view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC17A9_chr20_62947709_62974585 | 62955314 | AT | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02896.hp1 others(3): Show |
a0001a0003a0005 | a0001c0008a0003c0007a0005c0009 | a0001c0008t0010a0003c0007t0005a0005c0009t0014 | a0001c0008t0010g0040 a0003c0007t0005g0036 a0005c0009t0014g0035 |
6 | 432 | 0.0139 | -1 | c.60- others(8): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC17A9_chr20_62947709_62974585 | 62958443 | AG | A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG02080.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0093 a0001c0001t0001g0112 others(1): Show |
6 | 432 | 0.0139 | -1 | c.397 others(8): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC17A9_chr20_62947709_62974585 | 62960578 | AT | A | frameshift_variant | HIGH | HG00741.hp2 HG01099.hp1 HG01175.hp1 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0009 | a0004c0006t0009g0011 | 5 | 432 | 0.0116 | -1 | c.473 others(4): Show |
p.Ile others(5): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 4/13 | 595/3518 | 473/1311 | 158/436 | chr20 | TogoVar | |||
SLC17A9_chr20_62947709_62974585 | 62961723 | CG | C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02145.hp2 others(7): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0006a0001c0001t0013a0006c0014t0004 | a0001c0001t0006g0030 a0001c0001t0006g0073 a0001c0001t0006g0074 others(6): Show |
10 | 432 | 0.0232 | -1 | c.498 others(8): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC17A9_chr20_62947709_62974585 | 62966594 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(362): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(177): Show |
365 | 432 | 0.8449 | -1 | c.111 others(8): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC17A9_chr20_62947709_62974585 | 62968665 | AT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(253): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0003a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(116): Show |
256 | 432 | 0.5926 | -1 | c.*11 others(6): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 13/13 | 1168 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SLC17A9_chr20_62947709_62974585 | 62972104 | TG | T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02148.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0013a0001c0001t0020others(1): Show | a0001c0001t0006g0030 a0001c0001t0006g0073 a0001c0001t0006g0074 others(8): Show |
12 | 432 | 0.0278 | -1 | c.*46 others(6): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 2520 | chr20 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20141271 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(85): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0006a0002c0001others(10): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0010others(15): Show | a0001c0003t0001g0150 a0001c0003t0001g0162 a0001c0003t0001g0163 others(81): Show |
88 | 434 | 0.2028 | -1 | c.*44 others(6): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 3583 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20145852 | TG | T | frameshift_variant | HIGH | NA19081.hp2 | a0024 | a0024c0022 | a0024c0022t0001 | a0024c0022t0001g0256 | 1 | 434 | 0.0023 | -1 | c.148 others(5): Show |
p.Met others(5): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 16/16 | 1685/2683 | 1488/1578 | 496/525 | chr8 | TogoVar | |||
SLC18A1_chr8_20139855_20188136 | 20145920 | AT | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00741.hp2 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0006a0002c0001others(4): Show | a0001c0003t0001a0001c0003t0019a0001c0006t0001others(11): Show | a0001c0003t0001g0176 a0001c0003t0001g0199 a0001c0003t0001g0210 others(57): Show |
67 | 434 | 0.1544 | -1 | c.146 others(8): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 15/15 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20146822 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(204): Show |
a0001a0002a0003others(13): Show | a0001c0003a0001c0006a0002c0001others(17): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0009others(28): Show | a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 others(193): Show |
207 | 434 | 0.4770 | -1 | c.146 others(9): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 15/15 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20147276 | CG | C | frameshift_variant | HIGH | NA19063.hp1 | a0023 | a0023c0024 | a0023c0024t0002 | a0023c0024t0002g0318 | 1 | 434 | 0.0023 | -1 | c.144 others(5): Show |
p.Pro others(5): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 15/16 | 1642/2683 | 1445/1578 | 482/525 | chr8 | TogoVar | |||
SLC18A1_chr8_20139855_20188136 | 20147325 | AC | A | frameshift_variant | HIGH | NA19063.hp1 | a0023 | a0023c0024 | a0023c0024t0002 | a0023c0024t0002g0318 | 1 | 434 | 0.0023 | -1 | c.139 others(5): Show |
p.Val others(5): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 15/16 | 1593/2683 | 1396/1578 | 466/525 | chr8 | TogoVar | |||
SLC18A1_chr8_20139855_20188136 | 20151147 | GT | G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00639.hp2 others(55): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0009a0002c0001others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0019others(11): Show | a0001c0003t0001g0176 a0001c0003t0002g0154 a0001c0003t0019g0213 others(47): Show |
58 | 434 | 0.1336 | -1 | c.101 others(9): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20151157 | TG | T | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01192.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0006a0002c0001others(6): Show | a0001c0003t0001a0001c0006t0001a0002c0001t0001others(8): Show | a0001c0003t0001g0192 a0001c0006t0001g0254 a0002c0001t0001g0281 others(17): Show |
20 | 434 | 0.0461 | -1 | c.101 others(9): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20153666 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(136): Show |
a0001a0002a0003others(10): Show | a0001c0003a0001c0006a0001c0020others(13): Show | a0001c0003t0001a0001c0003t0002a0001c0006t0001others(22): Show | a0001c0003t0001g0176 a0001c0003t0001g0208 a0001c0003t0001g0209 others(120): Show |
