Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	distance	status	chr	external
EMX2_chr10_117537746_117554546	117542345	AGAGGAGG others(11): Show AGAGGAGGAGGAAGAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0038 a0002c0004t0038	a0002c0004t0038g0042 a0002c0004t0038g0042	1	402	0.0025	-18	c.-92 others(27): Show c.-922_-905delGAGGAGGAGGAAGAAGAG		EMX2	ENSG00000170370.12	transcript	ENST00000553456.5	protein_coding					400		chr10	TogoVar
EN1_chr2_118837171_118852648	118845628	CACTGTTT others(11): Show CACTGTTTTTCAGCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0033 a0006c0007t0001g0033	1	442	0.0023	-18	c.862 others(33): Show c.862+660_862+677delCTGGAGCTGAAAAACAGT		EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding	1/1						chr2	TogoVar
ENAH_chr1_225481829_225658123	225519331	ATCCAGGC others(11): Show ATCCAGGCGTTCCTGCCGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00738.hp1 HG01167.hp1 others(17): Show HG00099.hp1 HG00738.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG02055.hp2 HG02132.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02886.hp1 HG03516.hp1 HG03710.hp1 HG04115.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18956.hp1 NA19054.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0008 a0006c0009 a0002c0002 a0002c0008 a0006c0009	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0017 a0002c0002t0022 a0002c0002t0028 a0002c0002t0056 a0002c0008t0108 a0002c0008t0109 a0006c0009t0061	a0002c0002t0001g0076 a0002c0002t0001g0114 a0002c0002t0001g0115 others(17): Show a0002c0002t0001g0076 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0002g0191 a0002c0002t0002g0198 a0002c0002t0003g0273 a0002c0002t0004g0256 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0008g0276 a0002c0002t0017g0291 a0002c0002t0022g0078 a0002c0002t0028g0066 a0002c0002t0056g0242 a0002c0008t0108g0020 a0002c0008t0109g0024 a0006c0009t0061g0116	20	308	0.0649	-18	c.651 others(25): Show c.651_668delGCGGCAGGAACGCCTGGA	p.Glu others(13): Show p.Glu217_Leu222del	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	5/14	1101/13092	651/1713	217/570			chr1	TogoVar
ENAH_chr1_225481829_225658123	225586488	TCATGAGA others(11): Show TCATGAGACCAGCGTGATC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0088 a0001c0001t0099g0088	1	308	0.0033	-18	c.6-1 others(33): Show c.6-19092_6-19075delGATCACGCTGGTCTCATG		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13						chr1	TogoVar
ENDOU_chr12_47704734_47730490	47706893	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02622.hp1 others(10): Show HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0028 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0118 a0001c0001t0002g0124	13	422	0.0308	-18	c.38 others(29): Show c.3891_*3908delCACACACACACACACACA		ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding					2840		chr12	TogoVar
ENDOU_chr12_47704734_47730490	47728276	CACACACA others(11): Show CACACACACAAAAAGAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	422	0.0024	-18	c.-28 others(29): Show c.-2881_-2864delCTCTCTTTTTGTGTGTGT		ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding					2787		chr12	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00639.hp2 others(42): Show HG00099.hp2 HG00609.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG02071.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02523.hp2 HG02698.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03654.hp1 HG03831.hp2 HG03834.hp1 NA18941.hp1 NA18946.hp1 NA18949.hp2 NA18966.hp1 NA18967.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp2 NA19057.hp2 NA19063.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19091.hp1 NA19091.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0022 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222	45	384	0.1172	-18	c.594 others(35): Show c.594+1781_594+1798delTATATATATATATATATA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5						chr10	TogoVar
ENO2_chr12_6909580_6928697	6928065	CCGGGCGG others(11): Show CCGGGCGGCGCGGCGGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	376	0.0027	-18	c.52 others(29): Show c.5266_*5283delCGGGCGGCGCGGCGGGGG		ENO2	ENSG00000111674.9	transcript	ENST00000229277.6	protein_coding					4369		chr12	TogoVar
ENOSF1_chr18_665318_717630	666945	TGATGGTG others(11): Show TGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02970.hp1 HG01361.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0245 a0001c0001t0001g0252	2	418	0.0048	-18	c.73 others(29): Show c.7342_*7359delTCCATCTCCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3372		chr18	TogoVar
