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
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0181 a0002c0002t0004g0181	1	59	0.0169	32	c.154 others(49): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGAAAGAAAGAAAG AAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02602.hp1 HG02717.hp1 others(1): Show HG00735.hp1 HG02602.hp1 HG02717.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0012	a0001c0001t0001g0144 a0002c0002t0002g0145 a0002c0002t0004g0184 others(1): Show a0001c0001t0001g0144 a0002c0002t0002g0145 a0002c0002t0004g0184 a0002c0002t0012g0194	4	62	0.0645	32	c.154 others(49): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAAGAAAG AAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02970.hp1 HG03098.hp1 others(1): Show HG02132.hp2 HG02970.hp1 HG03098.hp1 NA19010.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0003t0003 a0002c0005t0005 a0002c0003t0002 a0002c0003t0003 a0002c0005t0005	a0002c0003t0002g0008 a0002c0003t0003g0019 a0002c0003t0003g0026 others(1): Show a0002c0003t0002g0008 a0002c0003t0003g0019 a0002c0003t0003g0026 a0002c0005t0005g0081	4	62	0.0645	32	c.154 others(49): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18960.hp2 NA18522.hp2 NA18960.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0013 a0002c0003t0003g0188 a0002c0003t0003g0013 a0002c0003t0003g0188	2	60	0.0333	32	c.154 others(49): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGGAAG AAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA5_chr4_65314567_65675489	65438431	T T	TATGTATC others(25): Show TATGTATCCATATATATATACATTCATGTATAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	232	0.0043	32	c.140 others(53): Show c.1403-17898_1403-17867dupTTATACATGAATGTATATATATAT GGATACAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574667	C C	CACATATA others(25): Show CACATATATATACATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0147 a0001c0001t0021g0147	1	230	0.0043	32	c.910 others(51): Show c.910+26973_910+26974insATATATATGTATATATATATGTATAT ATATGT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574675	T T	TATATACA others(25): Show TATATACACATATATATACACATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02523.hp2 HG03041.hp1 others(11): Show HG00621.hp1 HG02523.hp2 HG03041.hp1 HG03688.hp1 HG04204.hp1 NA18971.hp1 NA18973.hp1 NA18993.hp1 NA19002.hp2 NA19006.hp2 NA19066.hp1 NA19070.hp1 NA19079.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0004g0024 a0001c0001t0006g0036 a0001c0001t0024g0025 others(11): Show a0001c0001t0004g0024 a0001c0001t0006g0036 a0001c0001t0024g0025 a0001c0001t0024g0026 a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0100 a0001c0002t0002g0163 a0001c0004t0001g0126	14	222	0.0631	32	c.910 others(51): Show c.910+26965_910+26966insGTGTATATATATGTGTATATATATGT GTATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65579358	G G	GTATATAT others(25): Show GTATATATATATATATATATATATAAATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0022 a0001c0013t0001g0022	1	111	0.0090	32	c.910 others(51): Show c.910+22282_910+22283insTATATATTTATATATATATATATATA TATATA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65598517	C C	CCGCTACT others(25): Show CCGCTACTCCTGCCATCAAGGTGTATGTGGACT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0203 a0001c0002t0002g0203	1	232	0.0043	32	c.910 others(49): Show c.910+3092_910+3123dupAGTCCACATACACCTTGATGGCAGGAGT AGCG	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96994759	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGCGAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0010 a0001c0003t0004g0010	1	47	0.0213	32	c.111 others(51): Show c.1114+6769_1114+6770insAGAGAGAGAGAGAGAGAGAGAGAGCG AGCGAG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97001016	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0023 a0001c0004t0001 a0001c0004t0023	a0001c0004t0001g0075 a0001c0004t0023g0073 a0001c0004t0001g0075 a0001c0004t0023g0073	2	80	0.0250	32	c.111 others(53): Show c.1114+13023_1114+13024insTATATATATATATATATATATATA TATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPHA6_chr3_96809594_97766532	97001017	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG03225.hp2 others(1): Show HG02615.hp2 HG02886.hp1 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0001 a0001c0003t0004 a0001c0006t0021 a0001c0002t0001 a0001c0003t0004 a0001c0006t0021	a0001c0002t0001g0025 a0001c0002t0001g0043 a0001c0003t0004g0004 others(1): Show a0001c0002t0001g0025 a0001c0002t0001g0043 a0001c0003t0004g0004 a0001c0006t0021g0049	4	35	0.1143	32	c.111 others(53): Show c.1114+13038_1114+13039insATATATATATATATATATATATAT ATATATAT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG03225.hp1 others(1): Show HG02055.hp2 HG02572.hp1 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 others(1): Show a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 a0001c0003t0004	a0001c0001t0015g0082 a0001c0001t0017g0081 a0001c0002t0001g0030 others(1): Show a0001c0001t0015g0082 a0001c0001t0017g0081 a0001c0002t0001g0030 a0001c0003t0004g0010	4	36	0.1111	32	c.111 others(53): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA8_chr1_22558489_22608595	22599641	G G	GGGAGGGA others(25): Show GGGAGGGAAGGAAGGAAAGGAGGGAGGGAGGAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	304	0.0033	32	c.238 others(49): Show c.2388+641_2388+672dupAAAGGAGGGAGGGAGGAAGGAGGGAAGG AAGG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	134816053	A A	ACTTCTGA others(25): Show ACTTCTGAATGGCTTCCTGAACAGATAGAATAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp1 others(126): Show HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0002c0012 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0025 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0011 a0001c0003t0020 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0009 a0001c0004t0014 a0001c0005t0001 a0001c0005t0003 a0001c0005t0013 a0001c0006t0001 a0001c0006t0012 a0001c0006t0022 a0001c0006t0026 a0001c0007t0003 a0001c0007t0007 a0001c0007t0009 a0001c0008t0008 a0001c0009t0004 a0001c0010t0008 a0001c0011t0023 a0001c0013t0001 a0001c0015t0008 a0001c0016t0001 a0002c0012t0001 a0003c0014t0002	a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0051 others(126): Show a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0130 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0073 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0120 a0001c0001t0003g0034 a0001c0001t0003g0075 a0001c0001t0003g0090 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0006g0046 a0001c0001t0007g0028 a0001c0001t0009g0026 a0001c0001t0012g0081 a0001c0001t0014g0032 a0001c0001t0015g0110 a0001c0001t0017g0059 a0001c0001t0021g0058 a0001c0001t0024g0112 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0041 a0001c0002t0001g0050 a0001c0002t0001g0060 a0001c0002t0001g0065 a0001c0002t0001g0079 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0123 a0001c0002t0002g0011 a0001c0002t0002g0072 a0001c0002t0004g0113 a0001c0002t0006g0070 a0001c0002t0006g0125 a0001c0002t0007g0027 a0001c0002t0010g0095 a0001c0002t0010g0096 a0001c0002t0011g0098 a0001c0002t0015g0111 a0001c0002t0016g0117 a0001c0002t0016g0119 a0001c0002t0018g0121 a0001c0002t0019g0080 a0001c0002t0025g0107 a0001c0003t0001g0016 a0001c0003t0001g0043 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0054 a0001c0003t0001g0057 a0001c0003t0001g0064 a0001c0003t0001g0089 a0001c0003t0002g0008 a0001c0003t0002g0014 a0001c0003t0002g0017 a0001c0003t0002g0061 a0001c0003t0002g0063 a0001c0003t0002g0088 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0003g0003 a0001c0003t0003g0006 a0001c0003t0003g0035 a0001c0003t0004g0108 a0001c0003t0004g0109 a0001c0003t0004g0116 a0001c0003t0005g0099 a0001c0003t0006g0066 a0001c0003t0007g0031 a0001c0003t0011g0100 a0001c0003t0020g0124 a0001c0004t0001g0009 a0001c0004t0001g0020 a0001c0004t0001g0022 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0067 a0001c0004t0001g0071 a0001c0004t0001g0076 a0001c0004t0001g0129 a0001c0004t0002g0004 a0001c0004t0002g0015 a0001c0004t0002g0042 a0001c0004t0002g0052 a0001c0004t0002g0056 