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
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0165 a0001c0002t0012g0165	1	174	0.0057	23	c.278 others(40): Show c.278-1287_278-1286insATATATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18952.hp1 HG02818.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0012 a0001c0001t0003 a0001c0002t0012	a0001c0001t0003g0035 a0001c0002t0012g0166 a0001c0001t0003g0035 a0001c0002t0012g0166	2	175	0.0114	23	c.278 others(40): Show c.278-1287_278-1286insAAATATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0202 a0001c0002t0012g0202	1	174	0.0057	23	c.278 others(40): Show c.278-1287_278-1286insAAAAATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A11_chr4_138159097_138247349	138237738	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0240 a0001c0001t0073g0240	1	338	0.0030	23	c.278 others(40): Show c.278-1288_278-1287insTATATATATATATATATATATAT	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A14_chr3_170454548_170591075	170550512	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0303 a0001c0002t0046g0303	1	86	0.0116	23	c.-15 others(44): Show c.-152-23447_-152-23425dupAAAAAAAAAAAAAAAAAAAAAAA	SLC7A14	ENSG00000013293.6	transcript	ENST00000231706.6	protein_coding	1/7			chr3	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19088.hp2 NA19009.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0291 a0001c0001t0001g0277 a0001c0001t0001g0291	2	31	0.0645	23	c.-11 others(42): Show c.-114-1520_-114-1498dupTTTTTTTTTTTTTTTTTTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87872945	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0042 a0001c0002t0010g0042	1	379	0.0026	23	c.-35 others(34): Show c.-3524_-3523insAGAGAGAGAGAGAAAGAAAGAAA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3439		chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87873028	T T	TTCTTTCT others(16): Show TTCTTTCTTTTCTTTCTGACAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02622.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0062 a0001c0001t0003 a0001c0001t0062	a0001c0001t0003g0357 a0001c0001t0062g0352 a0001c0001t0003g0357 a0001c0001t0062g0352	2	308	0.0065	23	c.-36 others(34): Show c.-3607_-3606insTCTTGTCAGAAAGAAAAGAAAGA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3522		chr16	TogoVar
SLC7A8_chr14_23120295_23188660	23186994	C C	CTTATCTG others(16): Show CTTATCTGCTCAGTGAGACCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0036 a0001c0001t0068g0036	1	390	0.0026	23	c.-41 others(34): Show c.-4103_-4081dupTGTGGGTCTCACTGAGCAGATAA	SLC7A8	ENSG00000092068.21	transcript	ENST00000316902.12	protein_coding		3335		chr14	TogoVar
SLC7A9_chr19_32825511_32874767	32844857	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02738.hp1 NA18955.hp2 others(1): Show HG02074.hp2 HG02738.hp1 NA18955.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0289 a0002c0003t0002g0039 a0002c0003t0002g0042 others(1): Show a0001c0001t0001g0289 a0002c0003t0002g0039 a0002c0003t0002g0042 a0002c0003t0002g0044	4	81	0.0494	23	c.978 others(38): Show c.978-929_978-907dupTTTTTTTTTTTTTTTTTTTTTTT	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	9/12			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40107279	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 NA19043.hp1 HG02970.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0159 a0001c0001t0167 a0001c0001t0159 a0001c0001t0167	a0001c0001t0159g0174 a0001c0001t0167g0175 a0001c0001t0159g0174 a0001c0001t0167g0175	2	21	0.0952	23	c.79 others(34): Show c.7973_*7974insTTTTTTTTTTTTTTTTTTTTTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	11/11	7973		chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40271228	G G	GTCCCCTC others(16): Show GTCCCCTCCCACTCCTCTCCCACC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0087 a0001c0001t0134g0087	1	234	0.0043	23	c.180 others(44): Show c.1809-92758_1809-92736dupGGTGGGAGAGGAGTGGGAGGGGA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A3_chr14_70039215_70193951	70192040	T T	TAATTATT others(16): Show TAATTATTAATAATAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0214 a0001c0001t0050g0214	1	255	0.0039	23	c.-37 others(34): Show c.-3725_-3724insTATTATTATTATTATTAATAATT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3090		chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192040	T T	TAATTATT others(16): Show TAATTATTATTAATAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG04228.hp2 NA18612.hp2 others(6): Show HG03654.