACACCCA TTCATTTAGGTATTATTTGTAGTTGTCTTTGTGCTCTAATGGCAGAGCTG CATAGTTGTGACTGGGGCCATGTGGCCTGCAAAGCCTACACTATTTACTG TCTGACCCTTTAGAGGTCAGACATTTATTGACCTCTGAGCTAGAGCAGTG CTTCTCAGGGTCTTTGTTTAAAATTAGGGCCTAGGACCCTACTTCATATC TAAAGAAGGAGGATGTCTGTGATGGAACTCTAAGCTCTTGAGTTTGCTTC CCAAATGGTGATTCTTTGGGTTGGACACGGTGGCTCATGCCTATAATCCC AGCACTTTGGGAGGCTGTGGTGGGAGGAAGGCTTGAGCCCAGGAGTTTAA GATCAGCCTGGGCAACATAGGAAGACCCCCTTCTCTATGAAATATAAATA CATAAACAGTTTAAAATAGTTTTACGATATTGAATGGAGGAATAATTGAA TGTCCTATACTGCTGATTCTATTCTCTTGCTCACTCTTCTCCACACTGAC TCCCCGAATGCTGGTTCTGCTACTTCCTCCAGTAAAAAGTAAGTTATTTT TCCTTTCCTATGGGTCACTTGGAAGTTTTCAGGTGCTGGGAAGAAGAGGC AACTATCCAAAGAAGGGAATCTTTGGATAGTTCTTCTCAATGTAGAACAC AAGTTGAGAGGGACCCTCCATCTGCTGCTCCCCTCTCTGAAGGGGTTTCA GGGTGGGCTGCAAGCCCCAGATTGTGTGGAGAGCCGTGAGGGTGTGTCTG GGATACGGTGGGTCTGGGGCTACATGCAGGACTGAGTATGTGAGCCCTTG GCATATCACGTCCCCGAGCTCACAGGACCGTTGCCCCAGAAGACAAGAAA GCATTGAGTTGTACATATTTGTTGGGAGGGCCATTGAGAAGAGAACCAAA GAGGGGCACCTTGCTCCTTCCTCAAGCTCCCTCCTGACCCTCGGGGGAGA AATGAGAGAGAACCCTGGAGACTCAAAGGGATGCTCTAGTATCTTCCTAA TCTCTGGAAGATGAATCCCCACGGAAACTGAATACCTGGGGCTTCTGTCC ACCTGGATTAATGCGTCTCTAAAGGAGTAAAGTCTCAAAGAAGCATCTCG AGTCACCCACCCTGGGCCCCAGCCTATCGCATTAATCTGGAAGACACTTT ATTTCTCTTTTTTGGGAAGATCTGTTTTGAGAACCACAGGGTGGGAGGAG CTAGGAAGAAGGCGTTATTAATTTCTTCCTTTTCCTCTCCTCTCCTTCCT TCCTTCCTCCACTGCTGCCCAACAATGCCCACTGGATCTTCTGCTCCTGG CATCTCATCTCAACAGCACTGAAACCTAAGAGTCTTGTTTCACATTTGAC CCCTTCTGTTTTGCTCCTGTTCTCATCTCTGCCAAGGGAGGTCCACTCTT AGCCATGGATCAACTCTCAGCTTTTGACCATCTTTTTTTTTTAAACTCAA GAACTGGGAAAAAATAGCTATATTACCATCATCTTCAAATAGATGGGATG TCTCATGGAAACCAATCCCTCCTCGAATCAGGCATTCATGTAATGCCATG ATGAGGATGGTGATGACAGTGATGGAAATTTACAAAGAGCTTTCTAGGTG CCAGGCGCGAGGCACCAGAGCAGCACTTTTCAATGTGTTATGTGTAGTTA TTCCCCACAACTTCTTCACAAGGCAAGTATTATTCATCTGCACTTGACTG AGGTATAAAGGTTAGGTAACTAGATCAAGACTGGGCATCCCAGTGGTGAC GGTGGGTTACGGATCCTGGGCTGCGTGACTCAGCTGCTTAACCACGGTGC TGTGCTTCCTCCCACTGCTGTGTGGCTCAGACTTATTTTCCCCAAGAACA TCTCTGACCATTTCATCATGCTGTTCCCTGAAAAAGTCACTGTTTGCCAC ATGTGGGTAACATACATCTTTTAAAAAGTCTTGAAATTGTAGTAAAATAT ACAAAACATGAAATTTACCATTGTAACTTGTTTTCATTTTTTAGAGACAG GATCTTGCTCTGTTGTCCAGGCTGGAGCACAGTGGTGCAGACCTCCTGGG CTCAAGCGATCCTTCTTTCTTAGCCTCCTGAGGAACTGGGACTACAGGTG TGCATCATCACACCTAGCTAATTATTTTTGGTTTTTTTGTCTGTTTTTAC TTTTTTTTTTTTTACTTTTTTGTTTTGCTTTGTTGCCAAGGCTGGTCTTC AATTCCGGGGCTCAAGCAATCCTCCTACCTCAGCCTCCCAAAGCACTGGG ATCACAGGCACGAGCCACTGCACCCACCTTAACCACTTTAAAGTGTGCGA TTTAGTGGCCCTTGGTACACACACAATGGTGTGCAACCATCACCACTGAC TCCAGAACTTTATAATCACTGCCCCACCAAAAAAAAAGTACCCATTAAAC AGTCAGTCCCCATTCTCCCTCTGACCTCAGCCCCGGCAACCACCATTTCA CTTTCTGTCTCTGCAAGTTTGAGGATTCTAGGTACCTCATAGAAGTAGAA TCGTACACGATGTGGTCTTTTGTGTCTGGCTTCATCACTCAGCACAGTGT CCTCAAGGTTCAGCCACATTGTGGCCTGTGACAGTGCTTCACTCCTTTTC ATGGCTGAGCAATACTCCATTGCATGGATAGACTGCATTTTTTAATCCAA TCATCCACTGATTGAATTTTGGGTTGATTCTACCTTTCGGCTGAGGACAC ACTCTTCTTTTGGTCCACATTCAAAGCCATCTAAACCCCAGTTCTGAGAC