ENOSF1_chr18_665318_717630	667005	TGATGGTG others(11): Show TGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01257.hp2 HG01258.hp1 others(7): Show HG00280.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp1 HG02486.hp1 HG04199.hp2 HG04228.hp2 NA18977.hp1 NA19005.hp1 NA19005.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0018 others(2): Show a0001c0001 a0001c0003 a0001c0018 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0003t0001 a0001c0003t0026 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0026 a0001c0018t0001 a0002c0002t0011 a0004c0008t0001	a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0342 others(7): Show a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0342 a0001c0003t0001g0269 a0001c0003t0026g0268 a0001c0018t0001g0344 a0002c0002t0011g0058 a0002c0002t0011g0104 a0004c0008t0001g0367 a0004c0008t0001g0368	10	418	0.0239	-18	c.72 others(29): Show c.7282_*7299delTCCATCTCCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3312		chr18	TogoVar
ENOSF1_chr18_665318_717630	667083	TGATGGTG others(11): Show TGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02300.hp2 HG02293.hp1 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0187 a0002c0002t0002g0231 a0001c0001t0002g0187 a0002c0002t0002g0231	2	418	0.0048	-18	c.72 others(29): Show c.7204_*7221delTCCATCTCCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3234		chr18	TogoVar
ENOSF1_chr18_665318_717630	667173	TGATGGTG others(11): Show TGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18969.hp2 NA18948.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0244 a0001c0001t0008g0007 a0001c0001t0008g0244	2	418	0.0048	-18	c.71 others(29): Show c.7114_*7131delTCCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3144		chr18	TogoVar
ENOSF1_chr18_665318_717630	667221	TGATGGTG others(11): Show TGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	418	0.0024	-18	c.70 others(29): Show c.7066_*7083delTCCATCTCCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3096		chr18	TogoVar
ENOSF1_chr18_665318_717630	667328	TGATGGAG others(11): Show TGATGGAGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18968.hp1 NA18961.hp2 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0262 a0001c0003t0001g0301 a0001c0003t0001g0262 a0001c0003t0001g0301	2	418	0.0048	-18	c.69 others(29): Show c.6959_*6976delTCCATCACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2989		chr18	TogoVar
ENOSF1_chr18_665318_717630	667481	TGATGGTG others(11): Show TGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG00642.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0180 a0001c0001t0001g0055 a0001c0001t0001g0180	2	418	0.0048	-18	c.68 others(29): Show c.6806_*6823delTCCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2836		chr18	TogoVar
ENOSF1_chr18_665318_717630	667535	TGATGGTG others(11): Show TGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG03834.hp1 NA18974.hp1 HG02683.hp1 HG03834.hp1 NA18974.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0011 a0001c0003 a0003c0011	a0001c0003t0030 a0003c0011t0001 a0001c0003t0030 a0003c0011t0001	a0001c0003t0030g0294 a0003c0011t0001g0401 a0003c0011t0001g0402 a0001c0003t0030g0294 a0003c0011t0001g0401 a0003c0011t0001g0402	3	418	0.0072	-18	c.67 others(29): Show c.6752_*6769delTCCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2782		chr18	TogoVar
ENOSF1_chr18_665318_717630	712349	GCCGCGCG others(11): Show GCCGCGCGTACCATGGCGT	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	418	0.0024	-18	c.84+ others(31): Show c.84+137_84+154delACGCCATGGTACGCGCGG		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15						chr18	TogoVar
ENOSF1_chr18_665318_717630	712356	GTACCATG others(11): Show GTACCATGGCGTCCGCGCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01081.hp1 others(22): Show HG00639.hp1 HG01069.hp2 HG01081.hp1 HG01109.hp2 HG01192.hp2 HG01346.hp2 HG01884.hp2 HG01981.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG03209.