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
EFCAB6_chr22_43523778_43817305	43689349	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0286 a0010c0010t0001g0286	1	290	0.0035	20	c.103 others(39): Show c.1032-1788_1032-1769dupTGTGTGTGTGTGTGTGTGTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	10/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43718063	C C	CCCATCCA others(13): Show CCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02572.hp2 HG02717.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0025 a0001c0001 a0020c0025	a0001c0001t0002 a0020c0025t0002 a0001c0001t0002 a0020c0025t0002	a0001c0001t0002g0010 a0020c0025t0002g0011 a0001c0001t0002g0010 a0020c0025t0002g0011	2	290	0.0069	20	c.758 others(37): Show c.758-1111_758-1092dupATGGATGGATGGATGGATGG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32875502	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01070.hp1 others(15): Show HG00099.hp2 HG00280.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01358.hp2 HG02148.hp1 HG02280.hp2 HG02976.hp2 HG03239.hp1 HG03516.hp1 HG03927.hp2 HG04184.hp2 NA18522.hp2 NA20129.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0006 a0008 a0015 a0021 a0033 a0045 a0047	a0001c0001 a0003c0003 a0004c0004 others(7): Show a0001c0001 a0003c0003 a0004c0004 a0006c0005 a0008c0007 a0015c0020 a0021c0061 a0033c0065 a0045c0055 a0047c0057	a0001c0001t0001 a0003c0003t0001 a0004c0004t0003 others(8): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0003 a0006c0005t0003 a0006c0005t0006 a0008c0007t0003 a0015c0020t0003 a0021c0061t0001 a0033c0065t0001 a0045c0055t0001 a0047c0057t0004	a0001c0001t0001g0240 a0003c0003t0001g0279 a0003c0003t0001g0282 others(15): Show a0001c0001t0001g0240 a0003c0003t0001g0279 a0003c0003t0001g0282 a0004c0004t0003g0073 a0004c0004t0003g0077 a0006c0005t0003g0064 a0006c0005t0003g0074 a0006c0005t0003g0075 a0006c0005t0003g0076 a0006c0005t0003g0078 a0006c0005t0003g0091 a0006c0005t0006g0020 a0008c0007t0003g0280 a0015c0020t0003g0090 a0021c0061t0001g0238 a0033c0065t0001g0060 a0045c0055t0001g0278 a0047c0057t0004g0249	18	284	0.0634	20	c.209 others(35): Show c.209-406_209-405insTTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939125	C C	CCCTTTCT others(13): Show CCCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0036 a0036	a0036c0059 a0036c0059	a0036c0059t0003 a0036c0059t0003	a0036c0059t0003g0071 a0036c0059t0003g0071	1	284	0.0035	20	c.279 others(39): Show c.2791-4511_2791-4510insCCTTTCTTTCTTTCTTTCTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26			chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939125	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18966.hp2 HG02071.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0213 a0001c0001t0001g0163 a0001c0001t0001g0213	2	284	0.0070	20	c.279 others(39): Show c.2791-4452_2791-4433dupTTTCTTTCTTTCTTTCTTTC	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32940003	G G	GCCTCCCT others(13): Show GCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp2 HG01167.hp1 others(11): Show HG00733.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01258.hp1 HG01515.hp2 HG02738.hp2 HG03098.hp2 HG03927.hp2 NA18979.hp2 NA18998.hp1 NA19081.hp2 NA20129.hp2	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0008 a0010 a0017 a0018 a0021 a0043	a0002c0002 a0004c0004 a0005c0037 others(6): Show a0002c0002 a0004c0004 a0005c0037 a0008c0007 a0010c0010 a0017c0018 a0018c0014 a0021c0062 a0043c0050	a0002c0002t0001 a0004c0004t0003 a0005c0037t0004 others(7): Show a0002c0002t0001 a0004c0004t0003 a0005c0037t0004 a0008c0007t0003 a0008c0007t0006 a0010c0010t0006 a0017c0018t0004 a0018c0014t0002 a0021c0062t0001 a0043c0050t0002	a0002c0002t0001g0190 a0004c0004t0003g0066 a0004c0004t0003g0073 others(11): Show a0002c0002t0001g0190 a0004c0004t0003g0066 a0004c0004t0003g0073 a0005c0037t0004g0183 a0008c0007t0003g0194 a0008c0007t0003g0280 a0008c0007t0006g0013 a0008c0007t0006g0044 a0010c0010t0006g0030 a0017c0018t0004g0147 a0017c0018t0004g0192 a0018c0014t0002g0040 a0021c0062t0001g0072 a0043c0050t0002g0218	14	284	0.0493	20	c.279 others(39): Show c.2791-3629_2791-3610dupCCCTCCCTCCCTCCCTCCCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32940023	