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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0204 a0001c0001t0006g0204	1	47	0.0213	38	c.26- others(51): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0002 a0001c0004t0007g0002	1	151	0.0066	38	c.525 others(55): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18952.hp2 HG00741.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0028 a0001c0004t0003 a0001c0001t0028 a0001c0004t0003	a0001c0001t0028g0184 a0001c0004t0003g0117 a0001c0001t0028g0184 a0001c0004t0003g0117	2	95	0.0211	38	c.243 others(57): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0053 a0001c0018t0001g0053	1	222	0.0045	38	c.243 others(57): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENPP1_chr6_131803020_131900155	131811376	A A	ATATATCT others(31): Show ATATATCTATATCTATATCTATATCTATATATCTATATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0139 a0002c0003t0011g0139	1	129	0.0078	38	c.240 others(55): Show c.240+3130_240+3131insATCTATATCTATATCTATATCTATATCT ATATCTATAT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(31): Show CATATATATATATACACATATATACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0073 a0002c0001t0002g0073	1	242	0.0041	38	c.253 others(53): Show c.253+739_253+740insATACACATATATACACATATATATATATAT ATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(31): Show CATATATATATATATACATATATACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01175.hp2 others(20): Show HG00558.hp1 HG00639.hp2 HG01175.hp2 HG01433.hp1 HG01516.hp2 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02602.hp2 HG02735.hp2 HG04199.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18957.hp2 NA18967.hp2 NA18973.hp1 NA18979.hp2 NA18995.hp1 NA19007.hp1 NA19064.hp2 NA19068.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0008 a0002c0001 others(1): Show a0001c0003 a0001c0008 a0002c0001 a0002c0021	a0001c0003t0001 a0001c0003t0004 a0001c0008t0001 others(3): Show a0001c0003t0001 a0001c0003t0004 a0001c0008t0001 a0002c0001t0001 a0002c0001t0002 a0002c0021t0001	a0001c0003t0001g0005 a0001c0003t0004g0005 a0001c0008t0001g0052 others(12): Show a0001c0003t0001g0005 a0001c0003t0004g0005 a0001c0008t0001g0052 a0002c0001t0001g0005 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0052 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0002g0005 a0002c0001t0002g0153 a0002c0021t0001g0005	23	264	0.0871	38	c.253 others(53): Show c.253+739_253+740insATATACATATATACACATATATATATATAT ATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(31): Show CATATATATATATATATACATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0190 a0003c0005t0001g0190	1	242	0.0041	38	c.253 others(53): Show c.253+739_253+740insATATATACATATATACACATATATATATAT ATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732132	G G	GTGTATAT others(31): Show GTGTATATATATATATACACACATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02615.hp2 others(8): Show HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA20300.hp1	a0001 a0011 a0001 a0011	a0001c0003 a0001c0006 a0001c0023 others(1): Show a0001c0003 a0001c0006 a0001c0023 a0011c0030	a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0023t0001 a0011c0030t0001	a0001c0003t0001g0068 a0001c0003t0001g0238 a0001c0003t0002g0237 others(7): Show a0001c0003t0001g0068 a0001c0003t0001g0238 a0001c0003t0002g0237 a0001c0006t0001g0241 a0001c0006t0001g0243 a0001c0006t0002g0240 a0001c0006t0002g0242 a0001c0006t0006g0239 a0001c0023t0001g0244 a0011c0030t0001g0245	11	218	0.0505	38	c.253 others(53): Show c.253+741_253+742insGTATATATATATATACACACATATATATAC ATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTPD8_chr9_137429364_137446357	137431551	C C	CGATGTGG others(31): Show CGATGTGGATAGTGGAACGGTGGGATGGGAGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	390	0.0026	38	c.33 others(49): Show c.3362_*3363insCCCTCCCCCTCCCATCCCACCGTTCCACTATCCA CATC	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding		2812		chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440245	G G	GTCCCCCA others(31): Show GTCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	390	0.0026	38	c.