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA19007.hp1 NA19060.hp2 NA19074.hp2 NA19076.hp2 NA19090.hp2 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0039 a0001c0003t0001 a0001c0003t0007 a0001c0006t0004 a0002c0002t0011 a0009c0016t0028	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0304 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0010g0317 a0001c0001t0010g0318 a0001c0001t0014g0300 a0001c0001t0039g0312 a0001c0003t0001g0301 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0316 a0001c0003t0007g0306 a0001c0003t0007g0311 a0001c0006t0004g0298 a0002c0002t0011g0299 a0009c0016t0028g0305	25	418	0.0598	-18	c.84+ others(31): Show c.84+130_84+147delAGCGCGGACGCCATGGTA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15						chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247828	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG03710.hp1 HG01074.hp2 HG01243.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0005 a0001c0002t0001 a0001c0009t0001 a0001c0001t0005 a0001c0002t0001 a0001c0009t0001	a0001c0001t0005g0168 a0001c0002t0001g0068 a0001c0009t0001g0133 a0001c0001t0005g0168 a0001c0002t0001g0068 a0001c0009t0001g0133	3	188	0.0160	-18	c.161 others(39): Show c.1612-11108_1612-11091delATATATATATATATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43284771	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00621.hp1 others(45): Show HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG01074.hp2 HG01109.hp2 HG01257.hp2 HG01258.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03831.hp2 NA18944.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp1 NA18985.hp1 NA18999.hp1 NA19004.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0026 a0001c0001t0028 a0001c0001t0042 a0001c0002t0001 a0001c0002t0006 a0001c0002t0027 a0001c0002t0029	a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 others(45): Show a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0050 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0021 a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0006g0141 a0001c0001t0007g0134 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0162 a0001c0001t0007g0180 a0001c0001t0007g0183 a0001c0001t0009g0019 a0001c0001t0009g0039 a0001c0001t0010g0027 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0017g0054 a0001c0001t0026g0092 a0001c0001t0028g0024 a0001c0001t0042g0188 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0128 a0001c0002t0006g0143 a0001c0002t0006g0151 a0001c0002t0006g0153 a0001c0002t0006g0158 a0001c0002t0006g0174 a0001c0002t0006g0181 a0001c0002t0027g0121 a0001c0002t0029g0002	48	188	0.2553	-18	c.144 others(39): Show c.1446+13557_1446+13574delACACACACACACACACAC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	12/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43460813	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01257.hp1 HG01257.hp2 others(29): Show HG00609.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01978.hp2 HG01981.hp1 HG02083.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02809.hp1 HG02897.hp2 HG03139.hp2 HG03710.hp2 HG03942.hp1 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18984.hp2 NA18985.hp1 NA18999.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0033 a0001c0001t0042 a0001c0002t0001 a0001c0002t0006 a0001c0002t0029 a0001c0005t0003	a0001c0001t0001g0080 a0001c0001t0002g0031 a0001c0001t0002g0040 others(29): Show a0001c0001t0001g0080 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0063 a0001c0001t0003g0023 a0001c0001t0003g0055 a0001c0001t0003g0067 a0001c0001t0004g0044 a0001c0001t0004g0102 a0001c0001t0005g0135 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0157 a0001c0001t0008g0025 a0001c0001t0010g0027 a0001c0001t0015g0004 a0001c0001t0017g0075 a0001c0001t0018g0103 a0001c0001t0028g0024 a0001c0001t0033g0156 a0001c0001t0042g0188 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0104 a0001c0002t0006g0143 a0001c0002t0029g0002 a0001c0005t0003g0052	32	188	0.1702	-18	c.-75 others(37): Show c.-75+23178_-75+23195delATTTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43593669	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp2 HG01975.hp1 others(4): Show HG00639.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp2 HG02647.hp1 HG02897.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0008 a0001c0001t0038 a0001c0002t0001 others(3): Show a0001c0001t0008 a0001c0001t0038 a0001c0002t0001 a0001c0002t0036 a0001c0003t0037 a0001c0005t0005	a0001c0001t0008g0017 a0001c0001t0038g0177 a0001c0002t0001g0066 others(4): Show a0001c0001t0008g0017 a0001c0001t0038g0177 a0001c0002t0001g0066 a0001c0002t0036g0164 a0001c0003t0037g0136 a0001c0005t0005g0137 a0001c0005t0005g0138	7	188	0.0372	-18	c.-21 others(39): Show c.