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	284	0.0035	20	c.279 others(39): Show c.2791-3572_2791-3553dupCCTTCCTTCCTTCCTTCCTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55865188	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0129	1	350	0.0029	20	c.18 others(31): Show c.1884_*1885insATATATATATATATATATAT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding		778		chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55873066	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	350	0.0029	20	c.100 others(39): Show c.1000+1860_1000+1879dupTGTGTGTGTGTGTGTGTGTG	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55875333	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	350	0.0029	20	c.881 others(35): Show c.881-269_881-268insGTGTGTGTGTGTGTGTGTGT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	8/11			chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55875365	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02572.hp2 others(4): Show HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02922.hp2 HG03486.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0006t0002	a0001c0001t0001g0084 a0001c0001t0001g0202 a0001c0001t0002g0281 others(4): Show a0001c0001t0001g0084 a0001c0001t0001g0202 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0017g0090 a0001c0006t0002g0285	7	350	0.0200	20	c.881 others(35): Show c.881-301_881-300insATGTGTGTGTGTGTGTGTGT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	8/11			chr2	TogoVar
EFHB_chr3_19874472_19939217	19880229	C C	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0201 a0007c0008t0002g0201	1	344	0.0029	20	c.232 others(37): Show c.2329-445_2329-426dupAAATAAATAAATAAATAAAT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	12/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19892855	C C	CTAAAATA others(13): Show CTAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02572.hp2 others(11): Show HG01884.hp2 HG02145.hp2 HG02572.hp2 HG02622.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA19043.hp1	a0002 a0007 a0020 a0002 a0007 a0020	a0002c0010 a0007c0008 a0020c0023 a0002c0010 a0007c0008 a0020c0023	a0002c0010t0002 a0007c0008t0002 a0020c0023t0001 a0002c0010t0002 a0007c0008t0002 a0020c0023t0001	a0002c0010t0002g0189 a0002c0010t0002g0190 a0002c0010t0002g0192 others(10): Show a0002c0010t0002g0189 a0002c0010t0002g0190 a0002c0010t0002g0192 a0002c0010t0002g0193 a0002c0010t0002g0194 a0007c0008t0002g0008 a0007c0008t0002g0201 a0007c0008t0002g0202 a0007c0008t0002g0204 a0007c0008t0002g0205 a0007c0008t0002g0283 a0007c0008t0002g0284 a0020c0023t0001g0019	14	344	0.0407	20	c.172 others(39): Show c.1725+3812_1725+3831dupTTTTATTTTATTTTATTTTA	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19894989	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19240.hp1 NA18522.hp2 NA19240.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0023 a0008c0011t0001g0024 a0008c0011t0001g0023 a0008c0011t0001g0024	2	344	0.0058	20	c.172 others(39): Show c.1725+1697_1725+1698insATATATATATATATATTTTT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19894989	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp2 HG02723.hp1 HG02976.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0020 a0008c0011t0001g0022 a0008c0011t0001g0020 a0008c0011t0001g0022	2	344	0.0058	20	c.172 others(39): Show c.1725+1697_1725+1698insATATATATATATATATATTT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01891.hp2 HG02273.hp1 others(3): Show HG00544.hp1 HG01891.hp2 HG02273.hp1 HG02615.hp1 HG03239.hp2 NA20300.hp1	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0002 a0005c0006 a0012c0014 a0002c0002 a0005c0006 a0012c0014	a0002c0002t0001 a0005c0006t0001 a0012c0014t0001 a0002c0002t0001 a0005c0006t0001 a0012c0014t0001	a0002c0002t0001g0079 a0002c0002t0001g0107 a0002c0002t0001g0111 others(3): Show a0002c0002t0001g0079 a0002c0002t0001g0107 a0002c0002t0001g0111 a0005c0006t0001g0089 a0005c0006t0001g0098 a0012c0014t0001g0069	6	344	0.0174	20	c.128 others(39): Show c.1289-2833_1289-2814dupCTCTCTCTCTCTCTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908566	G G	GAGAAAGA others(13): Show GAGAAAGAGAGAAAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0035 a0002c0003t0001g0035	1	344	0.0029	20	c.128 others(39): Show c.1289-2818_1289-2817insTTCTCTCTTTCTCTCTTTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52481504	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA19083.hp2 NA18987.hp2 NA19083.