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
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTCCTT others(43): Show CCTTCCTTCCTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	244	0.0041	50	c.386 others(67): Show c.386-3649_386-3648insCCTTCCTCTTCCTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABAT_chr16_8669617_8789570	8737985	G G	GAAGAAAG others(43): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02148.hp2 HG03490.hp2 HG00280.hp2 HG02148.hp2 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0012 a0001c0001t0002 a0002c0002t0012	a0001c0001t0002g0280 a0001c0001t0002g0317 a0002c0002t0012g0158 a0001c0001t0002g0280 a0001c0001t0002g0317 a0002c0002t0012g0158	3	272	0.0110	50	c.70+ others(65): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737985	G G	GAAGAAAG others(43): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	270	0.0037	50	c.70+ others(65): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAGAAAGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	AATATATA others(43): Show AATATATATATATATATATATGTTATATATATATATATATATATGTTATA T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	210	0.0048	50	c.277 others(69): Show c.2770-2459_2770-2458insATATAACATATATATATATATATATA TAACATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	215134526	A A	ACGTATAT others(43): Show ACGTATATATGTACATATATACGTATATATACGCATATATGTACATATAT G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 NA19240.hp2 others(1): Show HG01243.hp1 HG02451.hp2 NA19240.hp2 NA20129.hp1	a0004 a0009 a0004 a0009	a0004c0018 a0004c0060 a0009c0028 a0004c0018 a0004c0060 a0009c0028	a0004c0018t0021 a0004c0060t0006 a0009c0028t0003 a0004c0018t0021 a0004c0060t0006 a0009c0028t0003	a0004c0018t0021g0082 a0004c0060t0006g0080 a0009c0028t0003g0081 others(1): Show a0004c0018t0021g0082 a0004c0060t0006g0080 a0009c0028t0003g0081 a0009c0028t0003g0083	4	187	0.0214	50	c.69+ others(65): Show c.69+3613_69+3614insCATATATGTACATATATGCGTATATATACG TATATATGTACATATATACG	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48411291	C C	CTTCTTTT others(43): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20805.hp2 NA20905.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp2	a0008 a0017 a0086 a0008 a0017 a0086	a0008c0013 a0017c0094 a0086c0037 a0008c0013 a0017c0094 a0086c0037	a0008c0013t0005 a0017c0094t0002 a0086c0037t0005 a0008c0013t0005 a0017c0094t0002 a0086c0037t0005	a0008c0013t0005g0045 a0017c0094t0002g0079 a0086c0037t0005g0096 a0008c0013t0005g0045 a0017c0094t0002g0079 a0086c0037t0005g0096	3	83	0.0361	50	c.122 others(69): Show c.12228+650_12228+651insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	237	0.0042	50	c.931 others(65): Show c.931-880_931-879insATATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	68979525	T T	TTTTTGAT others(43): Show TTTTTGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGTGGGAT C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03041.hp2 NA19043.hp1 others(1): Show HG00733.hp1 HG03041.hp2 NA19043.hp1 NA19240.hp1	a0008 a0010 a0008 a0010	a0008c0013 a0010c0011 a0008c0013 a0010c0011	a0008c0013t0003 a0010c0011t0003 a0008c0013t0003 a0010c0011t0003	a0008c0013t0003g0057 a0008c0013t0003g0058 a0010c0011t0003g0049 others(1): Show a0008c0013t0003g0057 a0008c0013t0003g0058 a0010c0011t0003g0049 a0010c0011t0003g0050	4	310	0.0129	50	c.472 others(69): Show c.4720+3036_4720+3037insGATCCCACCACTGCACTCCAGCCTGG CGACAGAGTGAGACTCCATCAAAA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	37/38			chr17	TogoVar
ABCB4_chr7_87396696_87480680	87468941	T T	TAAATAAA others(43): Show TAAATAAAATAAGACAAAATAAGATAAAATAAAATAAAATAAAATAAAAT A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG01884.hp1 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0251 a0001c0002t0001g0252	2	140	0.0143	50	c.135 others(67): Show c.135+3679_135+3680insTATTTTATTTTATTTTATTTTATTTTAT CTTATTTTGTCTTATTTTATTT	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	3/27			chr7	TogoVar