-21 others(55): Show c.-21+1040_-21+1041insGCTGTCCTGGTCTGGGGGGGCTGTCCTG GTCTGGGGGA	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69335834	A A	ATGCGCCT others(31): Show ATGCGCCTGTAGTCCTGACGTGCGCCTGTAGTCCTGACG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(120): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18951.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18972.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19070.hp2 NA19076.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0009 a0001c0001 a0001c0003 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0007c0009t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(112): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0219 a0001c0001t0002g0282 a0001c0001t0002g0305 a0001c0001t0003g0273 a0001c0001t0006g0127 a0001c0001t0007g0180 a0001c0003t0001g0314 a0001c0003t0001g0315 a0007c0009t0001g0107	123	264	0.4659	38	c.415 others(53): Show c.415-345_415-344insGACGTGCGCCTGTAGTCCTGACGTGCGCCT GTAGTCCT	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69335857	G G	GCCTGTAG others(31): Show GCCTGTAGTCCTGACGTGCGCCTGTAGTCCTGACGTGCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19085.hp1 NA18971.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0135 a0001c0001t0002g0136	2	340	0.0059	38	c.415 others(53): Show c.415-345_415-344insGACGTGCGCCTGTAGTCCTGACGTGCACCT GTAGTCCT	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29344931	G G	GACACACA others(31): Show GACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0046 a0003c0006t0046	a0003c0006t0046g0037 a0003c0006t0046g0037	1	35	0.0286	38	c.276 others(57): Show c.276+36806_276+36843dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
EP400_chr12_131944942_132085460	132080746	C C	CACTGGCA others(31): Show CACTGGCACCAGTGTCCTTCCACACCCAGTCTGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02735.hp1 NA18995.hp1 others(2): Show HG02056.hp2 HG02735.hp1 NA18995.hp1 NA19064.hp1 NA19070.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0006 a0001c0018 a0002c0001 others(1): Show a0001c0006 a0001c0018 a0002c0001 a0015c0027	a0001c0006t0005 a0001c0018t0005 a0002c0001t0005 others(1): Show a0001c0006t0005 a0001c0018t0005 a0002c0001t0005 a0015c0027t0005	a0001c0006t0005g0199 a0001c0006t0005g0200 a0001c0018t0005g0203 others(2): Show a0001c0006t0005g0199 a0001c0006t0005g0200 a0001c0018t0005g0203 a0002c0001t0005g0015 a0015c0027t0005g0205	5	195	0.0256	38	c.30 others(49): Show c.3073_*3074insACTGGCACCAGTGTCCTTCCACACCCAGTCTGTG CCCA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding		287		chr12	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	46	0.0217	38	c.705 others(55): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	156	0.0064	38	c.-11 others(57): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATATATATACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03704.hp2 HG02886.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0042 a0001c0002t0002g0035 a0001c0002t0001g0042 a0001c0002t0002g0035	2	157	0.0127	38	c.-11 others(57): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATATATACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0086 a0012c0013t0001g0086	1	156	0.0064	38	c.-11 others(57): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATACACACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	15	0.0667	38	c.100 others(55): Show c.100-7016_100-7015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112415990	G G	GAAAATTA others(31): Show GAAAATTATTTTCCATTTAAATGGAAATTAAATGGAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0073 a0002c0003t0019g0073	1	226	0.0044	38	c.99+ others(53): Show c.99+2913_99+2950dupATTTCCATTTAATTTCCATTTAAATGGAAA ATAATTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109226742	T T	TATATGAA others(31): Show TATATGAAGAATATATATATATGAATATATATATGAAGA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0029 a0003c0007t0001g0029	1	316	0.0032	38	c.141 others(57): Show c.1410-9598_1410-9597insTCTTCATATATATATTCATATATATA TATTCTTCATAT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	15/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120098156	T T	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	4	0.2500	38	c.117 others(57): Show c.1179-2055_1179-2054insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02895.hp2 HG03579.hp2 others(2): Show HG02155.hp1 HG02895.hp2 HG03579.hp2 NA19085.