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
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0054 a0002c0002t0003g0054	1	70	0.0143	46	c.236 others(65): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
ABAT_chr16_8669617_8789570	8737981	G G	GAAGAAAG others(39): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	344	0.0029	46	c.70+ others(61): Show c.70+2175_70+2176insAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAG	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(39): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0019 a0002c0004t0001g0019	1	270	0.0037	46	c.70+ others(61): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAG	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(39): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	270	0.0037	46	c.70+ others(61): Show c.70+2179_70+2180insAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAAAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69162840	T T	TATACATA others(39): Show TATACATATACATATACATATACATATACATATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(3): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02717.hp2 HG03471.hp1 NA19043.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0332 others(2): Show a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0332 a0007c0008t0007g0334 a0007c0008t0007g0335	6	278	0.0216	46	c.336 others(65): Show c.3363+1233_3363+1234insGTATATGTATATGTATATGTATATGT ATATGTATATGTATATGTAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177969	A A	AATATATA others(39): Show AATATATATATATATATATATGTTATATATATATATATATATATGTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	315	0.0032	46	c.277 others(65): Show c.2770-2457_2770-2456insAACATATATATATATATATATATAAC ATATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177970	A A	ATATATAT others(39): Show ATATATATATATATATATATATGTTATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01978.hp1 HG02148.hp1 others(2): Show HG01952.hp1 HG01978.hp1 HG02148.hp1 HG02273.hp2 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0145 a0002c0002t0001g0266 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0145 a0002c0002t0001g0266 a0002c0002t0001g0267	5	336	0.0149	46	c.277 others(65): Show c.2770-2458_2770-2457insACATATATATATATATATATATAACA TATATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177971	A A	AATATATA others(39): Show AATATATATATATATATATGTTATATATATATATATATATATGTTAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	210	0.0048	46	c.277 others(65): Show c.2770-2459_2770-2458insATAACATATATATATATATATATATA ACATATATATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69177972	A A	ATATATAT others(39): Show ATATATATATATATATATATGTTATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02965.hp2 HG02559.hp2 HG02647.hp2 HG02965.hp2	a0005 a0005	a0005c0013 a0005c0014 a0005c0013 a0005c0014	a0005c0013t0001 a0005c0014t0001 a0005c0013t0001 a0005c0014t0001	a0005c0013t0001g0042 a0005c0013t0001g0052 a0005c0014t0001g0142 a0005c0013t0001g0042 a0005c0013t0001g0052 a0005c0014t0001g0142	3	327	0.0092	46	c.277 others(65): Show c.2770-2460_2770-2459insACATATATATATATATATATATATAA CATATATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862689	C C	CCCCACCC others(39): Show CCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0281 a0006c0012t0002g0281	1	205	0.0049	46	c.422 others(61): Show c.422-890_422-889insTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862701	G G	GGCCGGGC others(39): Show GGCCGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCAGGGCCGGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0008 a0008	a0008c0047 a0008c0047	a0008c0047t0002 a0008c0047t0002	a0008c0047t0002g0300 a0008c0047t0002g0300	1	90	0.0111	46	c.422 others(61): Show c.422-902_422-901insGCCGGCCCTGCCCTGCCCTGCCCTGCCCTG CCCTGCCCTGCCCGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02055.hp1 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0027 a0001c0004t0014 a0001c0004t0027	a0001c0004t0014g0321 a0001c0004t0027g0319 a0001c0004t0014g0321 a0001c0004t0027g0319	2	18	0.1111	46	c.331 others(65): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69328224	T T	TGATGATT others(39): Show TGATGATTAAAACAGCGGTCCCCAACCTTTTGGGCACCAGGGACCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0199 a0004c0005t0003g0199	1	348	0.0029	46	c.-11 others(57): Show c.-1189_-1188insCTGGTCCCTGGTGCCCAAAAGGTTGGGGACCGCT GTTTTAATCATC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding		1092		chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18973.hp2 NA19084.hp1 HG03139.hp2 NA18973.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0170 a0002c0002t0002g0233 a0002c0002t0002g0234	3	46	0.0652	46	c.393 others(63): Show c.3937+131_3937+132insATATATATATATATATATATATATATAT ATATATATATATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18943.hp1 HG01928.hp2 NA18943.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0004 a0001c0006t0002 a0001c0005t0004 a0001c0006t0002	a0001c0005t0004g0131 a0001c0006t0002g0075 a0001c0005t0004g0131 a0001c0006t0002g0075	2	105	0.0190	46	c.49- others(61): Show c.49-7977_49-7976insCTCTCTCTCTCTCTCTGTCTCTTTCTTTCT TTCTTTCTTTCTTTCT	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(39): Show CTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp2 HG02451.hp1 HG01934.hp1 HG01934.hp2 HG02451.