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0084 a0004c0004t0008 a0004c0004t0084	a0004c0004t0008g0124 a0004c0004t0084g0137 a0004c0004t0008g0124 a0004c0004t0084g0137	2	396	0.0051	20	c.164 others(39): Show c.1640+1734_1640+1753dupTCTCTCTCTCTCTCTCTCTC	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(13): Show CATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01358.hp1 others(9): Show HG01109.hp2 HG01243.hp2 HG01358.hp1 HG01516.hp1 HG02074.hp2 HG02145.hp2 HG02602.hp2 HG02723.hp2 HG03516.hp2 HG03654.hp1 NA18906.hp1 NA18947.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0002 a0004c0004 others(1): Show a0001c0001 a0003c0002 a0004c0004 a0006c0006	a0001c0001t0013 a0001c0001t0037 a0001c0001t0074 others(5): Show a0001c0001t0013 a0001c0001t0037 a0001c0001t0074 a0001c0001t0094 a0001c0001t0095 a0003c0002t0037 a0004c0004t0075 a0006c0006t0073	a0001c0001t0013g0038 a0001c0001t0013g0043 a0001c0001t0013g0045 others(9): Show a0001c0001t0013g0038 a0001c0001t0013g0043 a0001c0001t0013g0045 a0001c0001t0013g0052 a0001c0001t0013g0054 a0001c0001t0037g0088 a0001c0001t0074g0042 a0001c0001t0094g0295 a0001c0001t0095g0197 a0003c0002t0037g0149 a0004c0004t0075g0121 a0006c0006t0073g0014	12	396	0.0303	20	c.10 others(31): Show c.1025_*1044dupATATATATATATATATATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44178129	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	221	0.0045	20	c.194 others(37): Show c.1949+218_1949+237dupTGTGTGTGTGTGTGTGTGTG	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	12/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03041.hp2 HG03225.hp1 others(4): Show HG02886.hp1 HG03041.hp2 HG03225.hp1 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0002c0008t0004	a0001c0001t0002g0081 a0001c0001t0002g0107 a0001c0001t0002g0197 others(4): Show a0001c0001t0002g0081 a0001c0001t0002g0107 a0001c0001t0002g0197 a0001c0001t0003g0016 a0001c0001t0011g0011 a0001c0001t0011g0049 a0002c0008t0004g0055	7	221	0.0317	20	c.175 others(39): Show c.1752-8572_1752-8571insTATATATATATATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG03130.hp1 HG02572.hp1 HG02818.hp2 HG03130.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0025 a0006c0007t0002g0026 a0006c0007t0002g0203 a0006c0007t0002g0025 a0006c0007t0002g0026 a0006c0007t0002g0203	3	221	0.0136	20	c.175 others(39): Show c.1752-8572_1752-8571insTATATATATATATATATACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232634994	G G	GGCGCTGC others(13): Show GGCGCTGCGTCGCCTGAGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00609.hp2 others(30): Show HG00099.hp2 HG00140.hp1 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG02055.hp2 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02738.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG04228.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0253 others(28): Show a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0256 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0257	33	382	0.0864	20	c.302 others(36): Show c.302+989_302+1008dupGCGCTGCGTCGCCTGAGCCT	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFHD1_chr2_232628604_232687776	232677207	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02129.hp1 HG02698.hp2 others(1): Show HG02056.hp1 HG02129.hp1 HG02698.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0329 a0001c0001t0004g0344 others(1): Show a0001c0001t0004g0176 a0001c0001t0004g0329 a0001c0001t0004g0344 a0001c0001t0004g0354	4	382	0.0105	20	c.586 others(37): Show c.586-4363_586-4344dupACACACACACACACACACAC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFHD2_chr1_15404888_15435339	15420508	A A	ATTATTTA others(13): Show ATTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02280.hp1 HG02559.hp1 others(2): Show HG01257.hp2 HG02280.hp1 HG02559.hp1 HG02647.