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0007c0009t0002	a0001c0001t0001g0056 a0001c0001t0002g0171 a0001c0001t0002g0235 others(2): Show a0001c0001t0001g0056 a0001c0001t0002g0171 a0001c0001t0002g0235 a0001c0001t0026g0234 a0007c0009t0002g0125	5	214	0.0234	38	c.-8+ others(55): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18998.hp2 HG02257.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0126 a0001c0001t0005g0122 a0001c0001t0001g0126 a0001c0001t0005g0122	2	153	0.0131	38	c.-8+ others(55): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACCCCCC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19070.hp1 NA19062.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0008 a0001c0001t0001g0016	2	153	0.0131	38	c.-8+ others(55): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0131 a0001c0001t0006g0131	1	5	0.2000	38	c.270 others(57): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02165.hp2 HG01175.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0023 a0001c0010t0061 a0001c0001t0023 a0001c0010t0061	a0001c0001t0023g0182 a0001c0010t0061g0234 a0001c0001t0023g0182 a0001c0010t0061g0234	2	200	0.0100	38	c.910 others(57): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0071 a0001c0002t0006g0071	1	33	0.0303	38	c.111 others(59): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATATATATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97700883	C C	CAGGTGGT others(31): Show CAGGTGGTATGTTTTAAGACATTGTCTAATAGTACTGTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	82	0.0122	38	c.278 others(59): Show c.2785-19376_2785-19375insGTGGTATGTTTTAAGACATTGTCT AATAGTACTGTTAG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPPK1_chr8_143852324_143883467	143855412	C C	CTATATAT others(31): Show CTATATATCTATATCTATATATCTATATCTATATATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(137): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(68): Show a0001 a0003 a0004 a0005 a0006 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0018 a0020 a0022 a0023 a0026 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0044 a0045 a0046 a0048 a0055 a0061 a0063 a0064 a0068 a0069 a0072 a0073 a0075 a0076 a0081 a0084 a0087 a0089 a0090 a0101 a0104 a0117 a0121 a0123 a0126 a0127 a0128 a0131 a0132 a0135 a0141 a0142 a0143 a0144 a0145 a0146 a0147 a0148 a0150 a0151 a0156 a0157 a0159 a0162 a0167 a0168 a0169	a0001c0001 a0003c0003 a0003c0006 others(89): Show a0001c0001 a0003c0003 a0003c0006 a0003c0032 a0003c0084 a0003c0103 a0003c0114 a0004c0005 a0004c0015 a0004c0092 a0004c0093 a0004c0115 a0005c0007 a0006c0009 a0006c0085 a0006c0106 a0009c0037 a0010c0020 a0010c0137 a0010c0141 a0010c0146 a0012c0011 a0013c0056 a0013c0191 a0013c0192 a0014c0013 a0015c0012 a0016c0016 a0018c0017 a0020c0104 a0022c0041 a0023c0036 a0023c0082 a0026c0035 a0026c0091 a0032c0014 a0033c0033 a0033c0117 a0034c0038 a0035c0180 a0035c0181 a0036c0039 a0037c0049 a0038c0050 a0044c0040 a0045c0034 a0046c0096 a0046c0098 a0048c0030 a0055c0108 a0061c0183 a0063c0195 a0064c0076 a0068c0074 a0069c0067 a0072c0190 a0073c0102 a0075c0151 a0076c0086 a0081c0073 a0084c0080 a0087c0162 a0089c0182 a0090c0072 a0101c0227 a0104c0143 a0117c0121 a0121c0105 a0123c0139 a0126c0116 a0127c0171 a0128c0235 a0131c0147 a0132c0081 a0135c0226 a0141c0070 a0142c0068 a0143c0118 a0144c0077 a0145c0160 a0146c0069 a0147c0188 a0148c0184 a0150c0228 a0151c0107 a0156c0185 a0157c0209 a0159c0078 a0162c0199 a0167c0152 a0168c0196 a0169c0110	a0001c0001t0002 a0003c0003t0002 a0003c0006t0002 others(103): Show a0001c0001t0002 a0003c0003t0002 a0003c0006t0002 a0003c0006t0006 a0003c0006t0007 a0003c0032t0002 a0003c0084t0025 a0003c0103t0002 a0003c0114t0002 