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0016 a0001c0001 a0001c0003 a0007c0016	a0001c0001t0001 a0001c0003t0004 a0007c0016t0006 a0001c0001t0001 a0001c0003t0004 a0007c0016t0006	a0001c0001t0001g0134 a0001c0003t0004g0056 a0007c0016t0006g0088 a0001c0001t0001g0134 a0001c0003t0004g0056 a0007c0016t0006g0088	3	106	0.0283	46	c.49- others(61): Show c.49-7977_49-7976insCTCTCTCTCTCTGTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	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(39): Show CTCTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0053 a0001c0006t0002g0053	1	104	0.0096	46	c.49- others(61): Show c.49-7977_49-7976insCTCTGTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC4_chr13_95014835_95306451	95126732	T T	TATATATA others(39): Show TATATATATATATTCCAAAATATATATATATATATATATATTCCAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0003 a0001c0068t0003	a0001c0068t0003g0007 a0001c0068t0003g0007	1	238	0.0042	46	c.245 others(67): Show c.2456-10732_2456-10731insTTTGGAATATATATATATATATAT ATATTTTGGAATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABCF3_chr3_184181199_184199005	184191739	G G	GTTCCTTT others(39): Show GTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	321	0.0031	46	c.156 others(63): Show c.1569+486_1569+487insCCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(39): Show GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	214	0.0093	46	c.842 others(61): Show c.842-175_842-174insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0171	1	168	0.0060	46	c.842 others(61): Show c.842-199_842-198insTATATATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0262 a0003c0003t0003g0262	1	168	0.0060	46	c.842 others(61): Show c.842-199_842-198insTATATATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	168	0.0060	46	c.842 others(61): Show c.842-199_842-198insTATATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	168	0.0060	46	c.842 others(61): Show c.842-199_842-198insTATATATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	168	0.0060	46	c.842 others(61): Show c.842-199_842-198insTATATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABHD12B_chr14_50867053_50909970	50870941	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0015 a0002c0004t0002g0015	1	365	0.0027	46	c.-12 others(57): Show c.-1234_-1233insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1111		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870945	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02083.hp2 NA18612.hp1 others(1): Show HG02004.hp2 HG02083.hp2 NA18612.hp1 NA18946.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0008	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0005c0008t0002	a0001c0001t0001g0236 a0002c0002t0002g0258 a0003c0003t0001g0254 others(1): Show a0001c0001t0001g0236 a0002c0002t0002g0258 a0003c0003t0001g0254 a0005c0008t0002g0285	4	365	0.0110	46	c.-12 others(57): Show c.-1230_-1229insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1107		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0118 a0001c0001t0001g0119	2	118	0.0169	46	c.-11 others(57): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(39): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	117	0.0085	46	c.-11 others(57): Show c.-1192_-1191insAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAGAAAGA others(39): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0010 a0005c0008t0002g0010	1	117	0.0085	46	c.-11 others(57): Show c.-1192_-1191insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AGAAAGAA others(39): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 NA19004.hp2 HG03239.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0079 a0002c0002t0002g0086 a0001c0001t0001g0079 a0002c0002t0002g0086	2	198	0.0101	46	c.-11 others(57): Show c.-1149_-1148insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AGAGAGAA others(39): Show AGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	197	0.0051	46	c.-11 others(57): Show c.-1149_-1148insGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG04228.hp2 HG01243.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0175 a0001c0002t0002g0149 a0001c0002t0002g0175	2	94	0.0213	46	c.422 others(61): Show c.422+943_422+944insAAAAAAAATATATATATATATATATATATA TATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	93	0.0108	46	c.422 others(61): Show c.422+943_422+944insAAAAAAAAAATATATATATATATATATATA TATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(39): Show GTATATATATATATATATGTATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	84	0.0119	46	c.837 others(63): Show c.837+1396_837+1397insATATATATATATATATGTATATATATAT ATATATATATATGTGTAT	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(39): Show GTATATATATATATATGTATATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00609.hp2 others(27): Show HG00099.hp2 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG02027.hp1 HG02080.hp2 HG02083.hp2 HG02602.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 NA18747.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18997.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 a0003c0003t0002	a0001c0001t0002g0004 a0001c0001t0002g0074 a0001c0001t0002g0075 others(26): Show a0001c0001t0002g0004 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0167 a0001c0001t0009g0036 a0001c0001t0014g0085 a0003c0003t0002g0150	30	113	0.2655	46	c.837 others(63): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATATGTGTAT	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(39): Show GTATATATATATATATGTATATATATATATATATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	84	0.0119	46	c.837 others(63): Show c.837+1396_837+1397insATATATATATATATGTATATATATATAT ATATATATATGTGTGTAT	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(39): Show GTATATATATATATATGTGTATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19012.hp2 NA19010.