a0001c0004t0002g0082 a0001c0004t0002g0093 a0001c0004t0002g0131 a0001c0004t0003g0104 a0001c0004t0004g0114 a0001c0004t0004g0115 a0001c0004t0005g0097 a0001c0004t0009g0023 a0001c0004t0014g0018 a0001c0005t0001g0025 a0001c0005t0003g0128 a0001c0005t0013g0126 a0001c0005t0013g0127 a0001c0006t0001g0078 a0001c0006t0012g0077 a0001c0006t0022g0019 a0001c0006t0026g0106 a0001c0007t0003g0074 a0001c0007t0007g0029 a0001c0007t0009g0030 a0001c0008t0008g0024 a0001c0009t0004g0001 a0001c0010t0008g0105 a0001c0011t0023g0118 a0001c0013t0001g0007 a0001c0015t0008g0013 a0001c0016t0001g0069 a0002c0012t0001g0122 a0003c0014t0002g0040	129	132	0.9773	32	c.58+ others(49): Show c.58+20367_58+20368insCTGAATGGCTTCCTGAACAGATAGAATA GCTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183242	C C	CCCTTCCT others(25): Show CCCTTCCTCCCTCCCTCCCTTTCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0018 a0001c0004t0014g0018	1	132	0.0076	32	c.188 others(51): Show c.1882+3264_1882+3265insCCTCCCTCCCTCCCTTTCTTCCTTCC TTCCTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX4_chr1_92024985_92068538	92030483	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	193	0.0052	32	c.231 others(47): Show c.231+176_231+177insTGTGTGTGTGTGTGTGTGTGTGTGTGTGAG TG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPM2A_chr6_145620305_145740520	145623789	C C	CACATTGG others(25): Show CACATTGGCTCTGACCAGGGTTGTTCAGTAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	318	0.0031	32	c.35 others(43): Show c.3595_*3626dupCTTTACTGAACAACCCTGGTCAGAGCCAATGT	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding		1515		chr6	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	42	0.0238	32	c.114 others(51): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	197	0.0051	32	c.432 others(49): Show c.4323+273_4323+274insGTGTGTGTATATATATATATATATATAT ATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01433.hp1 others(11): Show HG01069.hp1 HG01069.hp2 HG01433.hp1 HG02257.hp2 HG02280.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 NA19012.hp1 NA20129.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0026 a0001c0001 a0014c0026	a0001c0001t0002 a0014c0026t0002 a0001c0001t0002 a0014c0026t0002	a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0001t0002g0073 others(11): Show a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0084 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0193 a0001c0001t0002g0239 a0001c0001t0002g0286 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0308 a0001c0001t0002g0343 a0014c0026t0002g0091	14	210	0.0667	32	c.432 others(49): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42926026	T T	TGGAAGGA others(25): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19011.hp1 HG02486.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0142 a0001c0001t0006g0294 a0001c0001t0004g0142 a0001c0001t0006g0294	2	324	0.0062	32	c.657 others(47): Show c.657+309_657+310insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(67): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03516.hp2 HG03579.hp1 HG03831.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18946.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18986.hp1 NA18994.hp2 NA19060.hp1 NA19060.hp2 NA19077.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0057 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0027 a0001c0005t0002 a0001c0006t0006	a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0221 others(65): Show a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0221 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0297 a0001c0001t0004g0002 a0001c0001t0004g0038 a0001c0001t0004g0054 a0001c0001t0004g0080 a0001c0001t0004g0093 a0001c0001t0004g0136 a0001c0001t0004g0152 a0001c0001t0004g0171 a0001c0001t0004g0174 a0001c0001t0006g0300 a0001c0001t0008g0013 a0001c0001t0008g0061 a0001c0001t0012g0334 a0001c0001t0013g0096 a0001c0001t0013g0110 a0001c0001t0016g0256 a0001c0001t0016g0338 a0001c0001t0016g0347 a0001c0001t0017g0159 a0001c0001t0017g0172 a0001c0001t0020g0154 a0001c0001t0021g0148 