-219+73792_-219+73809delGTGTGTGTGTGTGTGTGT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43726718	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01496.hp2 others(29): Show HG00639.hp1 HG01074.hp2 HG01496.hp2 HG01516.hp2 HG01975.hp1 HG02055.hp2 HG02135.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp2 NA18944.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18977.hp1 NA18978.hp1 NA19004.hp1 NA19030.hp1 NA19056.hp1 NA19062.hp1 NA19079.hp1 NA19081.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0042 a0001c0002t0006 a0001c0002t0036 a0001c0003t0037 a0001c0005t0005 a0002c0006t0006	a0001c0001t0002g0063 a0001c0001t0005g0140 a0001c0001t0005g0145 others(29): Show a0001c0001t0002g0063 a0001c0001t0005g0140 a0001c0001t0005g0145 a0001c0001t0005g0152 a0001c0001t0005g0155 a0001c0001t0005g0166 a0001c0001t0005g0168 a0001c0001t0006g0141 a0001c0001t0007g0134 a0001c0001t0007g0142 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0157 a0001c0001t0011g0165 a0001c0001t0031g0159 a0001c0001t0032g0167 a0001c0001t0033g0156 a0001c0001t0034g0148 a0001c0001t0040g0139 a0001c0001t0042g0188 a0001c0002t0006g0143 a0001c0002t0006g0151 a0001c0002t0006g0153 a0001c0002t0006g0154 a0001c0002t0006g0158 a0001c0002t0006g0160 a0001c0002t0006g0169 a0001c0002t0036g0164 a0001c0003t0037g0136 a0001c0005t0005g0137 a0001c0005t0005g0138 a0002c0006t0006g0147	32	188	0.1702	-18	c.-28 others(39): Show c.-284-59192_-284-59175delCACACACACACACACACA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43734199	GGTTGTTG others(11): Show GGTTGTTGTTGTTGTTGTT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0007 a0001c0001t0020g0007	1	188	0.0053	-18	c.-28 others(39): Show c.-285+52435_-285+52452delAACAACAACAACAACAAC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01981.hp2 HG02602.hp1 others(7): Show HG01361.hp1 HG01981.hp2 HG02602.hp1 HG02717.hp2 HG03195.hp1 HG03942.hp1 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0026 a0001c0002t0001 a0002c0004t0001 a0002c0004t0015	a0001c0001t0001g0098 a0001c0001t0003g0055 a0001c0001t0003g0067 others(7): Show a0001c0001t0001g0098 a0001c0001t0003g0055 a0001c0001t0003g0067 a0001c0001t0004g0102 a0001c0001t0008g0017 a0001c0001t0008g0025 a0001c0001t0026g0092 a0001c0002t0001g0014 a0002c0004t0001g0069 a0002c0004t0015g0070	10	188	0.0532	-18	c.-42 others(29): Show c.-4234_-4217delTTTTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding					3612		chr13	TogoVar
ENPP1_chr6_131803020_131900155	131811376	ATATATCT others(11): Show ATATATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0121 a0002c0002t0050g0121	1	292	0.0034	-18	c.240 others(35): Show c.240+3143_240+3160delCTATATCTATATCTATAT		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184101304	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0057 a0002c0001t0001g0057	1	320	0.0031	-18	c.994 others(35): Show c.994-3954_994-3937delCACACACACACACACACA		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	6/7						chr4	TogoVar
ENPP6_chr4_184083706_184222873	184101334	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03486.hp1 HG02615.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0108 a0001c0003t0003g0071 a0001c0003t0003g0108	2	320	0.0063	-18	c.994 others(35): Show c.994-3984_994-3967delTACACACACACACACACA		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	6/7						chr4	TogoVar
ENPP6_chr4_184083706_184222873	184119312	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp2 others(25): Show HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02071.hp1 HG02258.hp2 HG02280.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG03017.hp1 HG03041.hp2 HG03491.hp2 HG03704.hp2 HG03710.hp2 HG04228.hp2 NA18952.hp2 NA18965.hp2 NA18974.hp1 NA18983.hp2 NA19006.hp1 NA19065.hp2 NA19084.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0013 others(2): Show a0001c0002 a0001c0003 a0001c0013 a0002c0001 a0002c0012	a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 others(8): Show a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 a0001c0013t0003 a0002c0001t0001 a0002c0001t0006 a0002c0001t0010 a0002c0001t0011 a0002c0001t0021 a0002c0001t0024 a0002c0012t0001	a0001c0002t0002g0042 a0001c0002t0002g0058 a0001c0002t0002g0166 others(24): Show a0001c0002t0002g0042 a0001c0002t0002g0058 a0001c0002t0002g0166 a0001c0002t0002g0177 a0001c0002t0002g0259 a0001c0003t0003g0055 a0001c0003t0003g0121 a0001c0003t0004g0017 a0001c0003t0004g0243 a0001c0003t0004g0308 a0001c0013t0003g0126 a0002c0001t0001g0012 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0175 a0002c0001t0001g0188 a0002c0001t0001g0203 a0002c0001t0001g0216 a0002c0001t0001g0266 a0002c0001t0006g0080 a0002c0001t0010g0001 a0002c0001t0011g0211 a0002c0001t0021g0018 a0002c0001t0024g0085 a0002c0012t0001g0036	28	320	0.0875	-18	c.534 others(35): Show c.534-1430_534-1413delACACACACACACACACAC		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	3/7						chr4	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01099.hp1 others(6): Show HG00323.hp2 HG01081.hp2 HG01099.