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010	a0001c0002t0007g0063 a0001c0002t0007g0118 a0001c0002t0009g0034 others(1): Show a0001c0002t0007g0063 a0001c0002t0007g0118 a0001c0002t0009g0034 a0001c0002t0010g0236	5	424	0.0118	20	c.309 others(37): Show c.309-5356_309-5337dupATTTATTTATTTATTTATTT	EFHD2	ENSG00000142634.13	transcript	ENST00000375980.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFL1_chr15_82125233_82267734	82209316	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0036	1	368	0.0027	20	c.175 others(39): Show c.1750+5381_1750+5400dupGTGTGTGTGTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 NA19005.hp2 others(1): Show HG00423.hp1 HG00673.hp2 NA19005.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0117 a0002c0002t0001g0118 others(1): Show a0002c0002t0001g0109 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121	4	368	0.0109	20	c.175 others(39): Show c.1750+3102_1750+3121dupGTGTGTGTGTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107399318	C C	CGGAAAGG others(13): Show CGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00639.hp1 others(19): Show HG00280.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01243.hp1 HG01496.hp2 HG01981.hp1 HG02055.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG04199.hp1 NA18906.hp1 NA18956.hp2 NA18978.hp2 NA18983.hp2 NA19043.hp1 NA19081.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 others(16): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0052 a0001c0001t0057 a0001c0001t0061 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0001t0079 a0001c0001t0099	a0001c0001t0003g0049 a0001c0001t0003g0148 a0001c0001t0009g0143 others(19): Show a0001c0001t0003g0049 a0001c0001t0003g0148 a0001c0001t0009g0143 a0001c0001t0009g0182 a0001c0001t0015g0043 a0001c0001t0015g0122 a0001c0001t0018g0110 a0001c0001t0020g0060 a0001c0001t0022g0059 a0001c0001t0035g0167 a0001c0001t0036g0102 a0001c0001t0038g0024 a0001c0001t0039g0006 a0001c0001t0041g0172 a0001c0001t0052g0108 a0001c0001t0057g0177 a0001c0001t0061g0013 a0001c0001t0069g0015 a0001c0001t0072g0014 a0001c0001t0074g0031 a0001c0001t0079g0187 a0001c0001t0099g0128	22	190	0.1158	20	c.419 others(39): Show c.419-11567_419-11548dupTTTCCTTTCCTTTCCTTTCC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107498955	A A	AGTATGTA others(13): Show AGTATGTATGTATGTATGTAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18950.hp1 NA18994.hp2 others(1): Show HG01433.hp1 NA18950.hp1 NA18994.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0024 others(1): Show a0001c0001t0005 a0001c0001t0021 a0001c0001t0024 a0001c0001t0066	a0001c0001t0005g0065 a0001c0001t0021g0118 a0001c0001t0024g0046 others(1): Show a0001c0001t0005g0065 a0001c0001t0021g0118 a0001c0001t0024g0046 a0001c0001t0066g0166	4	190	0.0211	20	c.126 others(39): Show c.126-71466_126-71447dupATACATACATACATACATAC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107511002	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0039 a0001c0001t0090g0039	1	190	0.0053	20	c.126 others(39): Show c.126-83513_126-83494dupCACACACACACACACACACA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569559	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0062 a0001c0001t0096g0062	1	190	0.0053	20	c.125 others(41): Show c.125+100910_125+100929dupTATATATATATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107641021	T T	TAGATAGA others(13): Show TAGATAGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0086 a0001c0001t0047g0086	1	190	0.0053	20	c.125 others(39): Show c.125+29467_125+29468insGTCTGTCTGTCTATCTATCT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNB2_chr13_106484745_106540662	106487055	C C	CGGGTTCT others(13): Show CGGGTTCTTGCTGGAGGCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG06807.hp2 HG02895.hp2 HG02896.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0284 a0001c0001t0006g0012 a0001c0001t0002g0284 a0001c0001t0006g0012	3	356	0.0084	20	c.59 others(31): Show c.5984_*5985insACTGCCTCCAGCAAGAACCC	EFNB2	ENSG00000125266.8	transcript	ENST00000646441.1	protein_coding		2689		chr13	TogoVar