a0001c0001t0021g0156 a0001c0001t0021g0166 a0001c0001t0021g0167 a0001c0001t0021g0169 a0001c0001t0024g0207 a0001c0001t0024g0337 a0001c0001t0028g0199 a0001c0001t0029g0040 a0001c0001t0034g0168 a0001c0001t0057g0197 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0157 a0001c0002t0001g0173 a0001c0002t0003g0328 a0001c0002t0005g0001 a0001c0002t0005g0072 a0001c0002t0005g0149 a0001c0002t0006g0200 a0001c0002t0006g0245 a0001c0002t0006g0255 a0001c0002t0007g0348 a0001c0002t0009g0045 a0001c0002t0009g0047 a0001c0002t0009g0130 a0001c0002t0010g0290 a0001c0002t0010g0318 a0001c0002t0011g0147 a0001c0002t0011g0155 a0001c0002t0027g0065 a0001c0005t0002g0260 a0001c0005t0002g0284 a0001c0006t0006g0261 a0001c0006t0006g0262	70	189	0.3704	32	c.657 others(47): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
ERBB3_chr12_56075165_56108505	56098011	C C	CTTCCAGA others(25): Show CTTCCAGAGGCAAGCAGATGCTTCATGGTAAGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0112 a0009c0010t0002g0112	1	390	0.0026	32	c.261 others(48): Show c.2616+73_2616+104dupTCCAGAGGCAAGCAGATGCTTCATGGTAA GTT	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB4_chr2_211370717_212543802	211562769	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19043.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0044 a0001c0001t0017g0029 a0001c0001t0005g0044 a0001c0001t0017g0029	2	23	0.0870	32	c.230 others(49): Show c.2302-682_2302-681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211599513	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0022	1	8	0.1250	32	c.230 others(53): Show c.2301+19663_2301+19664insCACACACACACACACACACACACA CACACACA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211772852	T T	TATATATA others(25): Show TATATATACACATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	53	0.0189	32	c.556 others(51): Show c.556+15172_556+15173insGTGTATATATATATATATATATGTGT ATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003099	C C	CAGAAAGA others(25): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG03453.hp2 others(1): Show HG01192.hp1 HG01192.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0024 a0001c0001t0002 a0001c0001t0008 a0001c0001t0024	a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0008g0013 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0008g0013 a0001c0001t0024g0038	4	51	0.0784	32	c.235 others(51): Show c.235-55484_235-55483insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	21	0.0476	32	c.83- others(49): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331071	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0023 a0001c0002t0001g0020 a0001c0001t0009g0023 a0001c0002t0001g0020	2	40	0.0500	32	c.83- others(51): Show c.83-206169_83-206168insGTATATATATATATATATATATATAT ATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	20	0.0500	32	c.82+ others(51): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212373999	T T	TATATATA others(25): Show TATATATATCCATATATATATCCATATATATCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	56	0.0179	32	c.82+ others(51): Show c.82+164449_82+164450insGGATATATATGGATATATATATGGAT ATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(25): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20129.hp2 HG02735.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0048 a0001c0003t0006 a0001c0001t0048 a0001c0003t0006	a0001c0001t0048g0083 a0001c0003t0006g0114 a0001c0001t0048g0083 a0001c0003t0006g0114	2	74	0.0270	32	c.156 others(51): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTCTATCTGT GTCTCT	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(25): Show ATCTCTATCTCTATCTCTATCTGTGTCTCTATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(40): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01517.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02280.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18949.hp1 NA18949.hp2 NA18966.hp1 NA19030.