ACCATCCTGTCCATGCCCCACACCCACCTCCAAACCCCACTTCTATGCAG CTTGAGCCTCAGTGAAACCCAAGACATCCTGATCTGAAAAAACAAATTGA AAAATGGTATCCTGCAGCTCAAGAGCACGTTCTGGGTACCAGGCATGGTT GTTAAGTGCTTGACTCATGACAGTCCCCAAGTCATCGTCCTTGTTTTACA ACTGAAAACACTGTGGTAAGAGAGGGAGAGTCGCTTGCTCATGGTCACAC AGCCAGTCAGGTGCAGAGAATAACTTAAGCCCAGTCTGGATCCCAAACGG TGCTATTAAACAATGCAAACTCAAAAGTGTTCAAAGCGGCTCAGACTAAC GAGGTCCCTGCCTCATCCCTACACTGGAAGTATTATCATTATAATTGTAT GTTGTATATATTGTAAGGAAGATAAAATTATGCTAAGAAAGGGAAAGAGG AACTGGCAGAGAGTGTGCACTGTGGGCGCCGGTCCTGACTGCACCACTTT CTAGTTCCGTGGGCTTCGGACCCTCGCCTCCTGAAGGGCTCAGGCCCCTG GTCGGTACAATGCACATAATAGTTCCAGCCTCATATGGTTGTGAGGAGTA AACAGGATCATGCACTTGGCAGGATGATTCCCAATTGGGGAGATTTCGCC CCTCAGGGGACACCTGGCAATGCCTAGAGATATTTTTGGTTGTGAGGACT CAGGGAGGTGGTAGGGGAGGCTAACGGCATCTAATGGGGGGAGTCTCGAG ATGTTGCTACACATCCTACAATGCACAGGACACCCCACCCCCACAACAAA AAAACTATCCAGCCCCAAATGTCACTCGTCTGGAGGTTGAGAAACCCCCC GCTGAATAAAATGTCTGGCACGGGATAAGAGCTCAGCAAGGGTCTGTGAG GACCACCTCATTTACCTTTGTTCTGAACACTCCCATGTCTGCAGGAGGCC CCTCTGCCTTGCTCCTTTCGCTCCTTTTCCCAGGCCCTTCTCCAGCCTCC GTCCTCATGCTGCACTGACAGCACTTTGCAAACTGAAAGCAGACCCAGCA GGAAAATCCCAAACACCTGCCTAAGGGCCCACCAGGTGCCAAGCAGACCC AGCCCTGCTCCAGTAACGAGCAAAAGCCAAACCCAGCAGGAAAATCCCAA ACACCTGCCTAAGGGCCCACCAGGTGCCAAGCTCTGTACTGGGCGATTCA CGTGGGCTCTTTCTCCCGGACCCTCACATTAACCCAGGATGCAAGTGGTT CGGTGGAGACAGCCTGAGTTTTAAGGCAAAGAGGCC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19004.hp2 NA19004.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0097 a0005c0006t0001g0097	1	396	0.0025	-4285	c.227 others(16): Show c.227-778_233-1612del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	9/15				INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM3B_chr14_20763404_20775948	20768506	G G	T T	splice_region_variant splice_region_variant	LOW	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0003 a0001c0003t0009g0003	1	480	0.0021	0	c.-19 others(3): Show c.-19G>T		EDDM3B	ENSG00000181552.4	transcript	ENST00000326783.4	protein_coding	1/2					chr14	TogoVar
EDDM3B_chr14_20763404_20775948	20770134	C C	T T	splice_region_variant splice_region_variant	LOW	HG01934.hp1 HG02486.hp2 HG02615.hp2 others(2): Show HG01934.hp1 HG02486.hp2 HG02615.hp2 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0017 a0001c0004t0006g0026 a0001c0004t0006g0017 a0001c0004t0006g0026	5	480	0.0104	0	c.-17 others(3): Show c.-17C>T		EDDM3B	ENSG00000181552.4	transcript	ENST00000326783.4	protein_coding	2/2					chr14	TogoVar
EDDM3B_chr14_20763404_20775948	20770135	G G	A A	splice_region_variant splice_region_variant	LOW	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0005 a0002c0002t0007g0005	1	480	0.0021	0	c.-16 others(3): Show c.-16G>A		EDDM3B	ENSG00000181552.4	transcript	ENST00000326783.4	protein_coding	2/2					chr14	TogoVar