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18947.hp2 NA18953.hp1 NA18986.hp2 NA19055.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0047 a0001c0001t0002g0042 a0001c0001t0002g0050 others(6): Show a0001c0001t0001g0047 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0065 a0001c0001t0002g0148 a0001c0001t0009g0043 a0001c0001t0012g0149 a0001c0003t0001g0024 a0001c0003t0006g0181	9	263	0.0342	23	c.-37 others(34): Show c.-3725_-3724insTATTATTATTATTAATAATAATT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3090		chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192040	T T	TAATTATT others(16): Show TAATTATTATTATTAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02818.hp2 HG03130.hp2 HG01069.hp1 HG02818.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0010 a0001c0001t0002 a0001c0001t0003 a0001c0002t0010	a0001c0001t0002g0227 a0001c0001t0003g0162 a0001c0002t0010g0075 a0001c0001t0002g0227 a0001c0001t0003g0162 a0001c0002t0010g0075	3	257	0.0117	23	c.-37 others(34): Show c.-3725_-3724insTATTATTATTAATAATAATAATT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3090		chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192043	T T	TAATTATT others(16): Show TAATTATTAATAATAATAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	209	0.0048	23	c.-37 others(34): Show c.-3728_-3727insTATTATTATTATTATTAATAATT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3093		chr14	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(16): Show ACAGACGCCCGAATCCTCACCCTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00642.hp2 others(11): Show HG00323.hp1 HG00642.hp1 HG00642.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01257.hp2 HG01358.hp1 HG02071.hp1 HG02148.hp1 HG02300.hp2 NA18990.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0027 others(1): Show a0001c0001 a0001c0003 a0001c0027 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0003t0008 a0001c0027t0007 a0002c0002t0002	a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 others(11): Show a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0113 a0001c0001t0004g0027 a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0003t0008g0112 a0001c0027t0007g0136 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0034	14	125	0.1120	23	c.212 others(42): Show c.212-15600_212-15599insCAGGGTGAGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507755	C C	CCACCCCA others(16): Show CCACCCCACAGACGCCCGAATCCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01261.hp1 HG02559.hp1 others(2): Show HG01169.hp2 HG01261.hp1 HG02559.hp1 HG02602.hp1 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0026 a0002c0002 a0001c0001 a0001c0026 a0002c0002	a0001c0001t0001 a0001c0026t0012 a0002c0002t0003 a0001c0001t0001 a0001c0026t0012 a0002c0002t0003	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0026t0012g0212 others(2): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0026t0012g0212 a0002c0002t0003g0211 a0002c0002t0003g0217	5	138	0.0362	23	c.212 others(42): Show c.212-15685_212-15684insAGGATTCGGGCGTCTGTGGGGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507808	A A	ACAGACGC others(16): Show ACAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	192	0.0052	23	c.212 others(42): Show c.212-15738_212-15737insCGGGGTGGGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507952	G G	GCCCGAAT others(16): Show GCCCGAATCCTCACCCCACAGACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	216	0.0046	23	c.212 others(42): Show c.212-15882_212-15881insTGTCTGTGGGGTGAGGATTCGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A5_chr16_67243979_67277191	67260354	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	113	0.0088	23	c.184 others(40): Show c.1842+409_1842+431dupAAAAAAAAAAAAAAAAAAAAAAA	SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC9A8_chr20_49807828_49897242	49884259	G G	GACACACA others(16): Show GACACACACGACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	331	0.0030	23	c.149 others(40): Show c.1491+201_1491+202insGACACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884274	G G	GACACACA others(16): Show GACACACACACACGACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02886.hp1 HG03516.hp2 HG01123.hp2 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0010 a0001c0003t0001 a0001c0003t0010	a0001c0003t0001g0160 a0001c0003t0001g0172 a0001c0003t0010g0165 a0001c0003t0001g0160 a0001c0003t0001g0172 a0001c0003t0010g0165	3	273	0.0110	23	c.149 others(40): Show c.1491+220_1491+221insGACACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884288	