EFNB3_chr17_7700202_7716372	7714124	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG01934.hp2 others(21): Show HG00140.hp1 HG00423.hp2 HG01934.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02273.hp1 HG02735.hp1 HG02922.hp1 HG03831.hp2 NA18947.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18964.hp1 NA18977.hp2 NA18994.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19056.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0001 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0007g0004 a0001c0001t0016g0001 a0001c0001t0018g0001	24	434	0.0553	20	c.45 others(31): Show c.4548_*4549insGTGTGTGTGTGTGTGTGTGT	EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding		2753		chr17	TogoVar
EFR3A_chr8_131899093_132018642	132010405	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	412	0.0024	20	c.236 others(37): Show c.2361-384_2361-383insTATATATATATATATATATA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3A_chr8_131899093_132018642	132010407	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp2 HG03130.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0152 a0002c0002t0002g0243 a0002c0002t0001g0152 a0002c0002t0002g0243	2	412	0.0049	20	c.236 others(37): Show c.2361-359_2361-340dupTATATATATATATATATATA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(13): Show TATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0263 a0006c0008t0002g0263	1	412	0.0024	20	c.31 others(31): Show c.3116_*3117insATATATATATATACACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(13): Show TATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0264 a0006c0008t0002g0264	1	412	0.0024	20	c.31 others(31): Show c.3116_*3117insATATATATATATATACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG01167.hp2 others(1): Show HG00323.hp2 HG01109.hp2 HG01167.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0002 a0002c0002t0013 a0001c0001t0025 a0002c0002t0002 a0002c0002t0013	a0001c0001t0025g0375 a0002c0002t0002g0287 a0002c0002t0002g0292 others(1): Show a0001c0001t0025g0375 a0002c0002t0002g0287 a0002c0002t0002g0292 a0002c0002t0013g0084	4	412	0.0097	20	c.72 others(31): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02165.hp1 HG03491.hp2 others(6): Show HG00438.hp1 HG02165.hp1 HG03491.hp2 NA18942.hp2 NA18963.hp1 NA18968.hp2 NA18975.hp1 NA18983.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0012 a0001c0003t0006 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0003t0006 a0001c0003t0010	a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 others(6): Show a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0012g0084 a0001c0001t0012g0089 a0001c0003t0006g0082 a0001c0003t0010g0081 a0001c0003t0010g0083 a0001c0003t0010g0087	9	306	0.0294	20	c.7+4 others(33): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTT	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(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp2 HG01884.hp2 others(6): Show HG01106.hp1 HG01192.hp2 HG01884.hp2 HG02257.hp1 HG02622.hp2 HG02895.hp2 HG03654.hp1 HG03704.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0006 a0001c0003t0010	a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 others(6): Show a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0005g0201 a0001c0003t0006g0145 a0001c0003t0006g0146 a0001c0003t0010g0083 a0001c0003t0010g0137	9	306	0.0294	20	c.8-1 others(35): Show c.8-11033_8-11014dupTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25108807	T T	TGGCCAAC others(13): Show TGGCCAACATTATGAAACCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp2 HG02257.hp1 others(4): Show HG01106.hp1 HG01192.hp2 HG02257.hp1 HG03491.hp1 HG03492.hp1 HG03942.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0010 a0001c0003t0006 a0001c0003t0010	a0001c0003t0006g0144 a0001c0003t0006g0145 a0001c0003t0006g0146 others(4): Show a0001c0003t0006g0144 a0001c0003t0006g0145 a0001c0003t0006g0146 a0001c0003t0006g0147 a0001c0003t0006g0148 a0001c0003t0006g0149 a0001c0003t0010g0137	7	306	0.0229	20	c.363 others(37): Show c.363+5021_363+5040dupGGCCAACATTATGAAACCCC	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL6_chrX_13564601_13638575	13613157	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02027.hp1 others(5): Show HG01070.hp2 HG01071.hp2 HG02027.hp1 HG02559.hp2 HG02895.hp1 HG02976.hp2 HG03491.hp2 HG03492.