Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ENPP2_chr8_119552086_119643839	119580166	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp2 HG00621.hp1 NA18955.hp2 others(3): Show HG00558.hp2 HG00621.hp1 NA18955.hp2 NA18969.hp2 NA19060.hp2 NA19084.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0001 a0003c0008t0001g0110 a0003c0008t0001g0204 others(1): Show a0003c0008t0001g0001 a0003c0008t0001g0110 a0003c0008t0001g0204 a0003c0008t0001g0206	6	340	0.0177	0	c.173 others(4): Show c.1730A>G	p.Asn others(6): Show p.Asn577Ser	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	19/25	1789/3086	1730/2592	577/863		chr8	TogoVar
ENPP2_chr8_119552086_119643839	119617567	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00621.hp1 NA18955.hp2 others(4): Show HG00558.hp2 HG00621.hp1 NA18955.hp2 NA18969.hp1 NA18988.hp2 NA19060.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0173 a0001c0001t0001g0205 a0003c0008t0001g0001 others(2): Show a0001c0001t0001g0173 a0001c0001t0001g0205 a0003c0008t0001g0001 a0003c0008t0001g0204 a0003c0008t0001g0206	7	340	0.0206	0	c.480 others(5): Show c.480-4T>G		ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	5/24					chr8	TogoVar
ENPP3_chr6_131632302_131752410	131650156	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	278	0.0036	0	c.277 others(5): Show c.277+7G>A		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	3/24					chr6	TogoVar
ENPP3_chr6_131632302_131752410	131724040	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02922.hp1 HG02965.hp1 HG03041.hp1 others(3): Show HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0011 a0004c0004t0001g0026 a0004c0004t0001g0028 others(3): Show a0004c0004t0001g0011 a0004c0004t0001g0026 a0004c0004t0001g0028 a0004c0004t0001g0037 a0004c0004t0001g0173 a0004c0004t0001g0188	6	278	0.0216	0	c.174 others(4): Show c.1747A>G	p.Ser others(6): Show p.Ser583Gly	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	19/25	1830/3165	1747/2628	583/875		chr6	TogoVar
ENPP3_chr6_131632302_131752410	131737432	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0002 a0009c0018t0002	a0009c0018t0002g0025 a0009c0018t0002g0025	1	278	0.0036	0	c.216 others(4): Show c.2167A>G	p.Lys others(6): Show p.Lys723Glu	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	22/25	2250/3165	2167/2628	723/875		chr6	TogoVar
ENPP5_chr6_46154185_46175980	46161757	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0057 a0001c0001t0015g0057	1	444	0.0023	0	c.100 others(6): Show c.1007-4A>G		ENPP5	ENSG00000112796.10	transcript	ENST00000371383.7	protein_coding	4/4					chr6	TogoVar
ENPP7_chr17_79725943_79747219	79737036	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp1 HG02129.hp1 HG02132.hp2 others(10): Show HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02622.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18984.hp1 NA18994.hp2 NA19003.hp2 NA19012.hp1 NA19057.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0002c0012 a0001c0004 a0002c0001 a0002c0012	a0001c0004t0002 a0002c0001t0001 a0002c0012t0002 a0001c0004t0002 a0002c0001t0001 a0002c0012t0002	a0001c0004t0002g0007 a0001c0004t0002g0217 a0001c0004t0002g0219 others(3): Show a0001c0004t0002g0007 a0001c0004t0002g0217 a0001c0004t0002g0219 a0001c0004t0002g0220 a0002c0001t0001g0127 a0002c0012t0002g0007	13	430	0.0302	0	c.102 others(6): Show c.1027-5G>A		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	3/5					chr17	TogoVar
ENPP7_chr17_79725943_79747219	79737917	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0129 a0002c0032t0002g0129	1	430	0.0023	0	c.124 others(4): Show c.1248A>G	p.Glu others(6): Show p.Glu416Glu	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	5/6	1445/2016	1248/1377	416/458		chr17	TogoVar
ENSA_chr1_150617125_150634612	150625815	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	422	0.0024	0	c.184 others(5): Show c.184-7C>T		ENSA	ENSG00000143420.19	transcript	ENST00000369014.10	protein_coding	2/3					chr1	TogoVar
ENTHD1_chr22_39738044_39898760	39835834	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	218	0.0046	0	c.711 others(5): Show c.711+6T>C		ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	4/6					chr22	TogoVar