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	157	0.0064	23	c.149 others(40): Show c.1491+222_1491+223insACACACACACACACACACACACA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15			chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(16): Show GACACACACGACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0324 a0001c0001t0007g0325	2	158	0.0127	23	c.149 others(40): Show c.1491+231_1491+232insGACACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9B1_chr4_102895928_103024705	102905234	T T	TTTATTTA others(16): Show TTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	316	0.0032	23	c.133 others(40): Show c.1332+279_1332+280insTAAATAAATAAATAAATAAATAA	SLC9B1	ENSG00000164037.17	transcript	ENST00000296422.12	protein_coding	11/11			chr4	TogoVar
SLC9C1_chr3_112135898_112299216	112295698	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 NA18966.hp1 HG01934.hp1 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0287 a0002c0001t0001g0305 a0002c0001t0001g0287 a0002c0001t0001g0305	2	369	0.0054	23	c.-16 others(34): Show c.-1694_-1693insATATATATATATATATATATATA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding		1483		chr3	TogoVar
SLCO1B1_chr12_21126194_21244796	21152533	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	52	0.0192	23	c.84+ others(40): Show c.84+10893_84+10894insTTTTTTTTTTTTTTTTTTTTTTT	SLCO1B1	ENSG00000134538.3	transcript	ENST00000256958.3	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01070.hp1 others(10): Show HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01256.hp2 HG02132.hp2 HG02922.hp1 HG03471.hp2 HG04115.hp2 HG04199.hp2 NA18980.hp1 NA18986.hp2 NA18991.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0039 a0001c0001t0044 a0001c0002t0001 a0001c0002t0026 a0001c0002t0030 a0001c0004t0004 a0004c0014t0002	a0001c0001t0001g0038 a0001c0001t0002g0138 a0001c0001t0003g0057 others(10): Show a0001c0001t0001g0038 a0001c0001t0002g0138 a0001c0001t0003g0057 a0001c0001t0007g0005 a0001c0001t0008g0067 a0001c0001t0013g0033 a0001c0001t0039g0013 a0001c0001t0044g0006 a0001c0002t0001g0096 a0001c0002t0026g0140 a0001c0002t0030g0078 a0001c0004t0004g0042 a0004c0014t0002g0137	13	53	0.2453	23	c.646 others(42): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016251	A A	AGATAGAT others(16): Show AGATAGATGATAGATAGATTGATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0171 a0001c0002t0014g0172 a0001c0002t0014g0171 a0001c0002t0014g0172	2	186	0.0108	23	c.647 others(42): Show c.647-78627_647-78626insAGATGATAGATAGATTGATTGAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016266	A A	ATAGATAG others(16): Show ATAGATAGATATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02486.hp1 HG03239.hp2 others(7): Show HG02155.hp1 HG02486.hp1 HG03239.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18939.hp2 NA19081.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0115 others(7): Show a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0115 a0001c0001t0003g0020 a0001c0001t0003g0065 a0001c0001t0016g0121 a0001c0001t0044g0006 a0001c0002t0001g0061 a0001c0002t0002g0084 a0001c0002t0002g0103	10	158	0.0633	23	c.647 others(42): Show c.647-78605_647-78604insTAGATAGATAGATTAGATAGATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143469	A A	ATATATTA others(16): Show ATATATTATATATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0183 a0001c0001t0007g0183	1	132	0.0076	23	c.151 others(42): Show c.1513-3515_1513-3514insTATATTATATATATATAATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92155642	G G	GAAGTGAG others(16): Show GAAGTGAGAAGCTGACCACCAGCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03017.hp2 HG03942.hp2 HG00741.hp2 HG03017.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0048 a0001c0002t0020 a0001c0001t0020 a0001c0001t0048 a0001c0002t0020	a0001c0001t0020g0124 a0001c0001t0048g0004 a0001c0002t0020g0142 a0001c0001t0020g0124 a0001c0001t0048g0004 a0001c0002t0020g0142	3	188	0.0160	23	c.175 others(42): Show c.1753+4632_1753+4654dupTGAGAAGCTGACCACCAGCAAAG	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLFN12_chr17_35405922_35437500	35434428	A A	AGAGGAAG others(16): Show AGAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02027.hp2 HG00140.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0001g0231 a0001c0001t0001g0244	2	418	0.0048	23	c.-22 others(34): Show c.-2282_-2281insCTTCCTTCCTTCCTTCCTTCCTC	SLFN12	ENSG00000172123.13	transcript	ENST00000304905.10	protein_coding		1929		chr17	TogoVar
