Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ENOSF1_chr18_665318_717630	672279	T T	TAAAAGTT others(40): Show TAAAAGTTACTCCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0294 a0001c0003t0030g0294	1	418	0.0024	47	c.20 others(58): Show c.2025_*2026insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT AGGAGTAACTTTT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	16/16	2025		chr18	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGAAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	412	0.0024	47	c.120 others(64): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTTCCTGGGA CCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(135): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0026 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0004t0001 a0001c0026t0001 a0003c0005t0001 a0003c0005t0016	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0005g0099 a0001c0001t0009g0050 a0001c0001t0009g0222 a0001c0001t0012g0065 a0001c0001t0017g0078 a0001c0002t0001g0167 a0001c0004t0001g0097 a0001c0026t0001g0127 a0003c0005t0001g0081 a0003c0005t0001g0082 a0003c0005t0001g0083 a0003c0005t0001g0084 a0003c0005t0001g0089 a0003c0005t0016g0070	138	412	0.3350	47	c.120 others(64): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	412	0.0024	47	c.120 others(64): Show c.1209-482_1209-436dupGGCAAACCCCACCCCTTGCTCCCTGGAA CCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403393	A A	AGGGAGCA others(40): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	412	0.0024	47	c.120 others(64): Show c.1209-553_1209-507dupAGGAACCCTGTCCCTTTCTTCCCCGGCA AACCCCACCCCTTGCTCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403464	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	412	0.0024	47	c.120 others(64): Show c.1209-578_1209-577insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(40): Show CACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	312	0.0032	47	c.-8+ others(64): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPHA8_chr1_22558489_22608595	22599873	G G	GAAGGAAG others(40): Show GAAGGAAGGAGGGAAAGGAGAAAGGAGGGAAGGAAGGAGAAAGAAGGA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0000 a0000	a0000c0041 a0000c0041	a0000c0041t0001 a0000c0041t0001	a0000c0041t0001g0031 a0000c0041t0001g0031	1	342	0.0029	47	c.238 others(64): Show c.2389-787_2389-786insAGGAAGGAGGGAAAGGAGAAAGGAGGGA AGGAAGGAGAAAGAAGGAA	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22820267	T T	TGGTTCCC others(40): Show TGGTTCCCCTGAAAGCCAGAGAGCAACAGGAGTGACAGCTTTCATGGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	248	0.0040	47	c.811 others(66): Show c.811+35193_811+35239dupGTTCCCCTGAAAGCCAGAGAGCAACA GGAGTGACAGCTTTCATGGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB6_chr7_142850076_142876093	142874129	T T	TCGCCAAA others(40): Show TCGCCAAAAATCATCTAGAAGGAGCAGGAGGCAGAGAACATCTGCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	311	0.0032	47	c.32 others(58): Show c.3225_*3226insCGCCAAAAATCATCTAGAAGGAGCAGGAGGCAGA GAACATCTGCACA	EPHB6	ENSG00000106123.12	transcript	ENST00000652003.1	protein_coding		3037		chr7	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(40): Show CCCGCACCCGCCCGCACCCGCCGCACCCGCCCGCACCCGCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG03225.hp2 others(1): Show HG02818.hp2 HG03098.hp2 HG03225.hp2 HG03486.hp1	a0056 a0057 a0058 others(1): Show a0056 a0057 a0058 a0060	a0056c0158 a0057c0153 a0058c0155 others(1): Show a0056c0158 a0057c0153 a0058c0155 a0060c0154	a0056c0158t0001 a0057c0153t0001 a0058c0155t0001 others(1): Show a0056c0158t0001 a0057c0153t0001 a0058c0155t0001 a0060c0154t0001	a0056c0158t0001g0048 a0057c0153t0001g0049 a0058c0155t0001g0047 others(1): Show a0056c0158t0001g0048 a0057c0153t0001g0049 a0058c0155t0001g0047 a0060c0154t0001g0046	4	424	0.0094	47	c.-46 others(60): Show c.-46+42_-46+43insCGGGTGCGGCGGGTGCGGGCGGGTGCGGCGGG TGCGGGCGGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(40): Show CCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp1 HG03579.hp1 HG02809.hp1 HG03453.hp1 HG03579.hp1	a0024 a0063 a0024 a0063	a0024c0029 a0063c0159 a0024c0029 a0063c0159	a0024c0029t0001 a0063c0159t0004 a0024c0029t0001 a0063c0159t0004	a0024c0029t0001g0007 a0063c0159t0004g0059 a0024c0029t0001g0007 a0063c0159t0004g0059	3	424	0.0071	47	c.-46 others(60): Show c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG GTGCGGCGGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