ENTPD2_chr9_137043107_137059061	137048935	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp2 HG03834.hp2 HG03942.hp1 HG02602.hp2 HG03834.hp2 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0024	3	400	0.0075	0	c.128 others(6): Show c.1284+6C>T		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	8/8					chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137050284	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00408.hp2 HG00558.hp1 others(106): Show HG00099.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02965.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20805.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0005 a0001c0006 others(4): Show a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0020 a0003c0007 a0006c0017	a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 others(4): Show a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0020t0001 a0003c0007t0001 a0006c0017t0001	a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0008 others(52): Show a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0120 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0005t0001g0027 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0005t0001g0161 a0001c0006t0001g0045 a0001c0006t0001g0134 a0001c0006t0001g0135 a0001c0006t0001g0136 a0001c0008t0001g0128 a0001c0008t0001g0141 a0001c0020t0001g0122 a0003c0007t0001g0053 a0003c0007t0001g0127 a0003c0007t0001g0140 a0006c0017t0001g0147	109	400	0.2725	0	c.102 others(4): Show c.1029G>C	p.Val others(6): Show p.Val343Val	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/9	1093/2102	1029/1488	343/495		chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137051127	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02886.hp1 HG02886.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0054 a0010c0019t0001g0054	1	400	0.0025	0	c.549 others(3): Show c.549C>T	p.Tyr others(6): Show p.Tyr183Tyr	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	5/9	613/2102	549/1488	183/495		chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137051127	G G	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG03927.hp1 HG03927.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0067 a0005c0013t0001g0067	1	400	0.0025	0	c.549 others(3): Show c.549C>A	p.Tyr others(4): Show p.Tyr183*	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	5/9	613/2102	549/1488	183/495		chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137051137	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp1 HG02083.hp1 NA18978.hp2 HG02071.hp1 HG02083.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	3	400	0.0075	0	c.547 others(5): Show c.547-8C>G		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	4/8					chr9	TogoVar
ENTPD2_chr9_137043107_137059061	137052352	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(352): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.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 HG01099.hp1 HG01106.hp1 HG01106.hp2 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.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.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.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 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.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 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 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0020 a0002c0004 a0002c0009 a0003c0007 a0004c0010 a0005c0013 a0006c0017 a0007c0015 a0008c0018 a0009c0016 a0011c0014 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0012t0001 a0001c0020t0001 a0002c0004t0001 a0002c0009t0001 a0003c0007t0001 a0004c0010t0001 a0005c0013t0001 a0006c0017t0001 a0007c0015t0001 a0008c0018t0001 a0009c0016t0001 a0011c0014t0001 a0012c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(158): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0002g0014 a0001c0001t0002g0035 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0118 a0001c0001t0004g0090 a0001c0001t0005g0091 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0120 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0003t0001g0007 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0060 a0001c0003t0001g0078 a0001c0003t0001g0083 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0003t0001g0095 a0001c0003t0001g0097 a0001c0003t0001g0102 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0003g0012 a0001c0003t0003g0079 a0001c0005t0001g0027 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0005t0001g0161 a0001c0006t0001g0045 a0001c0006t0001g0134 a0001c0006t0001g0135 a0001c0006t0001g0136 a0001c0008t0001g0128 a0001c0008t0001g0141 a0001c0012t0001g0066 a0001c0020t0001g0122 a0002c0004t0001g0011 a0002c0004t0001g0068 a0002c0009t0001g0043 a0003c0007t0001g0053 a0003c0007t0001g0127 a0003c0007t0001g0140 a0004c0010t0001g0042 a0005c0013t0001g0067 a0006c0017t0001g0147 a0007c0015t0001g0087 a0008c0018t0001g0163 a0009c0016t0001g0089 a0011c0014t0001g0062 a0012c0011t0001g0065	355	400	0.8875	0	c.118 others(5): Show c.118-4G>C		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	1/8					chr9	TogoVar