ABCB4_chr7_87396696_87480680	87468941	T T	TAAATAAA others(43): Show TAAATAAAATAAGATAAAATAAGATAAAATAAAATAAAATAAAATAAAAT A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp2 others(3): Show HG00140.hp2 HG00323.hp1 HG00735.hp2 HG01934.hp2 HG02683.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0005 a0001c0007 a0002c0005	a0001c0007t0001 a0002c0005t0001 a0001c0007t0001 a0002c0005t0001	a0001c0007t0001g0039 a0002c0005t0001g0052 a0002c0005t0001g0053 others(3): Show a0001c0007t0001g0039 a0002c0005t0001g0052 a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0001g0055 a0002c0005t0001g0056	6	144	0.0417	50	c.135 others(67): Show c.135+3679_135+3680insTATTTTATTTTATTTTATTTTATTTTAT CTTATTTTATCTTATTTTATTT	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	3/27			chr7	TogoVar
ABCB4_chr7_87396696_87480680	87468941	T T	TAAATAAA others(43): Show TAAATAAAATAAGATAAAATAAGATAAGATAAAATAAAATAAAATAAAAT A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0114 a0001c0029t0001g0114	1	139	0.0072	50	c.135 others(67): Show c.135+3679_135+3680insTATTTTATTTTATTTTATTTTATCTTAT CTTATTTTATCTTATTTTATTT	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	3/27			chr7	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0242 a0001c0005t0004g0242	1	104	0.0096	50	c.49- others(65): Show c.49-7977_49-7976insCTCTCTCTCTCTCTCTGTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0020 a0001c0008t0009g0020	1	104	0.0096	50	c.49- others(65): Show c.49-7977_49-7976insCTCTCTCTCTCTGTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99814525	A A	ATATACAC others(43): Show ATATACACATATACACACATATGTGTATATACACATATACACACATATGT G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0259 a0002c0003t0001g0259	1	200	0.0050	50	c.209 others(69): Show c.2094+1385_2094+1386insCACATATACACACATATGTGTATATA CACATATACACACATATGTGTATA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814568	C C	CACACATA others(43): Show CACACATATGTGTATATACACATATACACACATATGTGTATATACACATA T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	280	0.0036	50	c.209 others(69): Show c.2094+1429_2094+1430insTATGTGTATATACACATATACACACA TATGTGTATATACACATATACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838334	C C	CCCCCCCC others(43): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG02970.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp2	a0006 a0021 a0006 a0021	a0006c0010 a0021c0032 a0006c0010 a0021c0032	a0006c0010t0001 a0021c0032t0001 a0006c0010t0001 a0021c0032t0001	a0006c0010t0001g0010 a0006c0010t0001g0011 a0021c0032t0001g0129 a0006c0010t0001g0010 a0006c0010t0001g0011 a0021c0032t0001g0129	3	333	0.0090	50	c.361 others(69): Show c.3614+2051_3614+2052insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50674018	C C	CCTTCCTT others(43): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0003 a0008c0012t0003	a0008c0012t0003g0305 a0008c0012t0003g0305	1	197	0.0051	50	c.259 others(67): Show c.2599+360_2599+361insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCF3_chr3_184181199_184199005	184182193	A A	ATCTGCAT others(43): Show ATCTGCATGAAGGGGAAGGCCAAGTACAAGGCCAGCGAGAATGCCATCGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	50	c.-40 others(61): Show c.-4015_-4014insTCTGCATGAAGGGGAAGGCCAAGTACAAGGCCAG CGAGAATGCCATCGTG	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding		4005		chr3	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0252 a0003c0003t0003g0252	1	168	0.0060	50	c.842 others(65): Show c.842-199_842-198insTATATATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	168	0.0060	50	c.842 others(65): Show c.842-199_842-198insTATATATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(43): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG04204.hp1 HG02004.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0004 a0002c0002t0002 a0001c0005t0004 a0002c0002t0002	a0001c0005t0004g0137 a0002c0002t0002g0232 a0001c0005t0004g0137 a0002c0002t0002g0232	2	118	0.0169	50	c.-11 others(61): Show c.-1192_-1191insAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(43): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0110 a0003c0003t0001g0110	1	117	0.0085	50	c.