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG03688.hp2 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0002c0001 a0002c0012 others(2): Show a0001c0002 a0002c0001 a0002c0012 a0005c0013 a0006c0015	a0001c0002t0002 a0002c0001t0001 a0002c0012t0002 others(2): Show a0001c0002t0002 a0002c0001t0001 a0002c0012t0002 a0005c0013t0002 a0006c0015t0002	a0001c0002t0002g0078 a0002c0001t0001g0004 a0002c0001t0001g0029 others(5): Show a0001c0002t0002g0078 a0002c0001t0001g0004 a0002c0001t0001g0029 a0002c0001t0001g0139 a0002c0001t0001g0168 a0002c0012t0002g0107 a0005c0013t0002g0072 a0006c0015t0002g0234	9	430	0.0209	-18	c.44 others(29): Show c.4419_*4436delAAAAAAAAAAAAAAAAAA		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding					3977		chr17	TogoVar
ENPP7_chr17_79725943_79747219	79746224	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0069 a0005c0013t0002g0069	1	430	0.0023	-18	c.44 others(29): Show c.4448_*4465delAAAAAAAAAAAAAAAAAC		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding					4006		chr17	TogoVar
ENPP7_chr17_79725943_79747219	79746627	AGGGAAGG others(11): Show AGGGAAGGGATCCCCTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	430	0.0023	-18	c.48 others(29): Show c.4851_*4868delGGGAAGGGATCCCCTGAG		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding					4409		chr17	TogoVar
ENTPD1_chr10_95751163_95882266	95760814	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp1 HG02976.hp2 others(2): Show HG02630.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0307 a0001c0001t0013g0308 others(1): Show a0001c0001t0013g0015 a0001c0001t0013g0307 a0001c0001t0013g0308 a0001c0001t0013g0309	5	340	0.0147	-18	c.16+ others(33): Show c.16+4575_16+4592delTTTTTTTTTTTTTTTTTT		ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD5_chr14_73958230_74024288	74005272	AAAAAAAA others(11): Show AAAAAAAAAAGAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0349 a0001c0002t0002g0349	1	380	0.0026	-18	c.-71 others(35): Show c.-71+5801_-71+5818delCTTTTTTTCTTTTTTTTT		ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15						chr14	TogoVar
ENTPD7_chr10_99654509_99716241	99700396	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG00738.hp2 others(55): Show HG00280.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02300.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18941.hp1 NA18974.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA19003.hp1 NA19006.hp1 NA19056.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0006 a0004c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0003t0001 a0001c0009t0002 a0002c0002t0001 a0002c0002t0030 a0002c0006t0001 a0004c0010t0005	a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0217 others(49): Show a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0217 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0005g0006 a0001c0001t0005g0033 a0001c0001t0005g0271 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0317 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0336 a0001c0001t0005g0338 a0001c0001t0005g0339 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0007g0279 a0001c0001t0014g0321 a0001c0001t0015g0028 a0001c0001t0022g0310 a0001c0001t0033g0294 a0001c0001t0035g0322 a0001c0001t0036g0326 a0001c0001t0038g0319 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0009t0002g0201 a0002c0002t0001g0119 a0002c0002t0001g0125 a0002c0002t0030g0128 a0002c0006t0001g0131 a0004c0010t0005g0311	58	408	0.1422	-18	c.133 others(35): Show c.1336-559_1336-542delATGTGTGTGTGTGTGTGT		ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD8_chr9_137429364_137446357	137440255	TCAGGACA others(11): Show TCAGGACAGCCCCCCAGAC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	392	0.0026	-18	c.-21 others(35): Show c.-21+1013_-21+1030delGTCTGGGGGGCTGTCCTG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440613	CCCCCCCA others(11): Show CCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18973.hp2 NA19004.hp2 others(4): Show NA18954.hp1 NA18973.hp2 NA19004.hp2 NA19011.hp1 NA19065.hp2 NA19074.