ENTPD3_chr3_40382184_40433744	40388046	C C	G G	splice_region_variant splice_region_variant	LOW	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0159 a0001c0001t0013g0159	1	374	0.0027	0	c.-12 others(3): Show c.-12C>G		ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	2/11					chr3	TogoVar
ENTPD3_chr3_40382184_40433744	40388095	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02129.hp2 NA18956.hp1 NA18973.hp1 others(6): Show HG02129.hp2 NA18956.hp1 NA18973.hp1 NA18982.hp1 NA18985.hp1 NA19012.hp1 NA19063.hp2 NA19079.hp2 NA19081.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0009 a0003c0003 a0012c0009	a0003c0003t0001 a0012c0009t0001 a0003c0003t0001 a0012c0009t0001	a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0233 others(6): Show a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0233 a0003c0003t0001g0235 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0246 a0003c0003t0001g0247 a0012c0009t0001g0194	9	374	0.0241	0	c.38C others(2): Show c.38C>A	p.Ala others(5): Show p.Ala13Glu	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	2/11	128/2916	38/1590	13/529		chr3	TogoVar
ENTPD3_chr3_40382184_40433744	40397267	CTGAACAG others(3724): Show CTGAACAGTCATGCCATTACACTTGGTTTCCTTGGAGCTCAGTGAAAACA TCATGGCTATGATTACTGAACAGTCATGCCATTACACTTGGTTTCCTTGG AGCTCAGTGAAAACATCATGGCTATGAGTACAGGTTTTAGAGTCCGTTAG ACTCAGGCTTGATCCCAGGTCTGTGATCTTGGGCATTTACTTACTACTGT AAGCCTCGGTTTGCCCATGTGTCGAATGGTATGATATGATATGATATGAT ATGATAACATATGTCTTATACAGGCAATAACACAAAGCACTTTCTGCAGT GCCTAGAATAAGTGCAGGACAAGGCTTATTACTACTACTATTTATTATCA TAGTAATAATGATAATAATAATAAACAAATCTAAGAAAGTTGACCTTATG CTTCTGCTTTCGCTATTGCTTTAGACAGATCACACAATCCTTAAGTGTTG GACCAAGGAGACTGGCCCTTTCAGTTAACATTAATTGCATTCACTGTTAG ATACAGAGTAATTTAACCAGTTTCCTTATTCTATACATTTCTAAACTGAA AGACTGCTTCCTTTCAGTTAATCCACTGTGTCTTCAGATCCACATTTGAG CCATGGTTTTTTCTGACACTGCATTAGACAGAGGATTACTTACTACTTTT TATCCGAACATCACCTTGCCAGCTGAACTGAAATTCATTCCCATCCCCTC TCCCCCAAAAGAATCACACTGAGTTTCACTGTTTAGGCAAAAGAGCTCTG AAAACTGGTTAAAGACCATTTTTCCCACTTTTGAAAATGTCAGTGAATGA TGGTAGGGCTAGATCCGTGTGAGTCGGTAGAGGTGGGCCTATATCAGCAG GTGCCGGAGGGACAGCCATTTCTCCAGTCTCACAGAGCAAAGTCTGGCTG CTGCAGACCCTGGTGAAAGCTGGATCCCAGTTGGAGTTACAAATGAGAAT GGATACTCTTCTCTCTGATCTTGGCCCAGCAGCCCTGAGCTTCAGAAACA CAGGAAAAACATGCACCCTTTTTGAAGGGTTGGAATAAAGATTTGAGGAA AGGAAGGTGACAGTTTTTCTCCTATTCTCTCTCTCCTCTTGTTTTATGGT TCAGCACCAGGCGTGGCAGGGCGGGCTGGAGTGGTGGTGATCAGGTCAGG AGCAGGGGGGAGGAAAGAAAGCAGACCAAGAATATAGAGGCCTGGACCTC TTTAGTTTAGTGCCTGGTTTCCTTCTTGCCTTCAGTTTCAACCTGTACTT TAATCTCCCTGTGAGTCGCTGCCTGTGACAGATTATGAACAATGCCACCC TTGTTCCCCATGAGGGATGTCAGGTCAGGATCCTGATCAACATTCATCAT ACTGAAGGGCTGAGATTAAGAGGCTGTCCAAGTTCACATACCAGTGAACA CAGATGTTCTATTTCAAAATAATGGAGAGGCTATGATTCAGGAGCTGGAG CAACTTTTTAAAAATATGGTCCCATTTCAAACAAAACAAGCATTTGTAAT ATAGATAATAAAAAGTTGGAAACCTCCTAAATGTATAGGATCAGGAAATT GGTTAAATTACTCTGTACCTAAAAGTGAATACAATGAATGTATGAAAATG GTGATATCAATCTGTTTCTACTGTCAGGAAGACATGTTCATGATATACTT TTAAGAAAAGAGCATTGCATGGCCAGATGCGGTAGCTCATCCCTGTAATA CCAGCAGCATTTTGGGAGGCGGAGGTGGGTGAATCACTTGAGCCCAGGAG TTCGAGACCAGGCTGGGAAACATGGCGAAACCCTGTCTTTACAAAAAATA TAAAAATTAGCCAGGTGTGATGGTGCACACCTGTAATCCCAGCTACTCGA AAAGCTGGGGCTGAGAATCGATTGAGCCTGAGAAGTTGAGGCTGCAGTGA GTCGTTGGTGGCACCACTGCATATATACAATGATATATGTATATATCCAG ATACATATATACATATATTGTTAGAAAAGATACAACAAGGGCTAACGCAA TAGTTGGATTTGAGGGATGCTTTGTTTTCTTTTCTGTTTTTCTTGTTTTG TGATTTTATTTGTTTCTTTTGCTTGACTGGCTTTTCTATATATGCTAATA GCCTGTATTTATGAGTAGCCATTAAGCATTAGGCATATAGCCTTCTATTT ACTTCTGCAAGTAAGTCCTCTAAAGATGAGGGAACCCAGAAAGGTTAGGC AACTTACCCAGTCCAGCATCATAAAATCGAGAATCCATCTGAGTCAGCTT GCCTCCAGACCCAACTTCATCATCTTCTGTGGGACAGGCTAGGTTAACCC AAAGGTGGTGCGGTGGGAGACTTCAGGCCACCCTGAAGGCCTCTGGATGC CCTAGGATGACTCTGAGCACAAACAGATACGGGGCTTAGGTATGCATTGC TAATTCCAAATTCTATAGGCTACTAATACATGCTCTTTCCTGGTCAGGTT TGGTCCAGAGCCTGGGCTGGGCCAAACCTGCAGGTGAAACTTTCTAGTGC CTGCTCAAGTTGGACAAATTGGTCCAGGACTCTCAGCCTACTCTCCTGCA CACAGCCAGCCCCAGCACTGCCCAGCAACACCTGCCTGTTCATTTGTTGA CATACACATTGCCAAAGTGTGATCAATATGTCAATATTATTTTTTTATTT TGCTTTTTTTCTCCTTAATTATGAATACTTTAATTCTGAGCACTGATACA GGTATTAACATGCCTCAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCGGGAGTTTGAGA CCAGCCTGCCCAACATGGTGAAACCTTATCTCTACTAAAAACACAAAAAT TAGCCAGGGATGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAG ATCGTGCCACTGCAATCCAGCCTGGGTGATAAGAGTGAACTGCATCTCAA AAAAAAAAAAAAAAAGAAAAAAGGAAATGCCTCTACCCTGTGAAAAACTT CTTATAACTTCTTCCTATGCTTTTATTTTGGTTGTTTATTTTTAGACTGA TAAGCCTAGAAGTTTGGAAATAGAGGGCATCCAGGTGACTATTCATTTTC CGTCTGAGACGAAGATGGCTTTTGTACCTCTCCCCAGAGGTCTGAATGAG GAAGAATCAGGCAACTCAATTGTATGCAAGATCCATCATGAAGTACAATT CTCAACCTTGGCTGAGTGTTGGACTCACCTGGGACTTTTAAAACCTGTTG ATGCCTGAGTCCACTCTCAGAGATTCTGATTTAATTGGTATGGGGTGTAG ACTTGGCATTGGGGGATTTTTTAAGCTCTCCAGGTGATTCTAATGCATTG CAAAGTGATAATTATTTCCTAGAACCTGCCCTACCTTTCCTCATTCCCTT CCCTCACAATCCAAGGAGACAAAATTGGTTTGGAGAAAATAATTTTTCTT ATTGATTAGCCCTTCCCTAAGCGAAGCAGTGTGGATTAAGGTACTCAGGG TTCTCAGTGGCCCACTGAGAAAGCAGTCCTCAGAGGAGTCCCGCCCATTC TGACTCTCCCTTTCCCTTTTTATTCAGTATGGTATTGTGCTGGATGCCGG GTCTTCAAGAACCACAGTCTACGTGTATCAATGGCCAGCAGAAAAAGAGA ATAATACCGGAGTGGTCAGTCAAACCTTCAAA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0230 a0007c0015t0001g0230	1	374	0.0027	-3731	c.169 others(12): Show c.169-3624_275del	p.Tyr others(4): Show p.Tyr57fs	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	4/11		169/1590	57/529	INFO_REALIGN_3_PRIME	chr3	TogoVar