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0002g0110 a0001c0001t0002g0118	2	85	0.0235	46	c.837 others(63): Show c.837+1396_837+1397insATATATATATATATGTGTATATATATAT ATATATATATATGTGTAT	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(39): Show GTATATATATATATGTATATATATATATATATATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	84	0.0119	46	c.837 others(63): Show c.837+1396_837+1397insATATATATATATGTATATATATATATAT ATATATATATGTGTATAT	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(39): Show GTATATATATATATATGTATATATATATATATATATATATGTGTATA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	39	0.0256	46	c.837 others(63): Show c.837+1398_837+1399insATATATATATATATGTATATATATATAT ATATATATATGTGTATAT	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(39): Show GTATATATATATATGTATATATATATATATATATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	39	0.0256	46	c.837 others(63): Show c.837+1398_837+1399insATATATATATATGTATATATATATATAT ATATATATATGTGTATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI2_chr2_203323394_203437169	203338983	A A	AATATATA others(39): Show AATATATATATATATATATAAATATATATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	19	0.0526	46	c.117 others(65): Show c.117+10371_117+10372insAATATATATATATATATAAATATATA TATATATATATATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABLIM2_chr4_7960327_8163813	8091834	A A	ATAATATA others(39): Show ATAATATATTATATACAATATATTATATATAATATAATATATTATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01123.hp1 others(2): Show HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01975.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0027	a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0002g0006 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0002g0006 a0001c0001t0005g0052 a0001c0001t0027g0317	5	284	0.0176	46	c.339 others(63): Show c.339-3551_339-3550insATATAATATATTATATTATATATAATAT ATTGTATATAATATATTA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ABR_chr17_998519_1184981	1064152	A A	ACTGTTGT others(39): Show ACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG06807.hp1 HG02622.hp2 HG02965.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0012 a0001c0002t0038 a0001c0004t0037 a0001c0002t0012 a0001c0002t0038 a0001c0004t0037	a0001c0002t0012g0245 a0001c0002t0038g0012 a0001c0004t0037g0016 a0001c0002t0012g0245 a0001c0002t0038g0012 a0001c0004t0037g0016	3	335	0.0090	46	c.118 others(65): Show c.1182+2924_1182+2925insCAGTGTCTAGAGGAACATGCATAGCC CTCAGTTCACGTAACAACAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACCS_chr11_44061270_44089237	44074750	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0159 a0012c0016t0001g0159	1	235	0.0043	46	c.489 others(59): Show c.489+94_489+95insCTTTCTTTCTTTCTTCCTTTCTCTTTCTTTCT TTCTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074750	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp2 HG01433.hp1 others(7): Show HG00558.hp1 HG01123.hp2 HG01433.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 NA18945.hp2 NA18992.hp2 NA18997.hp2 NA19074.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0008 a0002c0003 a0003c0008	a0002c0003t0001 a0003c0008t0001 a0002c0003t0001 a0003c0008t0001	a0002c0003t0001g0022 a0002c0003t0001g0026 a0002c0003t0001g0111 others(2): Show a0002c0003t0001g0022 a0002c0003t0001g0026 a0002c0003t0001g0111 a0002c0003t0001g0170 a0003c0008t0001g0057	10	244	0.0410	46	c.489 others(59): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TATATATT others(39): Show TATATATTATATATATATACATATATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0210 a0001c0001t0014g0210	1	277	0.0036	46	c.497 others(63): Show c.497+7165_497+7166insTATATATATATACATATATATATATATT ATATATATATACATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0145 a0001c0005t0010g0145	1	164	0.0061	46	c.122 others(63): Show c.122-5285_122-5284insTTCTTTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	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(39): Show CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00639.hp1 others(23): Show HG00099.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG01081.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02155.hp1 HG02273.hp1 HG02280.hp2 HG02615.hp2 HG03225.hp1 HG03453.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 NA18946.hp1 NA18951.hp1 NA18988.hp2 NA18989.hp2 NA18995.hp2 NA19003.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0015 a0001c0002t0005 others(5): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0005 a0001c0002t0027 a0001c0004t0004 a0001c0004t0017 a0001c0005t0001 a0001c0010t0004	a0001c0001t0001g0043 a0001c0001t0001g0292 a0001c0001t0001g0294 others(23): Show a0001c0001t0001g0043 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0337 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0375 a0001c0001t0015g0123 a0001c0002t0005g0080 a0001c0002t0005g0094 a0001c0002t0027g0177 a0001c0004t0004g0079 a0001c0004t0004g0081 a0001c0004t0017g0188 a0001c0005t0001g0202 a0001c0010t0004g0344	26	189	0.1376	46	c.122 others(63): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	27	0.0370	46	c.159 others(63): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

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