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0103 a0001c0001t0002g0021 a0001c0001t0001g0020 a0001c0001t0001g0103 a0001c0001t0002g0021	7	392	0.0179	-18	c.-21 others(33): Show c.-21+655_-21+672delCTGTCCTGGTCTGGGGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441019	CCCCCCCA others(11): Show CCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01069.hp2 others(20): Show HG00597.hp2 HG00621.hp2 HG01069.hp2 HG02015.hp2 HG02056.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18940.hp2 NA18944.hp2 NA18948.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18975.hp1 NA18987.hp1 NA19002.hp1 NA19004.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0065 a0001c0001t0001g0107 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0065 a0001c0001t0001g0107 a0001c0001t0002g0008 a0001c0001t0002g0046 a0001c0001t0002g0064 a0002c0002t0001g0130	23	392	0.0587	-18	c.-21 others(33): Show c.-21+249_-21+266delCTGTCCTGGTCTGGGGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441146	CCCCCCCA others(11): Show CCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	392	0.0026	-18	c.-21 others(33): Show c.-21+122_-21+139delCTGTCCTGGTCTGGGGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441183	CCCCCCCA others(11): Show CCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(139): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18959.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19063.hp2 NA19067.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0008 a0009 a0010 a0012 a0013	a0001c0001 a0001c0005 a0001c0006 others(9): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0002c0002 a0003c0003 a0005c0008 a0008c0018 a0009c0012 a0010c0021 a0012c0016 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0005t0001 a0001c0006t0001 a0001c0007t0009 a0002c0002t0001 a0003c0003t0002 a0005c0008t0001 a0008c0018t0001 a0009c0012t0004 a0010c0021t0001 a0012c0016t0001 a0013c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0002g0039 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0135 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0004g0012 a0001c0001t0007g0131 a0001c0001t0007g0141 a0001c0001t0011g0134 a0001c0005t0001g0022 a0001c0005t0001g0124 a0001c0006t0001g0128 a0001c0007t0009g0136 a0002c0002t0001g0130 a0003c0003t0002g0145 a0005c0008t0001g0042 a0008c0018t0001g0147 a0009c0012t0004g0132 a0010c0021t0001g0117 a0012c0016t0001g0143 a0013c0017t0001g0121	142	392	0.3622	-18	c.-21 others(32): Show c.-21+85_-21+102delCTGTCCTGGTCTGGGGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29219610	CATAAATA others(11): Show CATAAATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	125	0.0080	-18	c.388 others(37): Show c.388-23064_388-23047delATATATATATATATTTAT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10						chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29219614	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0064 a0001c0008t0007g0064	1	125	0.0080	-18	c.388 others(37): Show c.388-23068_388-23051delATATATATATATATATAT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10						chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29414856	GAATACTA others(11): Show GAATACTATAAACACCTCT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG03041.hp1 HG01081.hp2 HG02055.hp2 HG03041.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0002c0015 a0006c0029 a0002c0003 a0002c0015 a0006c0029	a0002c0003t0013 a0002c0015t0005 a0006c0029t0029 a0002c0003t0013 a0002c0015t0005 a0006c0029t0029	a0002c0003t0013g0019 a0002c0015t0005g0070 a0006c0029t0029g0093 a0002c0003t0013g0019 a0002c0015t0005g0070 a0006c0029t0029g0093	3	125	0.0240	-18	c.220 others(37): Show c.220-33043_220-33026delAGAGGTGTTTATAGTATT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10						chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29472456	CACACACA others(11): Show CACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02895.hp1 others(4): Show HG01070.hp1 HG01071.hp1 HG02895.hp1 HG02897.hp2 HG03471.hp2 HG03540.hp2 NA19240.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0008 a0003c0006 others(2): Show a0001c0002 a0001c0008 a0003c0006 a0003c0014 a0007c0028	a0001c0002t0001 a0001c0008t0007 a0003c0006t0002 others(3): Show a0001c0002t0001 a0001c0008t0007 a0003c0006t0002 a0003c0014t0002 a0003c0014t0051 a0007c0028t0017	a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0008t0007g0106 others(4): Show a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0008t0007g0106 a0003c0006t0002g0107 a0003c0014t0002g0103 a0003c0014t0051g0124 a0007c0028t0017g0089	7	125	0.0560	-18	c.220 others(37): Show c.220-90643_220-90626delATGTGTGTGTGTGTGTGT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10						chr15	TogoVar