-11 others(61): Show c.-1192_-1191insAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AGAAAGAA others(43): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 NA18964.hp2 NA20805.hp2 HG02155.hp2 NA18964.hp2 NA20805.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0004 a0010c0014 a0001c0001 a0002c0004 a0010c0014	a0001c0001t0001 a0002c0004t0002 a0010c0014t0003 a0001c0001t0001 a0002c0004t0002 a0010c0014t0003	a0001c0001t0001g0133 a0002c0004t0002g0282 a0010c0014t0003g0213 a0001c0001t0001g0133 a0002c0004t0002g0282 a0010c0014t0003g0213	3	199	0.0151	50	c.-11 others(61): Show c.-1149_-1148insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT T	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18962.hp1 HG00280.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0201 a0001c0002t0002g0160 a0001c0002t0002g0201	2	94	0.0213	50	c.422 others(65): Show c.422+943_422+944insAAAAAAAATATATATATATATATATATATA TATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD16B_chr20_63856498_63867988	63861059	G G	GGGAGGCG others(43): Show GGGAGGCGGGGTGCAGGGACTCACACCTGTAATCCCAACACTGTGGGAGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp2 NA18971.hp2 others(2): Show HG00438.hp2 HG00609.hp2 NA18971.hp2 NA19067.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	396	0.0126	50	c.-48 others(59): Show c.-482_-481insGGAGGCGGGGTGCAGGGACTCACACCTGTAATCCCA ACACTGTGGGAGGT	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding		438		chr20	TogoVar
ABHD3_chr18_21645901_21709774	21704716	C C	CGAGCGGG others(43): Show CGAGCGGGCGAGAGCGGGCGAGAGCGGGCGAGAGCGGGCGAGAGCGGGCG A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03471.hp1 NA19030.hp1 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0011 a0001c0001t0011 a0001c0003t0011	a0001c0001t0011g0289 a0001c0003t0011g0288 a0001c0001t0011g0289 a0001c0003t0011g0288	2	151	0.0132	50	c.-52 others(57): Show c.-52_-51insTCGCCCGCTCTCGCCCGCTCTCGCCCGCTCTCGCCCGC TCTCGCCCGCTC	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	1/9	52		chr18	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(43): Show GTATATATATATATATGTATATATATATATATATATATATATATATGTGT A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02080.hp1 NA19087.hp1 HG02056.hp2 HG02080.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0112 a0001c0001t0010g0076 a0001c0001t0010g0146 a0001c0001t0002g0112 a0001c0001t0010g0076 a0001c0001t0010g0146	3	86	0.0349	50	c.837 others(67): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATATATATGTGTAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(43): Show GTATATATATATATATGTATATATATATATATATATATATATGTGTATAT A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG04184.hp1 HG01071.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0145 a0001c0001t0002g0104 a0001c0001t0002g0145	2	85	0.0235	50	c.837 others(67): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATATGTGTATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(43): Show GTATATATATATATATGTGTATATATATATATATATATATATATGTGTAT A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	84	0.0119	50	c.837 others(67): Show c.837+1396_837+1397insATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286850	G G	GTATATAT others(43): Show GTATATATATATATGTATATATATATATATATATATATATATGTGTATAT A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	39	0.0256	50	c.837 others(67): Show c.837+1398_837+1399insATATATATATATGTATATATATATATAT ATATATATATATGTGTATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI2_chr2_203323394_203437169	203338951	T T	TATATATA others(43): Show TATATATAAATATATATATATATATATATAAATATATATATATATATATA A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	293	0.0034	50	c.117 others(69): Show c.117+10327_117+10328insAATATATATATATATATATATAAATA TATATATATATATATAAATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABLIM2_chr4_7960327_8163813	8091526	A A	ATATATAA others(43): Show ATATATAAAATTATATATAATATTTATAATTATATATATTATATATAATT