ERBB4_chr2_211370717_212543802	212373950	T T	TATCCATA others(40): Show TATCCATATATATCCATAAATATATCCATATATATCCATATATATCCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03239.hp2 HG03453.hp1 HG01175.hp2 HG03239.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0005 a0002c0003t0001 a0001c0001t0004 a0001c0001t0005 a0002c0003t0001	a0001c0001t0004g0003 a0001c0001t0005g0015 a0002c0003t0001g0014 a0001c0001t0004g0003 a0001c0001t0005g0015 a0002c0003t0001g0014	3	56	0.0536	47	c.82+ others(66): Show c.82+164498_82+164499insTGGATATATATGGATATATATGGATA TATTTATGGATATATATGGAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018466	A A	ATATATAT others(40): Show ATATATATTATATATTATATATTATATATTATATTATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0288 a0001c0002t0002g0288	1	306	0.0033	47	c.534 others(64): Show c.534-2830_534-2829insATTATATTATATAATATATATTATATAT TATATATTATATATTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATTA others(40): Show TTATATTATATAATATATAATATATATTATATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	306	0.0033	47	c.534 others(64): Show c.534-2844_534-2843insTATATAATATATAATATATATTATATAA TATATATTATATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018480	T T	TTATATAT others(40): Show TTATATATTATATATTATATTATATAATATATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0250 a0001c0002t0002g0250	1	306	0.0033	47	c.534 others(64): Show c.534-2830_534-2829insATTATATTATATAATATATATTATATAT TATATAATATATATTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(40): Show CATATATATATATATATATATGCCTTATATATATATGCATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	74	0.0135	47	c.256 others(68): Show c.2565-64533_2565-64532insATATATATATGCATATATATATAA GGCATATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(40): Show CATATATATATATATATATGCCTTATATATATATGCATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03098.hp2 HG01071.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0069 a0001c0002t0002g0016 a0001c0001t0003g0069 a0001c0002t0002g0016	2	74	0.0270	47	c.256 others(68): Show c.2565-64533_2565-64532insATATATATATATGCATATATATAT AAGGCATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERFL_chr19_41902704_41933449	41923902	A A	AGGGGCTG others(40): Show AGGGGCTGTGCTGGGGGTGTGTGTGGGGAGGTAGGGGTATGCTGGGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18954.hp2 HG02135.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0220 a0001c0001t0003g0221	2	330	0.0061	47	c.-14 others(64): Show c.-14+4091_-14+4137dupCTCCCAGCATACCCCTACCTCCCCACAC ACACCCCCAGCACAGCCCC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04184.hp2 HG01175.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0116 a0001c0001t0020g0078 a0001c0001t0001g0116 a0001c0001t0020g0078	2	334	0.0060	47	c.156 others(64): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG GGAGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	334	0.0030	47	c.156 others(64): Show c.156-1325_156-1324insGGGAGGGGGGGGAGAGAGGGGAGGGGGG GGAGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGAGGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp1 HG00673.hp2 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0227 a0001c0001t0002g0010 a0001c0001t0001g0227 a0001c0001t0002g0010	2	334	0.0060	47	c.156 others(64): Show c.156-1325_156-1324insGGGAGGGGGGGGGAGAGAGGGGAGGGGG GGAGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGAGGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	334	0.0030	47	c.156 others(64): Show c.156-1325_156-1324insGGGAGGGGGGGGGGAGAGAGGGGAGGGG GGGAGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	334	0.0030	47	c.156 others(64): Show c.156-1332_156-1331insGAAGGGGGGGGGAGGGGGGGGAGAGAGG GGAGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	334	0.0030	47	c.156 others(64): Show c.156-1332_156-1331insGAGGGGGGGAGGGGGGGGGGAGAGAGGG GAGGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	334	0.0030	47	c.156 others(64): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGAGAGAGGGG AGGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	334	0.0030	47	c.156 others(64): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGAGAGAGGG GAGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(40): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	334	0.0030	47	c.156 others(64): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGGAGAGAGG GGAGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGAGGGG others(40): Show GGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	334	0.0030	47	c.156 others(64): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGGAGGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGAGGGG others(40): Show GGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	334	0.0030	47	c.156 others(64): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GGAGGGGG others(40): Show GGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0183 a0001c0001t0006g0183	1	334	0.0030	47	c.156 others(64): Show c.156-1322_156-1321insAGGGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGGAGGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(40): Show TATATATATATAAATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	340	0.0029	47	c.212 others(64): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATATATTTATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	659338	A A	AGGGGGTG others(40): Show AGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	378	0.0027	47	c.52 others(58): Show c.5264_*5265insCTCCCCAGGATGGTCAGTGCACACCGGAGATCTC GATGGTCACCCCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4861		chr8	TogoVar
ERICH1_chr8_659200_736224	659384	A A	AGGGGGTG others(40): Show AGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0331 a0001c0001t0002g0331	1	378	0.0027	47	c.52 others(58): Show c.5218_*5219insCTCCCCAGGATGGTCAGTGCACACCGGAGATCTC GATGGTCACCCCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4815		chr8	TogoVar