EOMES_chr3_27710953_27727323	27720531	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01934.hp1 HG02258.hp2 others(20): Show HG01109.hp1 HG01934.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG03834.hp1 NA18906.hp1 NA19076.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0011 a0002c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0011 a0002c0002t0004 a0002c0002t0008 a0002c0003t0003	a0001c0001t0001g0068 a0001c0001t0011g0069 a0002c0002t0004g0015 others(4): Show a0001c0001t0001g0068 a0001c0001t0011g0069 a0002c0002t0004g0015 a0002c0002t0008g0063 a0002c0002t0008g0064 a0002c0003t0003g0011 a0002c0003t0003g0024	23	400	0.0575	-18	c.882 others(33): Show c.882-224_882-207delTTTTTTTTTTTTTTTTTT		EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding	1/5						chr3	TogoVar
EP300_chr22_41087592_41185077	41167576	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18906.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0075 a0001c0001t0007 a0001c0005t0075	a0001c0001t0007g0287 a0001c0005t0075g0134 a0001c0001t0007g0287 a0001c0005t0075g0134	2	300	0.0067	-18	c.387 others(35): Show c.3875-871_3875-854delGTGTGTGTATATATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01257.hp1 others(3): Show HG00642.hp2 HG01070.hp1 HG01257.hp1 HG01517.hp2 HG02559.hp2 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0024 a0002c0003 others(1): Show a0001c0001 a0001c0024 a0002c0003 a0002c0031	a0001c0001t0003 a0001c0024t0003 a0002c0003t0001 others(1): Show a0001c0001t0003 a0001c0024t0003 a0002c0003t0001 a0002c0031t0001	a0001c0001t0003g0255 a0001c0024t0003g0296 a0002c0003t0001g0149 others(3): Show a0001c0001t0003g0255 a0001c0024t0003g0296 a0002c0003t0001g0149 a0002c0003t0001g0158 a0002c0003t0001g0180 a0002c0031t0001g0154	6	300	0.0200	-18	c.387 others(35): Show c.3875-830_3875-813delTATATATATATATATATA		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41179880	TCACACAC others(11): Show TCACACACACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18959.hp1 NA19077.hp1 others(1): Show NA18946.hp1 NA18959.hp1 NA19077.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0037 a0001c0001t0019 a0001c0001t0037	a0001c0001t0019g0204 a0001c0001t0019g0205 a0001c0001t0019g0235 others(1): Show a0001c0001t0019g0204 a0001c0001t0019g0205 a0001c0001t0019g0235 a0001c0001t0037g0243	4	300	0.0133	-18	c.95 others(27): Show c.950_*967delACACACACACACACACAC		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	31/31				950	INFO_REALIGN_3_PRIME	chr22	TogoVar
EPAS1_chr2_46292407_46391697	46362959	GGTGGTGG others(11): Show GGTGGTGGTGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03130.hp2 others(1): Show HG02896.hp1 HG02897.hp1 HG03130.hp2 NA19030.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0008 a0008c0008t0042 a0001c0001t0008 a0008c0008t0042	a0001c0001t0008g0001 a0001c0001t0008g0045 a0008c0008t0042g0023 a0001c0001t0008g0001 a0001c0001t0008g0045 a0008c0008t0042g0023	4	326	0.0123	-18	c.779 others(35): Show c.779+1887_779+1904delAGTGGTGGTGGTGGTGGT		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36188627	CACACACA others(11): Show CACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG02027.hp1 others(14): Show HG00423.hp2 HG00558.hp2 HG02027.hp1 HG02080.hp2 HG02559.hp2 HG02615.hp2 HG03130.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp2 NA18965.hp1 NA18969.hp1 NA18993.hp1 NA19065.hp1 NA19076.hp2 NA19081.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0002t0005 others(4): Show a0001c0001t0004 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0011 a0001c0002t0022 a0001c0002t0023	a0001c0001t0004g0123 a0001c0002t0003g0006 a0001c0002t0003g0042 others(13): Show a0001c0001t0004g0123 a0001c0002t0003g0006 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0057 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0005g0055 a0001c0002t0010g0087 a0001c0002t0011g0033 a0001c0002t0022g0063 a0001c0002t0023g0061	17	236	0.0720	-18	c.102 others(35): Show c.1026+130_1026+147delCACACACACACACAGAGA		EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr20	TogoVar

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