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0019 a0001c0001t0025 a0001c0001t0031 a0001c0001t0038 a0001c0001t0049 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0075 a0001c0001t0086 a0001c0001t0089 a0001c0003t0002 a0002c0002t0001 a0002c0002t0013 a0002c0002t0023 a0002c0002t0024 a0002c0002t0033 a0002c0002t0034 a0002c0002t0058 a0002c0002t0074 a0002c0002t0079 a0004c0005t0004	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0031 others(40): Show a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0002g0045 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0034 a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0047 a0001c0001t0005g0160 a0001c0001t0007g0084 a0001c0001t0015g0023 a0001c0001t0015g0030 a0001c0001t0015g0038 a0001c0001t0019g0157 a0001c0001t0025g0061 a0001c0001t0031g0119 a0001c0001t0038g0150 a0001c0001t0049g0092 a0001c0001t0063g0060 a0001c0001t0064g0008 a0001c0001t0068g0003 a0001c0001t0070g0064 a0001c0001t0071g0014 a0001c0001t0072g0017 a0001c0001t0075g0001 a0001c0001t0086g0095 a0001c0001t0089g0002 a0001c0003t0002g0021 a0002c0002t0001g0046 a0002c0002t0013g0133 a0002c0002t0023g0057 a0002c0002t0023g0058 a0002c0002t0024g0148 a0002c0002t0033g0143 a0002c0002t0034g0158 a0002c0002t0058g0123 a0002c0002t0074g0107 a0002c0002t0079g0054 a0004c0005t0004g0055	43	115	0.3739	32	c.156 others(51): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTGTGTCTCT ATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTGT others(25): Show ATCTCTGTCTCTATCTCTATCTGTGTCTCTATC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	73	0.0137	32	c.156 others(51): Show c.1569+5647_1569+5648insCTGTCTCTATCTCTATCTGTGTCTCT ATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121723	A A	ATATCTCT others(25): Show ATATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0095 a0001c0001t0086g0095	1	157	0.0064	32	c.156 others(51): Show c.1569+5691_1569+5692insATCTCTATCTCTATCTCTATCTCTAT CTGTGT	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(25): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0061 a0001c0001t0025g0061	1	79	0.0127	32	c.156 others(51): Show c.1569+5711_1569+5712insCTATCTGTGTCTCTATCTCTATCTCT ATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121825	G G	GCCTATTG others(25): Show GCCTATTGATATATCTGTATATATCTATCTAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0073 a0002c0002t0073	a0002c0002t0073g0052 a0002c0002t0073g0052	1	111	0.0090	32	c.156 others(51): Show c.1569+5792_1569+5793insCCTATTGATATATCTGTATATATCTA TCTAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1121889	A A	ATCTCTAT others(25): Show ATCTCTATATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG01952.hp1 others(9): Show HG01243.hp2 HG01496.hp2 HG01952.hp1 HG02129.hp1 HG02280.hp1 HG02735.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp2 NA19030.hp2 NA19090.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0026 a0001c0001t0031 a0001c0001t0063 a0001c0001t0072 a0002c0002t0061	a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0004g0005 others(9): Show a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0005g0160 a0001c0001t0015g0023 a0001c0001t0015g0030 a0001c0001t0026g0027 a0001c0001t0031g0119 a0001c0001t0063g0060 a0001c0001t0072g0017 a0002c0002t0061g0025	12	125	0.0960	32	c.156 others(51): Show c.1569+5863_1569+5864insATCTCTATCTCTATCTCTATCTGTGT CTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122007	A A	ATCTGTGT others(25): Show ATCTGTGTCTCTATCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03225.hp1 HG01175.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0069 a0002c0002t0058 a0001c0001t0069 a0002c0002t0058	a0001c0001t0069g0006 a0002c0002t0058g0123 a0001c0001t0069g0006 a0002c0002t0058g0123	2	113	0.0177	32	c.156 others(51): Show c.1569+5977_1569+5978insGTGTCTCTATCTCTATCTCTATCTCT ATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122169	G G	GCCTATTG others(25): Show GCCTATTGATATATCTGTATATATCTATCTAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0085 a0001c0001t0042g0085	1	126	0.0079	32	c.156 others(51): Show c.1569+6136_1569+6137insCCTATTGATATATCTGTATATATCTA TCTAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122171	