T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0018 a0001c0002t0005g0018	1	318	0.0031	50	c.339 others(67): Show c.339-3292_339-3243dupAAATTATATATAATATATATAATTATAA ATATTATATATAATTTTATATA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ABR_chr17_998519_1184981	1054557	G G	GCACAAGG others(43): Show GCACAAGGAACCTGAGGGGATGGGGTCACAAGGAACCTGAGGGGATGGGG T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG03209.hp1 HG02280.hp2 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0011 a0001c0002t0091 a0001c0013t0018 a0001c0002t0011 a0001c0002t0091 a0001c0013t0018	a0001c0002t0011g0108 a0001c0002t0091g0337 a0001c0013t0018g0107 a0001c0002t0011g0108 a0001c0002t0091g0337 a0001c0013t0018g0107	3	332	0.0090	50	c.156 others(69): Show c.1561+1477_1561+1478insACCCCATCCCCTCAGGTTCCTTGTGA CCCCATCCCCTCAGGTTCCTTGTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ACACA_chr17_37079992_37411836	37290066	T T	TTTTTTTT others(43): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	298	0.0034	50	c.339 others(67): Show c.339-5097_339-5096insCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288627	C C	CCGTGTCT others(43): Show CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	273	0.0037	50	c.49 others(61): Show c.4936_*4937insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3763		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCGTGTCT others(43): Show CCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	272	0.0037	50	c.43 others(61): Show c.4376_*4377insACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3203		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289404	T T	TGCTCCGT others(43): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	277	0.0036	50	c.41 others(61): Show c.4159_*4160insGGACACGGGACGGAGCAGACACGGGACGGAGCAG GGACACGGGACGGAGC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2986		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289480	T T	TGCTCCGT others(43): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	281	0.0036	50	c.40 others(61): Show c.4083_*4084insGGACACGGGACGGAGCAGACACGGGACGGAGCAG GGACACGGGACGGAGC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2910		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289747	C C	CCGTGTCT others(43): Show CCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	275	0.0036	50	c.38 others(61): Show c.3816_*3817insACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2643		chr1	TogoVar
ACCS_chr11_44061270_44089237	44074750	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01168.hp1 HG02630.hp1 others(9): Show HG00544.hp1 HG01168.hp1 HG02630.hp1 HG02897.hp2 HG03453.hp1 HG03492.hp1 NA18973.hp1 NA19000.hp2 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19081.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0008 a0002c0003 a0003c0008	a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0003c0008t0002	a0002c0003t0001g0007 a0002c0003t0001g0070 a0002c0003t0001g0113 others(6): Show a0002c0003t0001g0007 a0002c0003t0001g0070 a0002c0003t0001g0113 a0002c0003t0001g0149 a0002c0003t0001g0162 a0002c0003t0002g0007 a0002c0003t0008g0007 a0002c0003t0008g0179 a0003c0008t0002g0205	12	246	0.0488	50	c.489 others(63): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(43): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0165 a0002c0002t0006g0165	1	282	0.0035	50	c.33+ others(67): Show c.33+13582_33+13583insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561953	G G	GGGCGGGG others(43): Show GGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03831.hp1 HG01261.hp2 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0094 a0002c0002t0004g0107 a0002c0002t0004g0094 a0002c0002t0004g0107	2	362	0.0055	50	c.33+ others(67): Show c.33+13614_33+13615insGGGGGGCCGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCAGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACP3_chr3_132312407_132363841	132314313	T T	TCCCTGCA others(43): Show TCCCTGCACACACTCTCTTGCCTGCTGCCATGTAAGATGTGCCTTTGCTT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	366	0.0027	50	c.