ENTPD4_chr8_23424162_23462647	23434481	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG03669.hp2 HG00741.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	2	412	0.0049	0	c.146 others(6): Show c.1461-3T>C		ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding	11/12					chr8	TogoVar
ENTPD4_chr8_23424162_23462647	23439742	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0116 a0001c0001t0038g0117 a0001c0001t0001g0116 a0001c0001t0038g0117	2	412	0.0049	0	c.104 others(6): Show c.1049+7C>T		ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding	9/12					chr8	TogoVar
ENTPD4_chr8_23424162_23462647	23447890	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	412	0.0024	0	c.207 others(5): Show c.207-5A>T		ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding	3/12					chr8	TogoVar
ENTPD4_chr8_23424162_23462647	23449885	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0161 a0001c0001t0012g0161	1	412	0.0024	0	c.8+8 others(3): Show c.8+8A>G		ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding	2/12					chr8	TogoVar
ENTPD5_chr14_73958230_74024288	73975928	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02622.hp2 HG02647.hp1 others(2): Show HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0012g0138 others(2): Show a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0012g0138 a0001c0001t0012g0360 a0001c0001t0012g0361	5	380	0.0132	0	c.722 others(5): Show c.722+8C>T		ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	10/15					chr14	TogoVar
ENTPD5_chr14_73958230_74024288	73976018	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	380	0.0026	0	c.643 others(5): Show c.643-3C>T		ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	9/15					chr14	TogoVar
ENTPD5_chr14_73958230_74024288	73976022	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18981.hp2 NA18994.hp2 NA18981.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0027 a0001c0002t0002 a0001c0002t0027	a0001c0002t0002g0327 a0001c0002t0027g0317 a0001c0002t0002g0327 a0001c0002t0027g0317	2	380	0.0053	0	c.643 others(5): Show c.643-7T>C		ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	9/15					chr14	TogoVar
ENTPD5_chr14_73958230_74024288	73977380	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01243.hp1 HG01496.hp2 others(9): Show HG01109.hp1 HG01243.hp1 HG01496.hp2 HG02145.hp1 HG02630.hp2 HG02723.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03579.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0054 a0001c0002t0008g0055 a0001c0002t0008g0056 others(9): Show a0001c0002t0008g0054 a0001c0002t0008g0055 a0001c0002t0008g0056 a0001c0002t0008g0271 a0001c0002t0008g0339 a0001c0002t0008g0340 a0001c0002t0008g0341 a0001c0002t0008g0342 a0001c0002t0008g0343 a0001c0002t0008g0344 a0001c0002t0008g0345 a0001c0002t0008g0362	12	380	0.0316	0	c.442 others(5): Show c.442-6C>A		ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	6/15					chr14	TogoVar
ENTPD8_chr9_137429364_137446357	137436005	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02145.hp1 HG02922.hp2 others(2): Show HG01891.hp1 HG02145.hp1 HG02922.hp2 HG02970.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0019 a0001c0001 a0001c0013 a0001c0019	a0001c0001t0002 a0001c0013t0002 a0001c0019t0002 a0001c0001t0002 a0001c0013t0002 a0001c0019t0002	a0001c0001t0002g0031 a0001c0001t0002g0077 a0001c0013t0002g0071 others(1): Show a0001c0001t0002g0031 a0001c0001t0002g0077 a0001c0013t0002g0071 a0001c0019t0002g0078	5	392	0.0128	0	c.105 others(6): Show c.1050+8C>T		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	7/9					chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137437032	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0131 a0001c0001t0007g0131	1	392	0.0026	0	c.396 others(5): Show c.396-4C>T		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	4/9					chr9	TogoVar
ENTR1_chr9_136396922_136415614	136402890	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0222 a0001c0001t0009g0222	1	412	0.0024	0	c.120 others(6): Show c.1209-3C>T		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9					chr9	TogoVar
