Joint Open Genome and Omics Platform (JoGo)

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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
EFEMP2_chr11_65861441_65877800	65869953	C C	CCCAAGCA others(17): Show CCCAAGCACTCGCTACTCTCATGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01943.hp1 HG01943.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0026 a0004c0005t0001g0026	1	374	0.0027	24	c.630 others(31): Show c.630_631insCCCATGAGAGTAGCGAGTGCTTGG	p.Gly others(37): Show p.Gly210_Ala211insProMetArgValAlaSerAlaTrp	EFEMP2	ENSG00000172638.13	transcript	ENST00000307998.11	protein_coding	7/11	755/1934	630/1332	210/443			chr11	TogoVar
EFHB_chr3_19874472_19939217	19894989	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0021 a0008c0011t0001g0021	1	344	0.0029	24	c.172 others(43): Show c.1725+1697_1725+1698insATATATATATATATATATATATAT		EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12						chr3	TogoVar
EFHB_chr3_19874472_19939217	19908554	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0018 a0005c0006t0003g0018	1	344	0.0029	24	c.128 others(43): Show c.1289-2806_1289-2805insCTCTCTCTCTCTCTCTCTCTCTCT		EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12						chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG03669.hp2 others(2): Show HG02630.hp1 HG03041.hp1 HG03669.hp2 HG03688.hp2 NA18906.hp1	a0002 a0005 a0007 others(1): Show a0002 a0005 a0007 a0012	a0002c0002 a0005c0006 a0007c0008 others(1): Show a0002c0002 a0005c0006 a0007c0008 a0012c0014	a0002c0002t0001 a0005c0006t0001 a0007c0008t0001 others(1): Show a0002c0002t0001 a0005c0006t0001 a0007c0008t0001 a0012c0014t0001	a0002c0002t0001g0103 a0005c0006t0001g0068 a0005c0006t0001g0115 others(2): Show a0002c0002t0001g0103 a0005c0006t0001g0068 a0005c0006t0001g0115 a0007c0008t0001g0116 a0012c0014t0001g0071	5	344	0.0145	24	c.128 others(43): Show c.1289-2837_1289-2814dupCTCTCTCTCTCTCTCTCTCTCTCT		EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12						chr3	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG02015.hp2 HG02257.hp2 others(9): Show HG01433.hp1 HG02015.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03834.hp1 HG03927.hp1 NA20300.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0011 a0003c0002 others(2): Show a0001c0001 a0001c0011 a0003c0002 a0004c0004 a0008c0009	a0001c0001t0011 a0001c0001t0036 a0001c0001t0092 others(5): Show a0001c0001t0011 a0001c0001t0036 a0001c0001t0092 a0001c0011t0011 a0003c0002t0034 a0003c0002t0068 a0004c0004t0036 a0008c0009t0093	a0001c0001t0011g0007 a0001c0001t0011g0050 a0001c0001t0011g0062 others(9): Show a0001c0001t0011g0007 a0001c0001t0011g0050 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0036g0205 a0001c0001t0092g0279 a0001c0011t0011g0019 a0003c0002t0034g0208 a0003c0002t0034g0216 a0003c0002t0068g0009 a0004c0004t0036g0128 a0008c0009t0093g0278	12	396	0.0303	24	c.10 others(35): Show c.1044_*1045insATATATATATATATATATATATAT		EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11				1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03579.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG03579.hp1 HG06807.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0024 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0024 a0003c0003t0002 a0004c0004t0002	a0001c0001t0002g0038 a0001c0001t0006g0005 a0001c0001t0024g0221 others(3): Show a0001c0001t0002g0038 a0001c0001t0006g0005 a0001c0001t0024g0221 a0003c0003t0002g0186 a0003c0003t0002g0187 a0004c0004t0002g0028	6	221	0.0272	24	c.175 others(43): Show c.1752-8572_1752-8571insTATATATATATATATATATATATA		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14						chrX	TogoVar
EFHD1_chr2_232628604_232687776	232633641	C C	CGCCCGCG others(17): Show CGCCCGCGAGTTTGTAGAGCCTCGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0351 a0001c0001t0012g0351	1	382	0.0026	24	c.-58 others(31): Show c.-58_-57insGAGTTTGTAGAGCCTCGAGCCCGC		EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/4				57	INFO_REALIGN_3_PRIME	chr2	TogoVar
EFHD1_chr2_232628604_232687776	232677207	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18942.hp2 NA18947.hp1 others(3): Show HG00408.hp2 NA18942.hp2 NA18947.hp1 NA18971.hp2 NA18972.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0338 a0001c0004t0004g0064 a0001c0004t0004g0104 others(3): Show a0001c0001t0004g0338 a0001c0004t0004g0064 a0001c0004t0004g0104 a0001c0004t0004g0135 a0001c0004t0004g0169 a0001c0004t0004g0208	6	382	0.0157	24	c.586 others(41): Show c.586-4367_586-4344dupACACACACACACACACACACACAC		EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04184.hp2 NA18982.hp1 HG03942.hp1 HG04184.hp2 NA18982.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0009 a0002c0002 a0005c0009	a0002c0002t0001 a0005c0009t0001 a0002c0002t0001 a0005c0009t0001	a0002c0002t0001g0104 a0002c0002t0001g0119 a0005c0009t0001g0006 a0002c0002t0001g0104 a0002c0002t0001g0119 a0005c0009t0001g0006	3	368	0.0082	24	c.175 others(43): Show c.1750+3098_1750+3121dupGTGTGTGTGTGTGTGTGTGTGTGT		EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19						chr15	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CCATATAT others(17): Show CCATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0038 a0001c0001t0011g0038	1	190	0.0053	24	c.126 others(43): Show c.126-48538_126-48537insTATATATATATATATATATATATG		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4						chr5	TogoVar