EDEM1_chr3_5182707_5224958	5213522	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0007 a0001c0013t0009g0007	1	374	0.0027	0	c.188 others(4): Show c.1884C>T	p.Asn others(6): Show p.Asn628Asn	EDEM1	ENSG00000134109.11	transcript	ENST00000256497.9	protein_coding	11/12	1983/6113	1884/1974	628/657		chr3	TogoVar
EDEM3_chr1_184685237_184759858	184721290	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0006 a0006c0012t0006	a0006c0012t0006g0154 a0006c0012t0006g0154	1	324	0.0031	0	c.950 others(3): Show c.950C>T	p.Thr others(6): Show p.Thr317Ile	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	9/20	1162/6837	950/2799	317/932		chr1	TogoVar
EDIL3_chr5_83935554_84389880	84064701	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00438.hp2 HG00558.hp1 HG00639.hp2 others(19): Show HG00438.hp2 HG00558.hp1 HG00639.hp2 HG01168.hp1 HG01243.hp2 HG02015.hp2 HG02523.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 NA18957.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0014 a0001c0007t0001	a0001c0002t0001g0011 a0001c0002t0001g0066 a0001c0002t0001g0102 others(19): Show a0001c0002t0001g0011 a0001c0002t0001g0066 a0001c0002t0001g0102 a0001c0002t0001g0112 a0001c0002t0001g0129 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0003g0052 a0001c0002t0003g0064 a0001c0002t0003g0101 a0001c0002t0004g0062 a0001c0002t0004g0113 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0007g0057 a0001c0002t0008g0005 a0001c0002t0011g0001 a0001c0002t0014g0068 a0001c0007t0001g0126	22	158	0.1392	0	c.951 others(3): Show c.951G>A	p.Ser others(6): Show p.Ser317Ser	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	8/11	1457/4814	951/1443	317/480		chr5	TogoVar
EDN1_chr6_12285361_12302194	12292341	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0003 a0004c0005t0001g0003	1	452	0.0022	0	c.65C others(2): Show c.65C>A	p.Ala others(5): Show p.Ala22Glu	EDN1	ENSG00000078401.7	transcript	ENST00000379375.6	protein_coding	2/5	334/2035	65/639	22/212		chr6	TogoVar
EDN2_chr1_41473775_41489683	41481197	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	442	0.0023	0	c.345 others(5): Show c.345-4G>A		EDN2	ENSG00000127129.10	transcript	ENST00000372587.5	protein_coding	3/4					chr1	TogoVar
EDN2_chr1_41473775_41489683	41484534	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0071 a0003c0003t0007g0071	1	442	0.0023	0	c.64+ others(4): Show c.64+4A>G		EDN2	ENSG00000127129.10	transcript	ENST00000372587.5	protein_coding	1/4					chr1	TogoVar
EDN2_chr1_41473775_41489683	41484539	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0071 a0003c0003t0007g0071	1	442	0.0023	0	c.63A others(2): Show c.63A>T	p.Glu others(5): Show p.Glu21Asp	EDN2	ENSG00000127129.10	transcript	ENST00000372587.5	protein_coding	1/5	145/1253	63/537	21/178		chr1	TogoVar
EDN2_chr1_41473775_41489683	41484540	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0071 a0003c0003t0007g0071	1	442	0.0023	0	c.62A others(2): Show c.62A>C	p.Glu others(5): Show p.Glu21Ala	EDN2	ENSG00000127129.10	transcript	ENST00000372587.5	protein_coding	1/5	144/1253	62/537	21/178		chr1	TogoVar