ENTR1_chr9_136396922_136415614	136404201	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00544.hp1 HG00597.hp1 others(35): Show HG00423.hp1 HG00544.hp1 HG00597.hp1 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03831.hp2 HG03834.hp1 NA18942.hp1 NA18954.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18988.hp1 NA19006.hp2 NA19010.hp1 NA19054.hp2 NA19067.hp1 NA19070.hp2 NA19085.hp2 NA19090.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0004 a0003c0017 a0006c0012 others(1): Show a0001c0004 a0003c0017 a0006c0012 a0007c0011	a0001c0004t0002 a0001c0004t0004 a0003c0017t0004 others(2): Show a0001c0004t0002 a0001c0004t0004 a0003c0017t0004 a0006c0012t0004 a0007c0011t0004	a0001c0004t0002g0022 a0001c0004t0002g0034 a0001c0004t0002g0198 others(13): Show a0001c0004t0002g0022 a0001c0004t0002g0034 a0001c0004t0002g0198 a0001c0004t0002g0203 a0001c0004t0002g0204 a0001c0004t0004g0003 a0001c0004t0004g0028 a0001c0004t0004g0072 a0001c0004t0004g0073 a0001c0004t0004g0074 a0001c0004t0004g0075 a0001c0004t0004g0076 a0001c0004t0004g0077 a0003c0017t0004g0071 a0006c0012t0004g0027 a0007c0011t0004g0026	38	412	0.0922	0	c.106 others(6): Show c.1069-7C>T		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	8/9					chr9	TogoVar
ENTR1_chr9_136396922_136415614	136404628	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0097	1	412	0.0024	0	c.106 others(6): Show c.1068+3A>G		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	8/9					chr9	TogoVar
ENTR1_chr9_136396922_136415614	136407563	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(138): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0026 a0002c0003 a0003c0005 a0003c0008	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(12): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0020 a0001c0004t0002 a0001c0004t0004 a0001c0026t0001 a0002c0003t0002 a0003c0005t0001 a0003c0005t0016 a0003c0008t0003	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0009g0050 a0001c0001t0009g0222 a0001c0001t0012g0065 a0001c0002t0003g0025 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0064 a0001c0002t0007g0051 a0001c0002t0011g0055 a0001c0002t0014g0063 a0001c0002t0020g0098 a0001c0004t0002g0204 a0001c0004t0004g0072 a0001c0026t0001g0127 a0002c0003t0002g0214 a0003c0005t0001g0083 a0003c0005t0001g0089 a0003c0005t0016g0070 a0003c0008t0003g0054	141	412	0.3422	-1	c.403 others(6): Show c.403-3delT		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	4/9					chr9	TogoVar
ENTR1_chr9_136396922_136415614	136407563	TAA TAA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00423.hp1 HG00544.hp1 others(101): Show HG00099.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19085.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0007 a0008 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0003c0008 a0003c0017 a0006c0012 a0007c0011 a0008c0013 a0009c0028 a0009c0029 a0011c0021 a0012c0022	a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0022 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0004t0002 a0001c0004t0004 a0003c0008t0003 a0003c0017t0004 a0006c0012t0004 a0007c0011t0004 a0008c0013t0002 a0009c0028t0021 a0009c0029t0001 a0011c0021t0003 a0012c0022t0003	a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0001t0001g0143 others(54): Show a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0194 a0001c0001t0001g0220 a0001c0001t0005g0099 a0001c0001t0022g0221 a0001c0002t0003g0004 a0001c0002t0003g0014 a0001c0002t0003g0024 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0005g0017 a0001c0002t0005g0018 a0001c0002t0005g0205 a0001c0002t0007g0023 a0001c0002t0008g0013 a0001c0002t0010g0223 a0001c0002t0010g0224 a0001c0002t0013g0061 a0001c0002t0015g0068 a0001c0004t0002g0022 a0001c0004t0002g0034 a0001c0004t0002g0198 a0001c0004t0002g0203 a0001c0004t0004g0003 a0001c0004t0004g0028 a0001c0004t0004g0073 a0001c0004t0004g0074 a0001c0004t0004g0076 a0001c0004t0004g0077 a0003c0008t0003g0052 a0003c0008t0003g0053 a0003c0017t0004g0071 a0006c0012t0004g0027 a0007c0011t0004g0026 a0008c0013t0002g0131 a0008c0013t0002g0199 a0009c0028t0021g0135 a0009c0029t0001g0200 a0011c0021t0003g0060 a0012c0022t0003g0062	104	412	0.2524	-2	c.403 others(13): Show c.403-4_403-3delTT		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	4/9					chr9	TogoVar