C C	CTATCTCT others(25): Show CTATCTCTATCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0142 a0002c0002t0062g0142	1	150	0.0067	32	c.156 others(51): Show c.1569+6139_1569+6140insATCTCTATCTCTATCTCTATCTCTAT CTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122409	G G	GCCTATTG others(25): Show GCCTATTGATATATCTGTATATATCTATCTAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0020 a0002c0007t0020	a0002c0007t0020g0071 a0002c0007t0020g0071	1	102	0.0098	32	c.156 others(51): Show c.1569+6376_1569+6377insCCTATTGATATATCTGTATATATCTA TCTAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122439	G G	GCCTATTG others(25): Show GCCTATTGATATATCTGTATATATCTATCTAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	110	0.0091	32	c.156 others(51): Show c.1569+6406_1569+6407insCCTATTGATATATCTGTATATATCTA TCTAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122480	T T	TGCCTATT others(25): Show TGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	158	0.0063	32	c.156 others(51): Show c.1569+6447_1569+6448insGCCTATTGATATATCTGTATATATCT ATCTAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TGCCTATT others(25): Show TGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03927.hp2 HG02818.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0070 a0002c0006t0041 a0001c0001t0070 a0002c0006t0041	a0001c0001t0070g0064 a0002c0006t0041g0081 a0001c0001t0070g0064 a0002c0006t0041g0081	2	43	0.0465	32	c.156 others(51): Show c.1569+6609_1569+6610insGCCTATTGATATATCTGTATATATCT ATCTAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1138229	G G	GTATAATA others(25): Show GTATAATATAATTACAATATATGATATATATTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01358.hp2 others(21): Show HG00639.hp2 HG01109.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0009 a0001c0001t0047 a0002c0002t0009 others(15): Show a0001c0001t0009 a0001c0001t0047 a0002c0002t0009 a0002c0002t0011 a0002c0002t0016 a0002c0002t0024 a0002c0002t0035 a0002c0002t0037 a0002c0002t0054 a0002c0002t0057 a0002c0002t0062 a0002c0002t0073 a0002c0002t0080 a0002c0002t0082 a0002c0002t0084 a0002c0002t0087 a0002c0002t0088 a0005c0010t0059	a0001c0001t0009g0078 a0001c0001t0047g0121 a0002c0002t0009g0149 others(21): Show a0001c0001t0009g0078 a0001c0001t0047g0121 a0002c0002t0009g0149 a0002c0002t0009g0152 a0002c0002t0011g0122 a0002c0002t0011g0124 a0002c0002t0011g0125 a0002c0002t0011g0128 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0016g0105 a0002c0002t0024g0043 a0002c0002t0035g0042 a0002c0002t0037g0151 a0002c0002t0054g0076 a0002c0002t0057g0127 a0002c0002t0062g0142 a0002c0002t0073g0052 a0002c0002t0080g0106 a0002c0002t0082g0065 a0002c0002t0084g0100 a0002c0002t0087g0096 a0002c0002t0088g0108 a0005c0010t0059g0126	24	159	0.1509	32	c.157 others(51): Show c.1570-3349_1570-3318dupATTACAATATATGATATATATTATAT AATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1463697	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0117 a0002c0002t0029g0117	1	63	0.0159	32	c.321 others(53): Show c.3213+18951_3213+18982dupGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55761957	C C	CCCCTCCC others(25): Show CCCCTCCCTCCCTCCCTTCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 HG03195.hp2 HG02647.hp2 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0013 a0001c0001t0001 a0001c0001t0002 a0001c0002t0013	a0001c0001t0001g0052 a0001c0001t0002g0054 a0001c0002t0013g0074 a0001c0001t0001g0052 a0001c0001t0002g0054 a0001c0002t0013g0074	3	72	0.0417	32	c.256 others(53): Show c.2565-27071_2565-27040dupAGAGAGAGAGAGAGGAAGGGAGGG AGGGAGGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56023774	T T	TGAAGGAA others(25): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 NA19043.hp2 HG01109.hp1 HG01346.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0003g0071 a0001c0001t0004g0022 a0001c0001t0001g0035 a0001c0001t0003g0071 a0001c0001t0004g0022	3	4	0.7500	32	c.164 others(51): Show c.1642-4775_1642-4744dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar

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