SLFN13_chr17_35430096_35453766	35434428	A A	AGAGGAAG others(16): Show AGAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02027.hp2 HG02165.hp2 others(1): Show HG00140.hp2 HG02027.hp2 HG02165.hp2 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0021 a0002c0002t0003 a0002c0002t0021	a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0021g0037 a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0021g0037	4	448	0.0089	23	c.61 others(34): Show c.6166_*6167insCTTCCTTCCTTCCTTCCTTCCTC	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding		667		chr17	TogoVar
SLIT3_chr5_168656740_169306139	168709683	T T	TAATTAAA others(16): Show TAATTAAAGTGTATCTATATATCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG03139.hp2 others(2): Show HG02486.hp2 HG02922.hp1 HG03139.hp2 HG03209.hp2 NA19030.hp1	a0004 a0011 a0013 others(1): Show a0004 a0011 a0013 a0015	a0004c0025 a0004c0039 a0011c0031 others(2): Show a0004c0025 a0004c0039 a0011c0031 a0013c0027 a0015c0028	a0004c0025t0006 a0004c0039t0006 a0011c0031t0006 others(2): Show a0004c0025t0006 a0004c0039t0006 a0011c0031t0006 a0013c0027t0010 a0015c0028t0006	a0004c0025t0006g0013 a0004c0039t0006g0087 a0011c0031t0006g0084 others(2): Show a0004c0025t0006g0013 a0004c0039t0006g0087 a0011c0031t0006g0084 a0013c0027t0010g0125 a0015c0028t0006g0014	5	132	0.0379	23	c.271 others(42): Show c.2719+1189_2719+1211dupTGATATATAGATACACTTTAATT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	25/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168746350	T T	TGTGTGGT others(16): Show TGTGTGGTGGTGTGTGGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00735.hp1 others(47): Show HG00408.hp1 HG00639.hp2 HG00735.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp2 HG01496.hp1 HG01934.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18957.hp1 NA18989.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19060.hp1 NA19066.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0010 a0011 a0014	a0001c0001 a0001c0003 a0001c0004 others(27): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0020 a0001c0037 a0001c0042 a0001c0047 a0001c0048 a0001c0050 a0001c0051 a0001c0052 a0002c0002 a0002c0005 a0002c0021 a0002c0053 a0003c0055 a0003c0057 a0004c0036 a0008c0035 a0010c0023 a0011c0031 a0014c0064	a0001c0001t0001 a0001c0001t0003 a0001c0001t0024 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0024 a0001c0003t0015 a0001c0003t0031 a0001c0004t0006 a0001c0004t0010 a0001c0004t0013 a0001c0006t0002 a0001c0006t0033 a0001c0007t0014 a0001c0009t0003 a0001c0009t0012 a0001c0010t0008 a0001c0013t0001 a0001c0014t0009 a0001c0016t0008 a0001c0016t0036 a0001c0017t0001 a0001c0020t0001 a0001c0037t0001 a0001c0042t0032 a0001c0047t0011 a0001c0048t0004 a0001c0050t0020 a0001c0051t0012 a0001c0052t0005 a0002c0002t0005 a0002c0002t0019 a0002c0005t0003 a0002c0021t0025 a0002c0053t0003 a0003c0055t0010 a0003c0057t0017 a0004c0036t0010 a0008c0035t0004 a0010c0023t0005 a0011c0031t0006 a0014c0064t0014	a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0072 others(47): Show a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0003g0122 a0001c0001t0024g0069 a0001c0003t0015g0007 a0001c0003t0015g0074 a0001c0003t0031g0026 a0001c0004t0006g0054 a0001c0004t0010g0131 a0001c0004t0013g0001 a0001c0004t0013g0002 a0001c0006t0002g0043 a0001c0006t0002g0063 a0001c0006t0033g0120 a0001c0007t0014g0055 a0001c0009t0003g0117 a0001c0009t0012g0035 a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0013t0001g0047 a0001c0013t0001g0091 a0001c0013t0001g0094 a0001c0014t0009g0112 a0001c0016t0008g0080 a0001c0016t0036g0132 a0001c0017t0001g0029 a0001c0017t0001g0062 a0001c0020t0001g0073 a0001c0037t0001g0021 a0001c0042t0032g0130 a0001c0047t0011g0012 a0001c0048t0004g0064 a0001c0050t0020g0003 a0001c0051t0012g0005 a0001c0052t0005g0088 a0002c0002t0005g0082 a0002c0002t0019g0105 a0002c0005t0003g0128 a0002c0021t0025g0056 a0002c0053t0003g0123 a0003c0055t0010g0115 a0003c0057t0017g0096 a0004c0036t0010g0129 a0008c0035t0004g0049 a0010c0023t0005g0085 a0011c0031t0006g0084 a0014c0064t0014g0024	50	107	0.4673	23	c.227 others(42): Show c.2270+1929_2270+1951dupTCACACACCACACACCACCACAC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168952528	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0050 a0001c0003t0016g0050	1	52	0.0192	23	c.414 others(42): Show c.414-69193_414-69192insTTTTTTTTTTTTTTTTTTTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp2 HG01167.hp1 others(15): Show HG00408.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp1 HG02015.hp1 HG02135.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03516.hp2 NA18522.hp1 NA18970.