ENTR1_chr9_136396922_136415614	136407563	TAAA TAAA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(71): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp2 HG03239.hp2 HG03486.hp2 HG03579.hp2 HG04184.hp2 HG04199.hp1 NA18941.hp2 NA18943.hp2 NA18952.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp1 NA18982.hp2 NA18990.hp2 NA19006.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19068.hp2 NA19081.hp1 NA19089.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0014 a0002c0003 a0002c0020 a0003c0005 a0003c0007 a0003c0015 a0003c0016 a0004c0009 a0004c0023 a0005c0010	a0001c0001t0001 a0001c0002t0005 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0002t0005 a0001c0004t0001 a0001c0004t0004 a0001c0006t0002 a0001c0014t0002 a0002c0003t0002 a0002c0020t0002 a0003c0005t0001 a0003c0007t0002 a0003c0015t0002 a0003c0016t0002 a0004c0009t0006 a0004c0023t0006 a0005c0010t0002	a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0133 others(33): Show a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0218 a0001c0002t0005g0096 a0001c0004t0001g0097 a0001c0004t0004g0075 a0001c0006t0002g0016 a0001c0006t0002g0095 a0001c0006t0002g0100 a0001c0014t0002g0031 a0002c0003t0002g0002 a0002c0003t0002g0012 a0002c0003t0002g0106 a0002c0003t0002g0132 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0216 a0002c0003t0002g0219 a0002c0020t0002g0217 a0003c0005t0001g0084 a0003c0007t0002g0029 a0003c0007t0002g0087 a0003c0015t0002g0086 a0003c0016t0002g0085 a0004c0009t0006g0015 a0004c0023t0006g0069 a0005c0010t0002g0209 a0005c0010t0002g0210	74	412	0.1796	-3	c.403 others(14): Show c.403-5_403-3delTTT		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	4/9					chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69325730	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01891.hp1 HG01243.hp2 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0317 a0001c0003t0001g0318 a0001c0003t0001g0317 a0001c0003t0001g0318	2	342	0.0059	0	c.414 others(5): Show c.414+7A>G		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10					chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69375729	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(103): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02135.hp2 HG02145.hp2 HG02273.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18939.hp2 NA18942.hp2 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18985.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(95): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0004g0240 a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0269 a0001c0001t0004g0271 a0001c0001t0004g0274 a0001c0001t0005g0268 a0001c0001t0008g0101	106	342	0.3099	0	c.583 others(5): Show c.583-7C>T		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	3/10					chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69385763	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp1 HG02155.hp2 HG02897.hp1 others(7): Show HG02040.hp1 HG02155.hp2 HG02897.hp1 HG03098.hp1 HG03516.hp1 HG03927.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18985.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0006 a0003c0008 others(1): Show a0001c0001 a0003c0006 a0003c0008 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0003c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0003c0006t0001 a0003c0008t0001 a0006c0005t0001	a0001c0001t0001g0227 a0001c0001t0001g0309 a0001c0001t0003g0247 others(7): Show a0001c0001t0001g0227 a0001c0001t0001g0309 a0001c0001t0003g0247 a0001c0001t0003g0253 a0001c0001t0003g0266 a0001c0001t0003g0275 a0001c0001t0003g0280 a0003c0006t0001g0210 a0003c0008t0001g0278 a0006c0005t0001g0222	10	342	0.0292	-1	c.116 others(7): Show c.1163-8delT		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	8/10				INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69385763	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00735.hp2 HG01106.hp1 others(30): Show HG00280.hp2 HG00735.hp2 HG01106.hp1 HG01175.hp1 HG01496.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp2 HG02071.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp2 NA18906.hp1 NA18906.hp2 NA18978.hp2 NA18990.hp2 NA19007.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0004 a0001c0001 a0002c0002 a0007c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0007c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0104 others(25): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0230 a0001c0001t0002g0008 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0144 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0288 a0001c0001t0004g0271 a0001c0001t0004g0274 a0002c0002t0001g0003 a0002c0002t0001g0215 a0002c0002t0001g0223 a0007c0004t0001g0219	33	342	0.0965	-2	c.116 others(15): Show c.1163-9_1163-8delTT		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	8/10				INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69385763	CTTT CTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(87): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp2 HG02145.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02886.hp1 HG02976.