EDNRA_chr4_147476097_147549954	147540366	TTTTGCTC others(24): Show TTTTGCTCTAGTTTCTTACTGCTCATGGATTA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0204 a0003c0004t0007g0204	1	280	0.0036	-31	c.103 others(43): Show c.1035-10_1055delTTTGCTCTAGTTTCTTACTGCTCATGGATTA	p.Phe others(13): Show p.Phe346_Tyr352del	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	7/8		1035/1284	345/427		chr4	TogoVar
EDNRA_chr4_147476097_147549954	147542480	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0003 a0001c0005t0005g0003	1	280	0.0036	0	c.114 others(4): Show c.1146A>G	p.Ser others(6): Show p.Ser382Ser	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	8/8	1496/3970	1146/1284	382/427		chr4	TogoVar
EEA1_chr12_92765637_92934295	92799093	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00639.hp1 HG00642.hp2 others(23): Show HG00140.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01433.hp2 HG02071.hp1 HG02129.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 NA18747.hp1 NA18906.hp2 NA19004.hp2 NA19043.hp2 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0003 a0001c0002t0019 a0001c0002t0032 others(3): Show a0001c0002t0003 a0001c0002t0019 a0001c0002t0032 a0001c0002t0045 a0003c0005t0003 a0003c0005t0042	a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 others(23): Show a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0019g0127 a0001c0002t0019g0128 a0001c0002t0032g0045 a0001c0002t0045g0036 a0003c0005t0003g0020 a0003c0005t0003g0021 a0003c0005t0003g0022 a0003c0005t0003g0031 a0003c0005t0003g0032 a0003c0005t0003g0033 a0003c0005t0003g0034 a0003c0005t0003g0035 a0003c0005t0003g0239 a0003c0005t0042g0038	26	244	0.1066	1	c.277 others(7): Show c.2773-8dupT		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	20/28					chr12	TogoVar
EEA1_chr12_92765637_92934295	92842583	TAACAA TAACAA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0240 a0002c0004t0014g0241 a0002c0004t0014g0242 others(1): Show a0002c0004t0014g0240 a0002c0004t0014g0241 a0002c0004t0014g0242 a0002c0004t0014g0243	4	244	0.0164	-5	c.799 others(16): Show c.799-7_799-3delTTGTT		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	9/28					chr12	TogoVar
EEA1_chr12_92765637_92934295	92864856	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02257.hp2 HG02451.hp2 others(2): Show HG02055.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG03486.hp1	a0002 a0008 a0002 a0008	a0002c0004 a0008c0014 a0002c0004 a0008c0014	a0002c0004t0018 a0002c0004t0041 a0008c0014t0006 a0002c0004t0018 a0002c0004t0041 a0008c0014t0006	a0002c0004t0018g0202 a0002c0004t0018g0210 a0002c0004t0018g0211 others(2): Show a0002c0004t0018g0202 a0002c0004t0018g0210 a0002c0004t0018g0211 a0002c0004t0041g0201 a0008c0014t0006g0204	5	244	0.0205	0	c.245 others(5): Show c.245+4C>T		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	3/28					chr12	TogoVar