EFNA5_chr5_107371894_107675937	107640976	G G	GCAGGTAG others(17): Show GCAGGTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	190	0.0053	24	c.125 others(43): Show c.125+29512_125+29513insTCTATCTATCTATCTATCTACCTG		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4						chr5	TogoVar
EFNB3_chr17_7700202_7716372	7714124	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	434	0.0023	24	c.45 others(35): Show c.4548_*4549insGTGTGTGTGTGTGTGTGTGTGTGT		EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding					2753		chr17	TogoVar
EFR3A_chr8_131899093_132018642	132013977	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0019 a0001c0020t0019	a0001c0020t0019g0132 a0001c0020t0019g0132	1	412	0.0024	24	c.30 others(35): Show c.3082_*3083insAAAAAAAAATATATATATATATAT		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					336		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0229 a0007c0016t0002g0229	1	412	0.0024	24	c.31 others(35): Show c.3116_*3117insATATATATATATATACACACACAC		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	412	0.0024	24	c.31 others(35): Show c.3116_*3117insATATATATATATATATATACACAC		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00642.hp2 others(29): Show HG00099.hp2 HG00408.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01993.hp1 HG02071.hp1 HG02451.hp1 HG03017.hp2 HG03130.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 NA18948.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA18991.hp2 NA19065.hp1 NA19079.hp1 NA20805.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0006 a0013c0015	a0001c0001t0001 a0001c0001t0011 a0001c0003t0003 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0003t0003 a0001c0003t0016 a0002c0002t0002 a0002c0002t0018 a0005c0006t0002 a0013c0015t0002	a0001c0001t0001g0172 a0001c0001t0011g0222 a0001c0003t0003g0006 others(28): Show a0001c0001t0001g0172 a0001c0001t0011g0222 a0001c0003t0003g0006 a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0040 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0044 a0001c0003t0003g0050 a0001c0003t0003g0054 a0001c0003t0003g0066 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0076 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0016g0291 a0001c0003t0016g0343 a0002c0002t0002g0285 a0002c0002t0002g0325 a0002c0002t0002g0331 a0002c0002t0002g0357 a0002c0002t0002g0361 a0002c0002t0002g0365 a0002c0002t0018g0290 a0002c0002t0018g0381 a0005c0006t0002g0022 a0013c0015t0002g0373	32	412	0.0777	24	c.72 others(35): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAA		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	306	0.0033	24	c.7+4 others(37): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTT		EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0149 a0001c0003t0006g0149	1	306	0.0033	24	c.8-1 others(39): Show c.8-11037_8-11014dupTTTTTTTTTTTTTTTTTTTTTTTT		EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL6_chrX_13564601_13638575	13623377	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	302	0.0033	24	c.118 others(41): Show c.1184-427_1184-426insTTTTTTTTTTTTTTTTTTTTTTTT		EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFLAM_chr5_38253559_38470480	38336570	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0031 a0004c0031	a0004c0031t0013 a0004c0031t0013	a0004c0031t0013g0157 a0004c0031t0013g0157	1	190	0.0053	24	c.98- others(37): Show c.98-944_98-921dupCACACACACACACACACACACACA		EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
EGF_chr4_109907883_110018766	109932360	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02129.hp1 HG03516.hp2 others(2): Show HG00673.hp1 HG02129.hp1 HG03516.hp2 NA18984.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0025 a0002c0002t0006	a0001c0001t0002g0080 a0001c0001t0003g0074 a0001c0001t0018g0234 others(2): Show a0001c0001t0002g0080 a0001c0001t0003g0074 a0001c0001t0018g0234 a0001c0001t0025g0101 a0002c0002t0006g0083	5	388	0.0129	24	c.128 others(41): Show c.128-8569_128-8568insTATATATATATATATATATATATA		EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932382	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03017.hp1 HG03831.hp1 others(5): Show HG00621.hp1 HG03017.hp1 HG03831.hp1 NA18962.hp2 NA18965.hp2 NA18968.hp1 NA18971.hp2 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0003 a0001c0001 a0001c0016 a0003c0003	a0001c0001t0004 a0001c0016t0002 a0001c0016t0006 others(2): Show a0001c0001t0004 a0001c0016t0002 a0001c0016t0006 a0003c0003t0005 a0003c0003t0008	a0001c0001t0004g0019 a0001c0016t0002g0039 a0001c0016t0006g0023 others(5): Show a0001c0001t0004g0019 a0001c0016t0002g0039 a0001c0016t0006g0023 a0003c0003t0005g0024 a0003c0003t0005g0026 a0003c0003t0008g0025 a0003c0003t0008g0027 a0003c0003t0008g0049	8	388	0.0206	24	c.128 others(41): Show c.128-8564_128-8563insATATATATATATATATATATATAA		EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23						chr4	TogoVar