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19067.hp1 NA19072.hp2 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0002g0002 others(80): Show a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0234 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0312 a0001c0001t0004g0240 a0001c0001t0004g0246 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0269 a0001c0001t0005g0268 a0002c0002t0001g0224	90	342	0.2632	-3	c.116 others(17): Show c.1163-10_1163-8delTTT		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	8/10				INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69385763	CTTTT CTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp2 HG01169.hp2 HG01943.hp2 others(5): Show HG01074.hp2 HG01169.hp2 HG01943.hp2 HG01975.hp2 NA18939.hp2 NA18942.hp2 NA18964.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0097 a0001c0001t0002g0168 a0001c0001t0002g0179 others(5): Show a0001c0001t0002g0097 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0194 a0001c0001t0002g0290 a0001c0001t0002g0308 a0001c0001t0004g0248 a0001c0001t0008g0101	8	342	0.0234	-4	c.116 others(18): Show c.1163-11_1163-8delTTTT		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	8/10				INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69385785	TTTA TTTA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01943.hp1 HG02451.hp2 others(8): Show HG01167.hp1 HG01943.hp1 HG02451.hp2 HG02896.hp2 HG03491.hp1 HG04199.hp2 NA18962.hp2 NA18987.hp2 NA19010.hp2 NA19054.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0079 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0153 a0001c0001t0001g0214 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0300	11	342	0.0322	-3	c.116 others(16): Show c.1163-9_1163-7delTTA		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	8/10					chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69385786	TTA TTA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00423.hp2 HG00642.hp1 others(103): Show HG00099.hp1 HG00423.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18944.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18980.hp2 NA18981.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0007 others(1): Show a0001c0001 a0001c0003 a0004c0007 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0004c0007t0001 a0005c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(97): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0026 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0244 a0001c0001t0003g0254 a0001c0001t0003g0258 a0001c0001t0007g0181 a0001c0003t0001g0318 a0004c0007t0001g0028 a0005c0009t0001g0110	106	342	0.3099	-2	c.116 others(15): Show c.1163-8_1163-7delTA		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	8/10					chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69385787	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp1 HG01516.hp1 HG01891.hp1 others(11): Show HG01515.hp1 HG01516.hp1 HG01891.hp1 HG02132.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02818.hp2 HG03098.hp2 HG03209.hp1 HG03490.hp1 NA18949.hp1 NA19081.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0047 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0167 a0001c0001t0001g0213 a0001c0001t0001g0294 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0003t0001g0317	14	342	0.0409	-1	c.116 others(7): Show c.1163-5delA		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	8/10				INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69385788	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0049	1	342	0.0029	0	c.116 others(6): Show c.1163-7A>T		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	8/10					chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29124679	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG02109.hp2 HG02258.hp1 others(16): Show HG01167.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02630.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0003c0006 others(5): Show a0001c0001 a0001c0002 a0003c0006 a0003c0007 a0003c0014 a0003c0023 a0003c0034 a0008c0025	a0001c0001t0002 a0001c0002t0002 a0003c0006t0002 others(10): Show a0001c0001t0002 a0001c0002t0002 a0003c0006t0002 a0003c0006t0039 a0003c0006t0046 a0003c0007t0002 a0003c0007t0042 a0003c0007t0050 a0003c0014t0002 a0003c0014t0051 a0003c0023t0022 a0003c0034t0002 a0008c0025t0002	a0001c0001t0002g0099 a0001c0002t0002g0040 a0003c0006t0002g0065 others(16): Show a0001c0001t0002g0099 a0001c0002t0002g0040 a0003c0006t0002g0065 a0003c0006t0002g0081 a0003c0006t0002g0107 a0003c0006t0039g0105 a0003c0006t0046g0037 a0003c0007t0002g0074 a0003c0007t0002g0087 a0003c0007t0002g0094 a0003c0007t0002g0121 a0003c0007t0042g0038 a0003c0007t0050g0125 a0003c0014t0002g0067 a0003c0014t0002g0103 a0003c0014t0051g0124 a0003c0023t0022g0030 a0003c0034t0002g0046 a0008c0025t0002g0090	19	125	0.1520	0	c.130 others(6): Show c.1303+8G>A		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	10/10					chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29137197	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp2 NA19043.hp1 HG06807.hp2 NA19043.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0007 a0002c0004 a0003c0007	a0002c0004t0003 a0003c0007t0050 a0002c0004t0003 a0003c0007t0050	a0002c0004t0003g0111 a0003c0007t0050g0125 a0002c0004t0003g0111 a0003c0007t0050g0125	2	125	0.0160	0	c.631 others(5): Show c.631-3C>A		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	5/10					chr15	TogoVar