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0002c0002 a0002c0005 a0002c0021 a0002c0046 a0007c0045	a0001c0001t0001 a0001c0001t0003 a0001c0003t0015 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0015 a0001c0003t0016 a0001c0004t0013 a0001c0006t0033 a0001c0009t0001 a0002c0002t0008 a0002c0002t0017 a0002c0002t0023 a0002c0005t0026 a0002c0021t0025 a0002c0046t0001 a0007c0045t0002	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0083 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0003g0099 a0001c0003t0015g0074 a0001c0003t0016g0050 a0001c0004t0013g0001 a0001c0004t0013g0002 a0001c0006t0033g0120 a0001c0009t0001g0057 a0002c0002t0008g0022 a0002c0002t0017g0119 a0002c0002t0023g0086 a0002c0005t0026g0030 a0002c0021t0025g0056 a0002c0046t0001g0060 a0007c0045t0002g0079	18	27	0.6667	23	c.414 others(42): Show c.414-84102_414-84101insAAAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK3_chr3_165181720_165201384	165196927	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18990.hp1 NA18960.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0016 a0001c0001t0045g0145 a0001c0001t0002g0016 a0001c0001t0045g0145	2	390	0.0051	23	c.-13 others(34): Show c.-1370_-1369insAGAGAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		544		chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(16): Show CTTTTTTTTCTTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0181 a0001c0001t0011g0181	1	241	0.0041	23	c.150 others(42): Show c.1502-1576_1502-1575insCTTTTCTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	241	0.0041	23	c.150 others(42): Show c.1502-1575_1502-1574insTTTTTTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01169.hp1 others(4): Show HG01069.hp1 HG01168.hp1 HG01169.hp1 HG02896.hp1 HG02897.hp1 NA19012.hp1 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0001 a0001c0002t0021 a0003c0010t0001 a0001c0002t0001 a0001c0002t0021 a0003c0010t0001	a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0256 others(4): Show a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0021g0239 a0003c0010t0001g0285	7	126	0.0556	23	c.150 others(42): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258288	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG03225.hp1 others(1): Show HG01884.hp2 HG02572.hp1 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0008 a0001c0001t0002g0026	4	353	0.0113	23	c.-37 others(34): Show c.-3746_-3745insATCTATCTATCTATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3725		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258296	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	393	0.0051	23	c.-37 others(34): Show c.-3754_-3753insATCTATCTATCTATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3733		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	2	32	0.0625	23	c.299 others(42): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47830576	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0017 a0001c0002t0060g0017	1	23	0.0435	23	c.11 others(36): Show c.11250_*11251insTTTTTTTTTTTTTTTTTTTTTTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	11250		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850374	T T	TATGTATT others(16): Show TATGTATTATACATATTATGTATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0181	a0001c0001t0181g0097 a0001c0001t0181g0097	1	306	0.0033	23	c.784 others(38): Show c.784+899_784+900insTATACATAATATGTATAATACAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850440	T T	TATAATAT others(16): Show TATAATATATATTATATATTATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19043.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0196 a0001c0001t0226 a0001c0001t0196 a0001c0001t0226	a0001c0001t0196g0075 a0001c0001t0226g0050 a0001c0001t0196g0075 a0001c0001t0226g0050	2	308	0.0065	23	c.784 others(38): Show c.784+811_784+833dupGTATAATATATAATATATATTAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp2 HG02258.hp2 others(2): Show HG00741.hp2 HG01256.hp2 HG02258.hp2 HG02486.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0097 a0001c0001t0124 others(2): Show a0001c0001t0020 a0001c0001t0097 a0001c0001t0124 a0001c0001t0182 a0001c0001t0183	a0001c0001t0020g0233 a0001c0001t0097g0247 a0001c0001t0124g0222 others(2): Show a0001c0001t0020g0233 a0001c0001t0097g0247 a0001c0001t0124g0222 a0001c0001t0182g0214 a0001c0001t0183g0213	5	44	0.1136	23	c.237 others(42): Show c.237-11500_237-11478dupAAAAAAAAAAAAAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar

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