EGF_chr4_109907883_110018766	109968707	T T	TCTACCTA others(17): Show TCTACCTACCTACCTACCTACCTAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0019 a0019	a0019c0036 a0019c0036	a0019c0036t0020 a0019c0036t0020	a0019c0036t0020g0375 a0019c0036t0020g0375	1	388	0.0026	24	c.157 others(41): Show c.1576-241_1576-240insCCTACCTACCTACCTACCTACCTA		EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	10/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
EGLN3_chr14_33919227_33956074	33936236	T T	TATAAATA others(17): Show TATAAATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02559.hp1 others(8): Show HG02055.hp2 HG02145.hp1 HG02559.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp2 NA19043.hp2 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0040 a0001c0001t0006g0258 a0001c0001t0007g0288 others(4): Show a0001c0001t0001g0040 a0001c0001t0006g0258 a0001c0001t0007g0288 a0001c0001t0010g0054 a0001c0001t0010g0058 a0001c0001t0010g0216 a0001c0001t0018g0047	11	424	0.0259	24	c.358 others(41): Show c.358-5022_358-5021insTTATTTATTTATTTATTTATTTAT		EGLN3	ENSG00000129521.15	transcript	ENST00000250457.9	protein_coding	1/4						chr14	TogoVar
EHBP1_chr2_62700713_63051487	62900682	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 NA19240.hp2 HG01243.hp2 HG02109.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0004c0009t0001g0197 a0001c0001t0001g0062 a0001c0001t0001g0063 a0004c0009t0001g0197	3	198	0.0152	24	c.118 others(45): Show c.1185+26151_1185+26152insATATATATATATATATATATATAT		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	63019830	G G	GGGAGGGA others(17): Show GGGAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG02970.hp1 others(3): Show HG00280.hp1 HG00738.hp1 HG02970.hp1 HG03471.hp2 NA18612.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0196 a0001c0006t0001g0160	6	198	0.0303	24	c.310 others(45): Show c.3104-17702_3104-17701insGGGAAGGAAGGAAGGAAGGAAGGA		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAATTATA others(17): Show AAATTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0234 a0001c0004t0002g0234	1	398	0.0025	24	c.915 others(41): Show c.915+5056_915+5057insATTATATATATATATATATATATA		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31245528	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04184.hp1 HG03017.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0223 a0001c0003t0018g0224 a0001c0003t0018g0223 a0001c0003t0018g0224	2	378	0.0053	24	c.404 others(41): Show c.404+1081_404+1104dupATATATATATATATATATATATAT		EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD4_chr15_41890933_41977557	41949051	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0050	1	360	0.0028	24	c.413 others(41): Show c.413+4712_413+4713insGTATATATATATATATATATATAT		EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5						chr15	TogoVar
EHHADH_chr3_185185624_185259049	185194800	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	348	0.0029	24	c.911 others(41): Show c.911-1337_911-1314dupTTTTTTTTTTTTTTTTTTTTTTTT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	6/6						chr3	TogoVar
EHHADH_chr3_185185624_185259049	185213119	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02897.hp2 HG03579.hp1 HG00639.hp2 HG02897.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0027 a0003c0003t0001g0032 a0001c0001t0001g0023 a0001c0001t0001g0027 a0003c0003t0001g0032	3	348	0.0086	24	c.568 others(41): Show c.568+4993_568+5016dupTTTTTTTTTTTTTTTTTTTTTTTT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	5/6						chr3	TogoVar
EHMT1_chr9_137614005_137841127	137795401	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	170	0.0059	24	c.250 others(43): Show c.2506-3408_2506-3385dupACACACACACACACACACACACAC		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	16/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137809060	A A	AAAGAGCA others(17): Show AAAGAGCAGAGGGGTGGAGGAGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	170	0.0059	24	c.271 others(43): Show c.2713-2392_2713-2369dupAGGGGTGGAGGAGCCCAAGAGCAG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EID2B_chr19_39525987_39537852	39537216	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02027.hp1 HG00673.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	418	0.0048	24	c.-44 others(35): Show c.-4415_-4414insTTTTTTTTTTTTTTTTTTTTTTTT		EID2B	ENSG00000176401.6	transcript	ENST00000326282.5	protein_coding					4365		chr19	TogoVar