-31 others(61): Show c.-3144_-3143insCCCTGCACACACTCTCTTGCCTGCTGCCATGTAA GATGTGCCTTTGCTTC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding		3093		chr3	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02129.hp2 HG02965.hp1 others(1): Show HG02040.hp1 HG02129.hp2 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0005 a0001c0004t0004 a0001c0005t0010 a0001c0002t0005 a0001c0004t0004 a0001c0005t0010	a0001c0002t0005g0054 a0001c0004t0004g0055 a0001c0005t0010g0141 others(1): Show a0001c0002t0005g0054 a0001c0004t0004g0055 a0001c0005t0010g0141 a0001c0005t0010g0144	4	167	0.0240	50	c.122 others(67): Show c.122-5285_122-5284insTTCTTTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(54): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00673.hp2 HG00741.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02976.hp2 HG04199.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18971.hp2 NA18981.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19003.hp2 NA19030.hp2 NA19054.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0018 a0002c0011 a0005c0016	a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 others(12): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 a0001c0002t0002 a0001c0002t0005 a0001c0002t0021 a0001c0002t0022 a0001c0004t0004 a0001c0004t0017 a0001c0004t0020 a0001c0005t0001 a0001c0005t0006 a0001c0018t0002 a0002c0011t0004 a0005c0016t0013	a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0192 others(52): Show a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0013g0247 a0001c0001t0015g0190 a0001c0002t0002g0148 a0001c0002t0002g0178 a0001c0002t0002g0181 a0001c0002t0002g0187 a0001c0002t0005g0042 a0001c0002t0005g0069 a0001c0002t0005g0070 a0001c0002t0005g0240 a0001c0002t0021g0158 a0001c0002t0021g0180 a0001c0002t0022g0179 a0001c0004t0004g0008 a0001c0004t0004g0046 a0001c0004t0004g0048 a0001c0004t0004g0067 a0001c0004t0004g0068 a0001c0004t0004g0071 a0001c0004t0004g0072 a0001c0004t0004g0073 a0001c0004t0004g0074 a0001c0004t0004g0076 a0001c0004t0004g0077 a0001c0004t0004g0078 a0001c0004t0004g0092 a0001c0004t0004g0093 a0001c0004t0004g0095 a0001c0004t0004g0097 a0001c0004t0004g0147 a0001c0004t0017g0146 a0001c0004t0017g0185 a0001c0004t0020g0268 a0001c0005t0001g0198 a0001c0005t0001g0199 a0001c0005t0001g0200 a0001c0005t0006g0135 a0001c0018t0002g0186 a0002c0011t0004g0075 a0005c0016t0013g0248	57	220	0.2591	50	c.122 others(67): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACR_chr22_50733204_50750339	50748159	T T	TCCTGCTC others(43): Show TCCTGCTCATAGTGACAGGAGAAATGGAAGAATGACCAGCTGTGTGACAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	462	0.0022	50	c.29 others(61): Show c.2952_*2953insCCTGCTCATAGTGACAGGAGAAATGGAAGAATGA CCAGCTGTGTGACAAA	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		2821		chr22	TogoVar
ACR_chr22_50733204_50750339	50748963	T T	TCCCAGGG others(43): Show TCCCAGGGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTGGACA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	461	0.0022	50	c.37 others(61): Show c.3756_*3757insCCCAGGGGTGTGCCCACCTAGACAACCGAGGGGT GTGCCCACCTGGACAA	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3625		chr22	TogoVar
ACSF3_chr16_89088852_89161233	89147422	T T	TCACAGAG others(43): Show TCACAGAGTGAGCAAGGGGGGGAGGGGCCACAGAGTGAGCGGGGGAGGGG C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	362	0.0028	50	c.161 others(69): Show c.1613+1384_1613+1385insCAAGGGGGGGAGGGGCCACAGAGTGA GCGGGGGAGGGGCCACAGAGTGAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89147452	T T	TCACAGAG others(43): Show TCACAGAGTGAGCAAGGGGGGGAGGGGCCACAGAGTGAGCGGGGGAGGGG C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	351	0.0028	50	c.161 others(69): Show c.1613+1414_1613+1415insCAAGGGGGGGAGGGGCCACAGAGTGA GCGGGGGAGGGGCCACAGAGTGAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	148	0.0068	50	c.159 others(67): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

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