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0007 a0001c0008 others(1): Show a0001c0001 a0001c0007 a0001c0008 a0009c0024	a0001c0001t0004 a0001c0001t0005 a0001c0007t0003 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0007t0003 a0001c0008t0001 a0009c0024t0001	a0001c0001t0004g0228 a0001c0001t0004g0230 a0001c0001t0005g0045 others(5): Show a0001c0001t0004g0228 a0001c0001t0004g0230 a0001c0001t0005g0045 a0001c0007t0003g0171 a0001c0007t0003g0172 a0001c0007t0003g0297 a0001c0008t0001g0173 a0009c0024t0001g0040	8	302	0.0265	20	c.779 others(37): Show c.779-4570_779-4551dupATATATATATATATATATAT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFL6_chrX_13564601_13638575	13623377	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00735.hp2 others(41): Show HG00323.hp2 HG00544.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01192.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02155.hp1 HG02602.hp1 HG02717.hp1 HG02738.hp1 HG03490.hp1 HG03688.hp1 HG04115.hp1 NA18940.hp1 NA18950.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19056.hp1 NA19067.hp1 NA19070.hp1 NA19082.hp1 NA19086.hp1 NA19089.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0019 a0013c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0004t0001 a0001c0005t0001 a0001c0019t0002 a0013c0023t0001	a0001c0001t0001g0005 a0001c0001t0001g0109 a0001c0001t0001g0111 others(39): Show a0001c0001t0001g0005 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0002g0071 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0003g0002 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0095 a0001c0001t0003g0155 a0001c0001t0008g0013 a0001c0001t0008g0294 a0001c0004t0001g0019 a0001c0004t0001g0194 a0001c0005t0001g0053 a0001c0019t0002g0065 a0013c0023t0001g0176	44	302	0.1457	20	c.118 others(37): Show c.1184-446_1184-427dupTTTTTTTTTTTTTTTTTTTT	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(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 NA19240.hp2 HG01243.hp1 HG02922.hp1 NA19240.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0004 a0011c0014 a0001c0001 a0004c0004 a0011c0014	a0001c0001t0005 a0004c0004t0009 a0011c0014t0013 a0001c0001t0005 a0004c0004t0009 a0011c0014t0013	a0001c0001t0005g0154 a0004c0004t0009g0006 a0011c0014t0013g0007 a0001c0001t0005g0154 a0004c0004t0009g0006 a0011c0014t0013g0007	3	190	0.0158	20	c.98- others(33): Show c.98-940_98-921dupCACACACACACACACACACA	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38391384	T T	TTGTTTGT others(13): Show TTGTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	190	0.0053	20	c.713 others(39): Show c.713-14739_713-14738insTTGTGTGTGTGTGTGTGTGT	EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02965.hp1 others(1): Show HG02280.hp2 HG02630.hp1 HG02965.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0016 a0001c0003t0019 a0001c0003t0064 others(1): Show a0001c0003t0016 a0001c0003t0019 a0001c0003t0064 a0001c0013t0051	a0001c0003t0016g0201 a0001c0003t0019g0140 a0001c0003t0064g0144 others(1): Show a0001c0003t0016g0201 a0001c0003t0019g0140 a0001c0003t0064g0144 a0001c0013t0051g0204	4	250	0.0160	20	c.270 others(39): Show c.2702-2524_2702-2523insTTTTTTTTTTTTTTTTTTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109919287	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	388	0.0026	20	c.127 others(37): Show c.127+5860_127+5879dupTCTCTCTCTCTCTCTCTCTC	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(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0021 a0003c0003t0005g0021	1	388	0.0026	20	c.128 others(37): Show c.128-8564_128-8563insATATATATATATATATATAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EGF_chr4_109907883_110018766	109951146	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp2 HG00735.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0028 a0001c0001t0011 a0001c0001t0028	a0001c0001t0011g0142 a0001c0001t0028g0242 a0001c0001t0011g0142 a0001c0001t0028g0242	2	388	0.0052	20	c.940 others(37): Show c.940+5907_940+5926dupAAAATAAAATAAAATAAAAT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr4	TogoVar

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