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
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02896.hp2 others(1): Show HG02717.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0034 a0001c0001t0003g0093 a0001c0001t0003g0008 a0001c0001t0003g0034 a0001c0001t0003g0093	4	148	0.0270	28	c.-97 others(37): Show c.-977_-976insAAGGAAGGAAGGAAGGCAGGCAGGCAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468851	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	304	0.0033	28	c.-29 others(39): Show c.-2973_-2972insATATATATATATATATATATATATATAT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2691		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	117	0.0085	28	c.-29 others(39): Show c.-2977_-2976insATATATATATATATATATATTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	117	0.0085	28	c.-29 others(39): Show c.-2977_-2976insATATATATATATATATATATATTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	117	0.0085	28	c.-29 others(39): Show c.-2977_-2976insATATATATATATATATATATATATATAT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF1_chr5_158690920_159104916	158883318	G G	GTGTATAT others(21): Show GTGTATATATATACACACACATACATGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01981.hp2 HG00140.hp1 HG01106.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0003 a0001c0002t0006 a0001c0001t0027 a0001c0002t0003 a0001c0002t0006	a0001c0001t0027g0104 a0001c0002t0003g0108 a0001c0002t0006g0022 a0001c0001t0027g0104 a0001c0002t0003g0108 a0001c0002t0006g0022	3	196	0.0153	28	c.555 others(47): Show c.555-43236_555-43209dupTGCATGTATGTGTGTGTATATATATA CA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158883344	G G	GCATGTAT others(21): Show GCATGTATATATATATATACACATACATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	196	0.0051	28	c.555 others(47): Show c.555-43262_555-43235dupTATGTATGTGTATATATATATATACA TG	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159087345	T T	TATATATA others(21): Show TATATATATACACATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0041 a0001c0002t0017g0041	1	196	0.0051	28	c.412 others(45): Show c.412-2634_412-2607dupGTGTGTATATATATATGTGTATATATAT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	4/15			chr5	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02970.hp2 HG03834.hp1 HG02698.hp1 HG02970.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0051 a0001c0001t0011g0189 a0001c0001t0012g0021 a0001c0001t0002g0051 a0001c0001t0011g0189 a0001c0001t0012g0021	3	51	0.0588	28	c.554 others(47): Show c.554+39579_554+39606dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
ECE1_chr1_21212250_21295463	21217709	C C	CTCTATGT others(21): Show CTCTATGTGGCAAGGGACTGCGGCTGGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0115 a0001c0001t0027g0115	1	302	0.0033	28	c.22 others(39): Show c.2245_*2246insAGCCAGCCGCAGTCCCTTGCCACATAGA	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	19/19	2245		chr1	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03239.hp2 HG03834.hp2 others(8): Show HG00544.hp1 HG03239.hp2 HG03834.hp2 HG04199.hp2 NA18981.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19063.hp2 NA19080.hp1 NA19081.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0001 a0002c0003t0003 a0003c0005t0002 a0002c0003t0001 a0002c0003t0003 a0003c0005t0002	a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0254 others(8): Show a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0254 a0002c0003t0001g0259 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0272 a0003c0005t0002g0279 a0003c0005t0002g0285	11	303	0.0363	28	c.22+ others(43): Show c.22+4207_22+4208insACACACACACACACACACACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECT2_chr3_172745726_172826474	172797018	C C	CAGATTCA others(21): Show CAGATTCATATATCAGGTTCAACTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0096	1	78	0.0128	28	c.190 others(47): Show c.1908-5598_1908-5597insAGATTCATATATCAGGTTCAACTGTG TG	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	18/24			chr3	TogoVar