a0004c0005t0002 a0004c0005t0007 a0004c0005t0024 a0004c0015t0002 a0004c0015t0012 a0004c0092t0002 a0004c0093t0002 a0004c0115t0002 a0005c0007t0003 a0006c0009t0002 a0006c0085t0002 a0006c0106t0007 a0009c0037t0002 a0010c0020t0002 a0010c0020t0007 a0010c0020t0014 a0010c0137t0014 a0010c0141t0014 a0010c0146t0002 a0012c0011t0002 a0012c0011t0006 a0013c0056t0002 a0013c0191t0002 a0013c0192t0006 a0014c0013t0002 a0015c0012t0002 a0015c0012t0006 a0015c0012t0012 a0016c0016t0002 a0018c0017t0002 a0020c0104t0002 a0022c0041t0002 a0022c0041t0007 a0023c0036t0002 a0023c0082t0002 a0026c0035t0002 a0026c0035t0007 a0026c0091t0002 a0032c0014t0002 a0032c0014t0007 a0033c0033t0002 a0033c0117t0002 a0034c0038t0002 a0035c0180t0002 a0035c0181t0006 a0036c0039t0002 a0037c0049t0002 a0037c0049t0006 a0038c0050t0002 a0044c0040t0002 a0045c0034t0002 a0046c0096t0002 a0046c0098t0002 a0048c0030t0006 a0055c0108t0002 a0061c0183t0002 a0063c0195t0006 a0064c0076t0002 a0068c0074t0002 a0069c0067t0002 a0072c0190t0002 a0073c0102t0002 a0075c0151t0002 a0076c0086t0007 a0081c0073t0002 a0084c0080t0007 a0087c0162t0002 a0089c0182t0002 a0090c0072t0002 a0101c0227t0002 a0104c0143t0002 a0117c0121t0002 a0121c0105t0002 a0123c0139t0007 a0126c0116t0002 a0127c0171t0002 a0128c0235t0002 a0131c0147t0002 a0132c0081t0002 a0135c0226t0002 a0141c0070t0006 a0142c0068t0002 a0143c0118t0002 a0144c0077t0002 a0145c0160t0002 a0146c0069t0002 a0147c0188t0006 a0148c0184t0002 a0150c0228t0007 a0151c0107t0002 a0156c0185t0002 a0157c0209t0002 a0159c0078t0002 a0162c0199t0002 a0167c0152t0002 a0168c0196t0002 a0169c0110t0002	a0001c0001t0002g0100 a0003c0003t0002g0003 a0003c0003t0002g0336 others(118): Show a0001c0001t0002g0100 a0003c0003t0002g0003 a0003c0003t0002g0336 a0003c0006t0002g0089 a0003c0006t0002g0214 a0003c0006t0002g0307 a0003c0006t0006g0213 a0003c0006t0007g0316 a0003c0032t0002g0027 a0003c0084t0025g0204 a0003c0103t0002g0212 a0003c0114t0002g0302 a0004c0005t0002g0036 a0004c0005t0002g0082 a0004c0005t0002g0193 a0004c0005t0002g0205 a0004c0005t0007g0206 a0004c0005t0024g0287 a0004c0015t0002g0097 a0004c0015t0002g0202 a0004c0015t0012g0201 a0004c0092t0002g0314 a0004c0093t0002g0207 a0004c0115t0002g0054 a0005c0007t0003g0331 a0006c0009t0002g0040 a0006c0009t0002g0105 a0006c0085t0002g0259 a0006c0106t0007g0306 a0009c0037t0002g0208 a0010c0020t0002g0134 a0010c0020t0007g0135 a0010c0020t0014g0051 a0010c0137t0014g0138 a0010c0141t0014g0131 a0010c0146t0002g0133 a0012c0011t0002g0158 a0012c0011t0002g0173 a0012c0011t0002g0322 a0012c0011t0006g0072 a0013c0056t0002g0035 a0013c0191t0002g0149 a0013c0192t0006g0334 a0014c0013t0002g0030 a0014c0013t0002g0179 a0015c0012t0002g0023 a0015c0012t0006g0175 a0015c0012t0012g0174 a0016c0016t0002g0038 a0016c0016t0002g0098 a0018c0017t0002g0041 a0018c0017t0002g0317 a0020c0104t0002g0298 a0022c0041t0002g0076 a0022c0041t0007g0077 a0023c0036t0002g0283 a0023c0036t0002g0285 a0023c0082t0002g0203 a0026c0035t0002g0279 a0026c0035t0007g0104 a0026c0091t0002g0324 a0032c0014t0002g0044 a0032c0014t0007g0086 a0033c0033t0002g0292 a0033c0033t0002g0312 a0033c0117t0002g0339 a0034c0038t0002g0039 a0035c0180t0002g0171 a0035c0181t0006g0221 a0036c0039t0002g0308 a0037c0049t0002g0219 a0037c0049t0006g0091 a0038c0050t0002g0014 a0044c0040t0002g0028 a0045c0034t0002g0012 a0046c0096t0002g0210 a0046c0098t0002g0088 a0048c0030t0006g0084 a0055c0108t0002g0289 a0061c0183t0002g0157 a0063c0195t0006g0235 a0064c0076t0002g0238 a0068c0074t0002g0196 a0069c0067t0002g0194 a0072c0190t0002g0330 a0073c0102t0002g0211 a0075c0151t0002g0137 a0076c0086t0007g0260 a0081c0073t0002g0195 a0084c0080t0007g0199 a0087c0162t0002g0326 a0089c0182t0002g0321 a0090c0072t0002g0338 a0101c0227t0002g0141 a0104c0143t0002g0329 a0117c0121t0002g0075 a0121c0105t0002g0327 a0123c0139t0007g0151 a0126c0116t0002g0046 a0127c0171t0002g0309 a0128c0235t0002g0281 a0131c0147t0002g0136 a0132c0081t0002g0200 a0135c0226t0002g0304 a0141c0070t0006g0083 a0142c0068t0002g0064 a0143c0118t0002g0130 a0144c0077t0002g0291 a0145c0160t0002g0161 a0146c0069t0002g0311 a0147c0188t0006g0177 a0148c0184t0002g0222 a0150c0228t0007g0286 a0151c0107t0002g0299 