EOGT_chr3_68970225_69018684	68982812	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00639.hp1 HG01069.hp2 HG01071.hp1 others(10): Show HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01192.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp2	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0004 a0002c0005t0006 a0002c0006t0004 others(1): Show a0002c0005t0004 a0002c0005t0006 a0002c0006t0004 a0002c0006t0010	a0002c0005t0004g0017 a0002c0005t0004g0202 a0002c0005t0004g0209 others(7): Show a0002c0005t0004g0017 a0002c0005t0004g0202 a0002c0005t0004g0209 a0002c0005t0004g0210 a0002c0005t0004g0220 a0002c0005t0006g0248 a0002c0006t0004g0239 a0002c0006t0010g0022 a0002c0006t0010g0023 a0002c0006t0010g0321	13	444	0.0293	0	c.121 others(4): Show c.1213A>G	p.Arg others(6): Show p.Arg405Gly	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	15/18	1679/4443	1213/1584	405/527		chr3	TogoVar
EOGT_chr3_68970225_69018684	68987445	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0287 a0001c0016t0005g0287	1	444	0.0023	0	c.115 others(4): Show c.1152G>A	p.Glu others(6): Show p.Glu384Glu	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	14/18	1618/4443	1152/1584	384/527		chr3	TogoVar
EOGT_chr3_68970225_69018684	69009632	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(147): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19054.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0001c0016 a0002c0006 a0004c0013	a0001c0001t0029 a0001c0001t0042 a0001c0001t0057 others(36): Show a0001c0001t0029 a0001c0001t0042 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0031 a0001c0002t0037 a0001c0002t0046 a0001c0002t0048 a0001c0002t0049 a0001c0002t0051 a0001c0002t0053 a0001c0002t0056 a0001c0002t0059 a0001c0009t0004 a0001c0009t0006 a0001c0009t0054 a0001c0009t0061 a0001c0012t0036 a0001c0016t0005 a0002c0006t0010 a0004c0013t0001	a0001c0001t0029g0044 a0001c0001t0042g0050 a0001c0001t0057g0331 others(125): Show a0001c0001t0029g0044 a0001c0001t0042g0050 a0001c0001t0057g0331 a0001c0002t0001g0001 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0288 a0001c0002t0001g0290 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0332 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0369 a0001c0002t0001g0370 a0001c0002t0001g0371 a0001c0002t0001g0375 a0001c0002t0001g0377 a0001c0002t0001g0379 a0001c0002t0001g0380 a0001c0002t0001g0382 a0001c0002t0001g0383 a0001c0002t0001g0384 a0001c0002t0001g0385 a0001c0002t0001g0386 a0001c0002t0002g0280 a0001c0002t0002g0350 a0001c0002t0002g0357 a0001c0002t0003g0027 a0001c0002t0003g0296 a0001c0002t0003g0333 a0001c0002t0003g0337 a0001c0002t0003g0342 a0001c0002t0003g0355 a0001c0002t0003g0376 a0001c0002t0004g0029 a0001c0002t0004g0284 a0001c0002t0004g0297 a0001c0002t0004g0307 a0001c0002t0004g0324 a0001c0002t0004g0362 a0001c0002t0005g0311 a0001c0002t0005g0322 a0001c0002t0006g0021 a0001c0002t0006g0285 a0001c0002t0006g0300 a0001c0002t0006g0306 a0001c0002t0008g0036 a0001c0002t0008g0301 a0001c0002t0008g0317 a0001c0002t0008g0318 a0001c0002t0008g0319 a0001c0002t0008g0320 a0001c0002t0008g0323 a0001c0002t0008g0367 a0001c0002t0009g0283 a0001c0002t0009g0286 a0001c0002t0010g0358 a0001c0002t0011g0030 a0001c0002t0014g0020 a0001c0002t0014g0294 a0001c0002t0015g0047 a0001c0002t0018g0292 a0001c0002t0018g0344 a0001c0002t0018g0365 a0001c0002t0018g0366 a0001c0002t0019g0325 a0001c0002t0021g0293 a0001c0002t0022g0328 a0001c0002t0022g0343 a0001c0002t0022g0348 a0001c0002t0022g0359 a0001c0002t0024g0338 a0001c0002t0025g0345 a0001c0002t0025g0372 a0001c0002t0026g0303 a0001c0002t0026g0310 a0001c0002t0031g0378 a0001c0002t0037g0031 a0001c0002t0046g0289 a0001c0002t0048g0049 a0001c0002t0049g0048 a0001c0002t0051g0349 a0001c0002t0053g0295 a0001c0002t0056g0381 a0001c0002t0059g0291 a0001c0009t0004g0368 a0001c0009t0004g0374 a0001c0009t0006g0373 a0001c0009t0054g0314 a0001c0009t0061g0356 a0001c0012t0036g0024 a0001c0016t0005g0287 a0002c0006t0010g0022 a0002c0006t0010g0023 a0002c0006t0010g0321 a0004c0013t0001g0334	150	444	0.3378	0	c.210 others(5): Show c.210+5G>A		EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	4/17					chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)