EDARADD_chr1_236389286_236489930	236405862	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	287	0.0035	28	c.62- others(43): Show c.62-3351_62-3350insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 NA18967.hp2 HG02027.hp1 HG02080.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0126 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0126	3	142	0.0211	28	c.62- others(43): Show c.62-3339_62-3338insCTTCCTTCCTTCCTTCCTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0028 a0001c0003t0004g0028	1	140	0.0071	28	c.62- others(43): Show c.62-3339_62-3338insCTTCCTTCCTTCCTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	140	0.0071	28	c.62- others(43): Show c.62-3339_62-3338insCTTCCTTCCTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18944.hp2 NA18941.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0056 a0001c0001t0022g0057 a0001c0001t0002g0056 a0001c0001t0022g0057	2	141	0.0142	28	c.62- others(43): Show c.62-3339_62-3338insCTTCCTTCTTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(21): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02132.hp1 HG02080.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0005 a0001c0003t0001 a0001c0005t0005	a0001c0003t0001g0021 a0001c0005t0005g0033 a0001c0003t0001g0021 a0001c0005t0005g0033	2	141	0.0142	28	c.62- others(43): Show c.62-3339_62-3338insCTTCTTTCTTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG02080.hp1 others(7): Show HG00438.hp1 HG01934.hp1 HG02080.hp1 HG02922.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 NA18747.hp1 NA18951.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0102 a0001c0001t0001g0147 a0001c0001t0001g0162 others(7): Show a0001c0001t0001g0102 a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0002g0149 a0001c0001t0003g0079 a0001c0001t0004g0124 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0006g0188	10	43	0.2326	28	c.396 others(47): Show c.396+39083_396+39084insATATATATATATATATATATATATAT AT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69888978	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG04228.hp1 NA18966.hp1 HG02015.hp1 HG04228.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0144 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0144	3	21	0.1429	28	c.397 others(47): Show c.397-68033_397-68006dupATATATATATATATATATATATATAT AT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74668729	T T	TGAAAGAA others(21): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01257.hp1 others(37): Show HG00099.hp1 HG00140.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG02148.hp2 HG02572.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03710.hp2 HG03831.hp2 NA18522.hp1 NA18747.hp1 NA18965.hp2 NA18968.hp1 NA18977.hp1 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19058.hp2 NA19063.hp2 NA19068.hp2 NA19081.hp1 NA20300.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0003c0006t0002	a0001c0001t0001g0041 a0001c0001t0001g0142 a0001c0001t0001g0148 others(36): Show a0001c0001t0001g0041 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0247 a0001c0001t0002g0013 a0001c0001t0002g0046 a0001c0001t0002g0176 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0256 a0001c0001t0003g0277 a0001c0001t0004g0002 a0001c0001t0004g0261 a0001c0001t0004g0262 a0003c0006t0002g0204	40	66	0.6061	28	c.484 others(45): Show c.484+2698_484+2725dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDC3_chr15_74625558_74701024	74668729	T T	TGAATGAA others(21): Show TGAATGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0267 a0001c0002t0002g0267	1	27	0.0370	28	c.484 others(45): Show c.484+2725_484+2726insTTTCTTTCTTTCTTTCTTTCTTTCATTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDDM13_chr19_56267748_56315454	56302484	C C	CCATCCTT others(21): Show CCATCCTTCTTCCCTCCCTTCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	154	0.0065	28	c.423 others(43): Show c.423+404_423+405insCCTTCTTCCTTCTCATCCTTCTTCCCTC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56302545	G G	GTTCCTCC others(21): Show GTTCCTCCCTCCCTCCCCCCTTCCTTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01978.hp1 HG02040.hp1 others(31): Show HG01175.hp1 HG01978.hp1 HG02040.hp1 HG02056.hp1 HG02135.hp1 HG02148.hp2 HG02523.hp2 HG03834.hp1 NA18612.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA19006.hp2 NA19009.