EED_chr11_86239753_86283810	86266075	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(291): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(224): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0220 a0001c0001t0004g0231 a0001c0001t0005g0289 a0001c0001t0006g0009 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0003t0001g0016 a0002c0004t0001g0014	294	392	0.7500	0	c.727 others(5): Show c.727-8G>A		EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding	7/11					chr11	TogoVar
EEF1A1_chr6_73510750_73526032	73517940	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	424	0.0024	0	c.126 others(6): Show c.1265-6T>G		EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding	7/7					chr6	TogoVar
EEF1A1_chr6_73510750_73526032	73518694	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0034 a0001c0001t0022g0034	1	424	0.0024	0	c.772 others(5): Show c.772+4A>T		EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding	5/7					chr6	TogoVar
EEF1A1_chr6_73510750_73526032	73519328	CCCA CCCA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00639.hp1 HG00673.hp2 others(50): Show HG00544.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG01106.hp2 HG01123.hp2 HG01346.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18990.hp2 NA18991.hp2 NA18997.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19082.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0015 a0001c0005t0021 a0001c0001t0003 a0001c0001t0015 a0001c0005t0021	a0001c0001t0003g0003 a0001c0001t0003g0036 a0001c0001t0003g0037 others(3): Show a0001c0001t0003g0003 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0015g0013 a0001c0005t0021g0026	53	424	0.1250	-3	c.324 others(14): Show c.324+6_324+8delTGG		EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding	3/7					chr6	TogoVar
EEF1A1_chr6_73510750_73526032	73520993	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	424	0.0024	0	c.-31 others(5): Show c.-31+7G>A		EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding	1/7					chr6	TogoVar
EEF1A2_chr20_63483014_63504083	63488919	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01081.hp1 HG03471.hp2 NA18522.hp1 HG01081.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0031 a0001c0009t0001g0060 a0001c0009t0001g0031 a0001c0009t0001g0060	3	374	0.0080	0	c.126 others(4): Show c.1263C>T	p.Leu others(6): Show p.Leu421Leu	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	7/8	1360/1773	1263/1392	421/463		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63499050	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	374	0.0027	0	c.-72 others(5): Show c.-72+8C>A		EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	1/7					chr20	TogoVar

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