a0156c0185t0002g0172 a0157c0209t0002g0227 a0159c0078t0002g0085 a0162c0199t0002g0282 a0167c0152t0002g0143 a0168c0196t0002g0106 a0169c0110t0002g0090	140	421	0.3325	38	c.25 others(49): Show c.2574_*2575insTAGATATATAGATATAGATATATAGATATAGATA TATA	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding		1911		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143855430	A A	ATATCTAT others(31): Show ATATCTATATCTATATATCTATATATATCTATATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0089 a0004c0089	a0004c0089t0006 a0004c0089t0006	a0004c0089t0006g0192 a0004c0089t0006g0192	1	422	0.0024	38	c.25 others(49): Show c.2556_*2557insGATAGATATAGATATATATAGATATATAGATATA GATA	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding		1893		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(31): Show CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02572.hp1 others(4): Show HG02559.hp1 HG02559.hp2 HG02572.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03579.hp2	a0025 a0030 a0042 others(2): Show a0025 a0030 a0042 a0095 a0096	a0025c0025 a0030c0131 a0030c0132 others(4): Show a0025c0025 a0030c0131 a0030c0132 a0030c0133 a0042c0045 a0095c0130 a0096c0218	a0025c0025t0003 a0030c0131t0009 a0030c0132t0009 others(4): Show a0025c0025t0003 a0030c0131t0009 a0030c0132t0009 a0030c0133t0009 a0042c0045t0001 a0095c0130t0009 a0096c0218t0005	a0025c0025t0003g0254 a0030c0131t0009g0250 a0030c0132t0009g0251 others(4): Show a0025c0025t0003g0254 a0030c0131t0009g0250 a0030c0132t0009g0251 a0030c0133t0009g0252 a0042c0045t0001g0125 a0095c0130t0009g0249 a0096c0218t0005g0248	7	158	0.0443	38	c.-46 others(51): Show c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGG GTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01496.hp2 others(27): Show HG00438.hp1 HG00558.hp2 HG01496.hp2 HG01952.hp2 HG01993.hp2 HG02071.hp2 HG02132.hp2 HG02145.hp2 HG02293.hp1 HG02622.hp2 HG02698.hp2 HG02895.hp1 HG02897.hp1 HG03225.hp2 HG04184.hp2 NA18747.hp2 NA18940.hp2 NA18945.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18974.hp1 NA18977.hp2 NA19060.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0002c0003t0002 a0001c0001t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0002g0081 a0001c0001t0002g0127 a0001c0001t0002g0233 others(27): Show a0001c0001t0002g0081 a0001c0001t0002g0127 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0306 a0001c0001t0002g0316 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0325 a0001c0001t0003g0322 a0002c0003t0002g0207	30	226	0.1327	38	c.432 others(55): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	197	0.0051	38	c.432 others(55): Show c.4323+273_4323+274insGTGTATATATATATATATATATATATAT ATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TTTATATA others(31): Show TTTATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	197	0.0051	38	c.432 others(55): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATAA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971801	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	356	0.0028	38	c.432 others(55): Show c.4323+267_4323+268insGTGTGTGTGTATATATATATATATATAT ATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS8L2_chr11_701231_732727	722969	C C	CCCAGAGC others(31): Show CCCAGAGCTCCCCTCCCCGGCCCCGACACCCACCCCTCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	249	0.0040	38	c.134 others(55): Show c.1341+201_1341+202insACCAGAGCTCCCCTCCCCGGCCCCGACA CCCACCCCTC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERBB4_chr2_211370717_212543802	211675792	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	23	0.0435	38	c.162 others(57): Show c.1623-2536_1623-2535insTATATATATATATATATATATATATA TATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211709254	C C	CATATATA others(31): Show CATATATATATATATATATATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	13	0.0769	38	c.112 others(57): Show c.1124+2795_1124+2796insATATATATATGTGTATATATATATAT ATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	9/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATTA others(31): Show TTATATTATATAATATATAATATATATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0070 a0001c0001t0014g0070	1	237	0.0042	38	c.534 others(55): Show c.534-2844_534-2843insTATATAATATATAATATATATTATAATA TATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATTA others(31): Show TTATATTATATAATATATATTATATATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00673.hp1 others(24): Show HG00099.hp2 HG00609.hp1 HG00673.hp1 HG01261.hp1 HG01978.hp2 HG02004.hp1 HG02080.hp2 NA18943.hp2 NA18946.hp1 NA18962.