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(27): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0318 a0001c0001t0001g0330 a0001c0001t0002g0126 a0001c0001t0002g0157 a0001c0001t0003g0321 a0001c0001t0007g0290	34	387	0.0879	28	c.423 others(43): Show c.423+459_423+486dupTCCCTCCCCCCTTCCTTTTCTTCCTCCC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56302545	G G	GTTCCTCC others(21): Show GTTCCTCCCTCCCTCCCCTCTTCCTTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	354	0.0028	28	c.423 others(43): Show c.423+467_423+468insTCTTCCTTTTCTTCCTCCCTCCCTCCCC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDIL3_chr5_83935554_84389880	83987865	G G	GTGTGTGT others(21): Show GTGTGTGTGTATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0005g0032 a0001c0002t0005g0033	2	140	0.0143	28	c.113 others(49): Show c.1138-24506_1138-24505insTATATATATATATATACATACACA CACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	18	0.0556	28	c.196 others(45): Show c.196+1590_196+1591insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02523.hp1 HG01993.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0133 a0001c0002t0004g0062 a0001c0001t0003g0133 a0001c0002t0004g0062	2	3	0.6667	28	c.68- others(43): Show c.68-8475_68-8448dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0318 a0001c0001t0004g0318	1	184	0.0054	28	c.400 others(45): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769248	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	18	0.0556	28	c.400 others(45): Show c.400-3641_400-3640insCATATATATATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01069.hp1 others(24): Show HG00140.hp2 HG00280.hp2 HG01069.hp1 HG01168.hp1 HG02040.hp1 HG02055.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02280.hp2 HG02683.hp2 HG02717.hp2 HG03098.hp2 HG04184.hp1 HG06807.hp1 NA18939.hp2 NA18941.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18978.hp1 NA18983.hp1 NA18992.hp2 NA19000.hp2 NA19074.hp2 NA19075.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0002c0002t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 others(24): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0007g0223 a0001c0001t0011g0320 a0001c0001t0019g0112 a0002c0002t0001g0011	27	106	0.2547	28	c.291 others(43): Show c.291+332_291+333insTATATATATATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18522.hp2 NA20129.hp1 HG02723.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314	3	82	0.0366	28	c.291 others(43): Show c.291+332_291+333insTATATATATATATATATATATATATAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1B2_chr2_206154895_206167928	206163433	C C	CAACGGTT others(21): Show CAACGGTTGCAGCTGGGAACGGGCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	358	0.0028	28	c.55 others(37): Show c.550_*551insAACGGTTGCAGCTGGGAACGGGCCTGGG	EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding		506		chr2	TogoVar
EEF1E1_chr6_8074395_8107548	8101243	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	292	0.0034	28	c.87+ others(43): Show c.87+1191_87+1192insATATATATATTTTTTTTTTTTTTTTTTT	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCGCCCCC others(21): Show CCGCCCCCCCCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02165.hp1 NA18946.hp2 others(6): Show HG02015.hp1 HG02165.hp1 NA18946.hp2 NA18955.hp1 NA18962.hp1 NA18986.hp2 NA18999.hp1 NA19043.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0160 a0001c0001t0001g0171 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0199	9	228	0.0395	28	c.-51 others(37): Show c.-517_-516insCGCCCCCCCCGCCCCCCCCGCCCCCCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128153002	G G	GCCCCCGT others(21): Show GCCCCCGTCTTCCCCCCGCCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01192.hp2 others(7): Show HG00140.hp2 HG01070.hp2 HG01192.hp2 HG01496.hp2 HG02145.hp2 HG02615.hp1 HG03942.hp2 NA18980.hp2 NA18998.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0227 others(7): Show a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0261 a0001c0001t0001g0263	10	234	0.0427	28	c.-50 others(37): Show c.-506_-505insCCCCCGTCTTCCCCCCGCCCCCCCCCGC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		478		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128330922	C C	CTTCCTCA others(21): Show CTTCCTCAGTGCATCTCCCCTCTTCCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02559.hp2 HG02055.hp1 HG02451.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0038 a0001c0003t0001g0204 a0001c0003t0001g0207 a0001c0002t0001g0038 a0001c0003t0001g0204 a0001c0003t0001g0207	3	261	0.0115	28	c.787 others(47): Show c.787-10284_787-10283insATTCCTCAGTGCATCTCCCCTCTTCC CC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128348277	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18995.hp1 NA19055.hp2 others(1): Show NA18960.hp1 NA18995.hp1 NA19055.