ERVV-1_chr19_53008921_53021123	53013952	A A	AATTCGGG others(40): Show AATTCGGGGAATCTTGGTTGCGGTGGCATCGGTTCTTCTCTAATTTTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0007 a0006c0017t0007	a0006c0017t0007g0000 a0006c0017t0007g0000	1	404	0.0025	47	c.-13 others(56): Show c.-139_-138insATTCGGGGAATCTTGGTTGCGGTGGCATCGGTTCTT CTCTAATTTTG	ERVV-1	ENSG00000269526.2	transcript	ENST00000602168.2	protein_coding	1/1	138		chr19	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(40): Show GATATATATATTTTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01261.hp2 HG01943.hp1 others(2): Show HG00673.hp2 HG01261.hp2 HG01943.hp1 NA18950.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0061 a0002c0002t0002g0085 others(2): Show a0002c0002t0002g0049 a0002c0002t0002g0061 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0097	5	378	0.0132	47	c.701 others(62): Show c.701+321_701+322insATATATATATATATATATATATATATATAT ATATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(40): Show GATATATATATTTTTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0289 a0002c0002t0002g0289	1	378	0.0027	47	c.701 others(62): Show c.701+321_701+322insATATATATATATATATATATATATATATAT ATAAAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
EXOC2_chr6_480154_698139	501373	A A	ATATTATA others(40): Show ATATTATATATATCTATATATATTATATATATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	272	0.0037	47	c.238 others(66): Show c.2381-1674_2381-1673insGATATATATAATATATATATATATAA TATATATAGATATATATAATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501373	A A	ATATTATA others(40): Show ATATTATATATATCTATATATTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0175 a0001c0002t0008g0175	1	272	0.0037	47	c.238 others(66): Show c.2381-1674_2381-1673insGATATATATAATATATAGATATATAT AATATATAGATATATATAATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501375	A A	ATTATATA others(40): Show ATTATATATATCTATATATATTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	272	0.0037	47	c.238 others(66): Show c.2381-1676_2381-1675insGATATATATAATATATAGATATATAT AATATATATAGATATATATAA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501375	A A	ATTATATA others(40): Show ATTATATATATCTATATATTATATATATCTATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp2 HG02257.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0227 a0001c0001t0002g0228	2	272	0.0074	47	c.238 others(66): Show c.2381-1676_2381-1675insGATATATATAATATATATAGATATAT ATAATATATAGATATATATAA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519378	A A	ACCGAGCG others(40): Show ACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAACCAACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0158 a0001c0003t0002g0158	1	272	0.0037	47	c.238 others(68): Show c.2380+13090_2380+13091insGTGTTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTAGGCGCTCGG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	392	0.0026	47	c.-68 others(66): Show c.-68-15034_-68-15033insAAAAATATATATATATATATATATAT ATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	392	0.0026	47	c.-68 others(66): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATATAT ATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
F10_chr13_113117799_113154529	113154227	G G	GGCGGGGC others(40): Show GGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	412	0.0024	47	c.47 others(58): Show c.4710_*4711insGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGC AGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4699		chr13	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18992.hp1 NA18989.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0028 a0001c0001t0013 a0001c0001t0028	a0001c0001t0013g0183 a0001c0001t0028g0182 a0001c0001t0013g0183 a0001c0001t0028g0182	2	300	0.0067	47	c.-51 others(68): Show c.-512+12118_-512+12119insATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTT	FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(40): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02922.hp1 HG02976.hp1 others(3): Show HG02071.hp1 HG02922.hp1 HG02976.hp1 HG03453.hp2 NA18950.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0001g0161 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249	6	346	0.0173	47	c.-76 others(64): Show c.-76-2750_-76-2704dupGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM149A_chr4_186099704_186180337	186137019	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0031 a0031	a0031c0032 a0031c0032	a0031c0032t0004 a0031c0032t0004	a0031c0032t0004g0334 a0031c0032t0004g0334	1	390	0.0026	47	c.567 others(66): Show c.567-12154_567-12153insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTC	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13			chr4	TogoVar
FAM168A_chr11_73395487_73603112	73511550	A A	ATGTAATG others(40): Show ATGTAATGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0062 a0001c0001t0022g0062	1	180	0.0056	47	c.-18 others(66): Show c.-18-43059_-18-43058insCTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAATTCATTACA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	332	0.0030	47	c.650 others(66): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCCTTCTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar

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