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA19000.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0051 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0014g0069	27	263	0.1027	38	c.534 others(55): Show c.534-2844_534-2843insTATATAATATATATTATATATTATAATA TATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(31): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02602.hp1 HG04199.hp1 others(1): Show HG02257.hp1 HG02602.hp1 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0067 a0001c0003t0002 others(1): Show a0001c0001t0003 a0001c0001t0067 a0001c0003t0002 a0001c0003t0007	a0001c0001t0003g0020 a0001c0001t0067g0132 a0001c0003t0002g0004 others(1): Show a0001c0001t0003g0020 a0001c0001t0067g0132 a0001c0003t0002g0004 a0001c0003t0007g0088	4	76	0.0526	38	c.156 others(57): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(31): Show ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00738.hp2 others(5): Show HG00323.hp1 HG00544.hp2 HG00738.hp2 HG01257.hp2 HG01358.hp1 HG01496.hp2 HG01952.hp1 HG01981.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0002c0002t0061	a0001c0001t0001g0016 a0001c0001t0004g0018 a0001c0001t0014g0050 others(5): Show a0001c0001t0001g0016 a0001c0001t0004g0018 a0001c0001t0014g0050 a0001c0001t0014g0051 a0001c0001t0014g0062 a0001c0001t0025g0026 a0001c0001t0026g0027 a0002c0002t0061g0025	8	80	0.1000	38	c.156 others(57): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121741	A A	ATCTCTAT others(31): Show ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0143 a0002c0002t0033g0143	1	79	0.0127	38	c.156 others(57): Show c.1569+5711_1569+5712insCTATCTCTATCTGTGTCTCTATCTCT ATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121779	A A	ATCTGTGT others(31): Show ATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp1 HG03579.hp1 HG06807.hp1	a0007 a0008 a0007 a0008	a0007c0012 a0008c0011 a0007c0012 a0008c0011	a0007c0012t0013 a0008c0011t0007 a0007c0012t0013 a0008c0011t0007	a0007c0012t0013g0067 a0008c0011t0007g0068 a0007c0012t0013g0067 a0008c0011t0007g0068	2	85	0.0235	38	c.156 others(57): Show c.1569+5749_1569+5750insGTGTCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121912	T T	TATCTGTG others(31): Show TATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0073 a0002c0002t0073	a0002c0002t0073g0052 a0002c0002t0073g0052	1	157	0.0064	38	c.156 others(57): Show c.1569+5883_1569+5884insGTGCCTATTGATATATCTGTATATAT CTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121931	G G	GTCTCTGT others(31): Show GTCTCTGTCTGTGTCTCTATATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0056 a0003c0004t0003g0056	1	128	0.0078	38	c.156 others(57): Show c.1569+5903_1569+5904insGTCTGTGTCTCTATATCTCTATCTCT ATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121937	A A	ATCTCTAT others(31): Show ATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0144 a0001c0001t0019g0144	1	99	0.0101	38	c.156 others(57): Show c.1569+5907_1569+5908insCTATCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122007	A A	ATCTCTAT others(31): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01517.hp1 HG02602.hp1 HG01346.hp2 HG01517.hp1 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0067 a0002c0002t0052 a0001c0001t0001 a0001c0001t0067 a0002c0002t0052	a0001c0001t0001g0086 a0001c0001t0067g0132 a0002c0002t0052g0145 a0001c0001t0001g0086 a0001c0001t0067g0132 a0002c0002t0052g0145	3	114	0.0263	38	c.156 others(57): Show c.1569+5977_1569+5978insCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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