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0004g0079	4	269	0.0149	28	c.144 others(47): Show c.1443+6393_1443+6420dupGTGTGTGTGTGCGTGTGTGTGTGTGT GT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00609.hp1 others(25): Show HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00741.hp1 HG01081.hp1 HG01192.hp2 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02738.hp2 HG03239.hp1 HG03490.hp2 HG03831.hp2 NA18612.hp1 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18969.hp2 NA19012.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0025 a0001c0002t0006 a0001c0001t0001 a0001c0001t0025 a0001c0002t0006	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0020 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0025g0199 a0001c0002t0006g0098	28	189	0.1481	28	c.-55 others(39): Show c.-5527_-5526insTATATATATATATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02622.hp1 HG03540.hp2 others(1): Show HG01167.hp1 HG02622.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0002t0006g0025 a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0002t0006g0025	4	265	0.0151	28	c.-55 others(39): Show c.-5540_-5539insGTATATATATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG02004.hp1 others(5): Show HG00738.hp2 HG01106.hp2 HG02004.hp1 HG02135.hp1 HG03579.hp1 NA18747.hp2 NA18940.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0139 a0001c0001t0001g0141	8	49	0.1633	28	c.137 others(47): Show c.137+19231_137+19232insGAGAGAGAGAGAGAGAGAGAGAGAGA GA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGAGAG others(21): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02896.hp1 HG02896.hp2 others(1): Show HG00642.hp2 HG02896.hp1 HG02896.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0023 a0001c0001t0001 a0001c0001t0005 a0001c0001t0023	a0001c0001t0001g0039 a0001c0001t0001g0095 a0001c0001t0005g0123 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0095 a0001c0001t0005g0123 a0001c0001t0023g0132	4	45	0.0889	28	c.137 others(47): Show c.137+19208_137+19209insTGAGAGAGAGAGAGAGAGAGAGAGAG AG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(21): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	42	0.0238	28	c.137 others(47): Show c.137+19208_137+19209insTGTGTGAGAGAGAGAGAGAGAGAGAG AG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0251 a0002c0003t0001g0252	2	58	0.0345	28	c.-20 others(39): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36165586	A A	AATTTATT others(21): Show AATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02280.hp2 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0340 a0001c0004t0011g0341 a0001c0004t0011g0340 a0001c0004t0011g0341	2	135	0.0148	28	c.878 others(47): Show c.878+10389_878+10416dupATTTATTTATTTATTTATTTATTTAT TT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36183888	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTGTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0020 a0003c0002t0020	a0003c0002t0020g0054 a0003c0002t0020g0054	1	13	0.0769	28	c.878 others(47): Show c.878+28686_878+28687insTTTTTTTTTTTTTTGTTTTTTTTTTT TG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7			chr7	TogoVar
EEPD1_chr7_36148254_36306538	36183888	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00642.hp1 others(4): Show HG00099.hp1 HG00639.hp2 HG00642.hp1 HG01106.hp2 HG01934.hp2 HG01981.hp1 HG02293.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0003c0002t0017 a0003c0002t0021 a0003c0002t0062	a0001c0001t0002g0236 a0001c0001t0004g0229 a0001c0001t0005g0050 others(4): Show a0001c0001t0002g0236 a0001c0001t0004g0229 a0001c0001t0005g0050 a0001c0001t0005g0051 a0003c0002t0017g0035 a0003c0002t0021g0062 a0003c0002t0062g0244	7	19	0.3684	28	c.878 others(47): Show c.878+28686_878+28687insTTTTTTTTTTTTTTTTTTTTTTTTTT TG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0163 a0001c0001t0001g0060 a0001c0001t0001g0163	3	245	0.0122	28	c.107 others(43): Show c.107-670_107-669insATATATATATATATATATTTTTTTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02976.hp1 HG01167.hp1 HG01169.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0017 a0001c0001t0001g0049	3	245	0.0122	28	c.107 others(43): Show c.107-670_107-669insATATATATATATATATATATATATTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(21): Show CATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	65	0.0154	28	c.410 others(47): Show c.410+50088_410+50089insATATGTATATATATATATATATATAT AT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar

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