EID2_chr19_39533707_39545161	39537216	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	420	0.0024	24	c.21 others(35): Show c.2152_*2153insTTTTTTTTTTTTTTTTTTTTTTTT		EID2	ENSG00000176396.11	transcript	ENST00000390658.4	protein_coding					1490		chr19	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 NA18952.hp1 HG02970.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0008 a0001c0001t0001g0001 a0001c0001t0004g0008	2	278	0.0072	24	c.59 others(35): Show c.5936_*5937insTTTTTTTTTTTTTTTTTTTTTTTT		EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding					2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18966.hp2 NA19012.hp1 HG02738.hp1 NA18966.hp2 NA19012.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0009 a0002c0003t0001 a0002c0003t0009	a0002c0003t0001g0266 a0002c0003t0001g0284 a0002c0003t0009g0238 a0002c0003t0001g0266 a0002c0003t0001g0284 a0002c0003t0009g0238	3	418	0.0072	24	c.630 others(39): Show c.630+337_630+338insTATATATATATATATATATATATA		EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14						chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0005 a0006c0017t0005	a0006c0017t0005g0302 a0006c0017t0005g0302	1	418	0.0024	24	c.119 others(41): Show c.119-1910_119-1909insATATATATATATATATATATATAT		EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14						chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056628	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	418	0.0024	24	c.119 others(41): Show c.119-1925_119-1924insCATATATATATATATATATATATA		EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14						chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	368	0.0027	24	c.406 others(41): Show c.4065+289_4065+312dupATATATATATATATATATATATAT		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017522	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18971.hp1 NA18977.hp2 NA18962.hp1 NA18971.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0140 a0001c0001t0001g0001 a0001c0001t0001g0140	3	368	0.0082	24	c.406 others(41): Show c.4065+303_4065+304insAATATATATATATATATATATATA		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(17): Show ATATATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0230 a0007c0009t0003g0230	1	368	0.0027	24	c.406 others(41): Show c.4065+312_4065+313insATATATATATATATATACATGTAT		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(17): Show ATATATATATATATATATGTATATG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18977.hp1 NA18949.hp2 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0075 a0003c0003t0002g0095 a0003c0003t0002g0075 a0003c0003t0002g0095	2	368	0.0054	24	c.406 others(41): Show c.4065+312_4065+313insATATATATATATATGTATATGTAT		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(17): Show ATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0048 a0001c0001t0027g0048	1	326	0.0031	24	c.434 others(37): Show c.434-47_434-46insATATATATATATATATATTTATTT		EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03579.hp2 HG01243.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0029 a0001c0001t0010g0029	2	326	0.0061	24	c.434 others(37): Show c.434-47_434-46insATATATATATATATATATTTTTTT		EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	322	0.0031	24	c.295 others(39): Show c.295-753_295-752insAATATATATATATATATATATATA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18988.hp2 HG03516.hp1 NA18988.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0008 a0001c0002 a0007c0008	a0001c0002t0001 a0007c0008t0001 a0001c0002t0001 a0007c0008t0001	a0001c0002t0001g0140 a0007c0008t0001g0166 a0001c0002t0001g0140 a0007c0008t0001g0166	2	322	0.0062	24	c.295 others(39): Show c.295-753_295-752insAAAATATATATATATATATATATA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp2 HG01123.hp1 others(2): Show HG00280.hp2 HG01071.hp2 HG01123.hp1 HG02056.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0051 others(2): Show a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0076 a0001c0001t0002g0082	5	322	0.0155	24	c.295 others(43): Show c.295-10313_295-10290dupAAAAAAAAAAAAAAAAAAAAAAAA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02602.hp1 NA18612.hp2 others(3): Show HG01123.hp1 HG02602.hp1 NA18612.hp2 NA18955.hp2 NA19058.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0076 a0001c0001t0002g0077 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080	6	322	0.0186	24	c.-10 others(41): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11						chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	426	0.0024	24	c.168 others(41): Show c.1684+110_1684+111insACACACACACACGCACACACACAC		EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14						chr1	TogoVar

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