139 | 434 | 0.3203 | -1 | c.101 others(10): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20156257 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(119): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0006a0001c0020others(15): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0019others(22): Show | a0001c0003t0001g0171 a0001c0003t0001g0176 a0001c0003t0001g0192 others(108): Show |
122 | 434 | 0.2811 | -1 | c.101 others(10): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20159634 | CA | C | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02630.hp2 others(11): Show |
a0001a0002a0007others(1): Show | a0001c0003a0002c0001a0007c0008others(1): Show | a0001c0003t0001a0001c0003t0010a0002c0001t0001others(3): Show | a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0010g0211 others(9): Show |
14 | 434 | 0.0323 | -1 | c.101 others(10): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20160167 | TC | T | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02818.hp1 others(4): Show |
a0001a0007a0010 | a0001c0003a0007c0008a0010c0012 | a0001c0003t0009a0007c0008t0001a0010c0012t0001others(1): Show | a0001c0003t0009g0188 a0007c0008t0001g0008 a0010c0012t0001g0349 others(2): Show |
7 | 434 | 0.0161 | -1 | c.101 others(10): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20166119 | GA | G | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0193 a0001c0009t0007g0194 a0001c0009t0007g0195 others(1): Show |
4 | 434 | 0.0092 | -1 | c.859 others(9): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 8/15 | chr8 | TogoVar | |||||||
SLC18A1_chr8_20139855_20188136 | 20173895 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(109): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0006a0002c0001others(9): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0010others(16): Show | a0001c0003t0001g0186 a0001c0003t0001g0197 a0001c0003t0001g0198 others(103): Show |
112 | 434 | 0.2581 | -1 | c.631 others(8): Show |
SLC18A1 | ENSG00000036565.15 | transcript | ENST00000276373.10 | protein_coding | 5/15 | chr8 | TogoVar | |||||||
SLC18A2_chr10_117236114_117284430 | 117242438 | TA | T | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00738.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0185 a0001c0001t0002g0182 a0001c0001t0004g0337 others(40): Show |
44 | 356 | 0.1236 | -1 | c.121 others(8): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC18A2_chr10_117236114_117284430 | 117249839 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(123): Show |
133 | 356 | 0.3736 | -1 | c.465 others(9): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC18A2_chr10_117236114_117284430 | 117251327 | AT | A | intron_variant | MODIFIER | HG02056.hp1 NA18963.hp1 NA19082.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0001 | a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0003t0001g0045 |
3 | 356 | 0.0084 | -1 | c.465 others(9): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC18A2_chr10_117236114_117284430 | 117252134 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(128): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 others(123): Show |
131 | 356 | 0.3680 | -1 | c.465 others(9): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC18A2_chr10_117236114_117284430 | 117253425 | CG | C | frameshift_variant | HIGH | NA18974.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0147 | 1 | 356 | 0.0028 | -1 | c.494 others(4): Show |
p.Gly others(5): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 4/16 | 616/3831 | 494/1545 | 165/514 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
SLC18A2_chr10_117236114_117284430 | 117253568 | GT | G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01168.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0043 others(27): Show |
31 | 356 | 0.0871 | -1 | c.523 others(8): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 4/15 | chr10 | TogoVar | |||||||
SLC18A2_chr10_117236114_117284430 | 117257874 | TC | T | frameshift_variant | HIGH | NA18974.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0147 | 1 | 356 | 0.0028 | -1 | c.976 others(4): Show |
p.Arg others(5): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 10/16 | 1098/3831 | 976/1545 | 326/514 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
SLC18A2_chr10_117236114_117284430 | 117258573 | AT | A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0039 others(49): Show |
53 | 356 | 0.1489 | -1 | c.991 others(8): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC18A2_chr10_117236114_117284430 | 117258766 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(217): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(209): Show |
220 | 356 | 0.6180 | -1 | c.991 others(8): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC18A2_chr10_117236114_117284430 | 117262240 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0329 a0001c0001t0003g0013 a0001c0001t0003g0015 others(41): Show |
46 | 356 | 0.1292 | -1 | c.991 others(9): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC18A2_chr10_117236114_117284430 | 117263905 | CT | C | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01884.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0005 a0001c0001t0004g0016 a0001c0001t0004g0032 others(19): Show |
23 | 356 | 0.0646 | -1 | c.992 others(9): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 10/15 | chr10 | TogoVar | |||||||
SLC18A2_chr10_117236114_117284430 | 117276767 | TC | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02071.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0006a0001c0002t0006a0001c0008t0006 | a0001c0001t0006g0002 a0001c0001t0006g0014 a0001c0001t0006g0030 others(8): Show |
13 | 356 | 0.0365 | -1 | c.144 others(9): Show |
SLC18A2 | ENSG00000165646.14 | transcript | ENST00000644641.2 | protein_coding | 15/15 | chr10 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132767573 | CT | C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01516.hp1 HG01891.hp2 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0004a0002c0004t0020others(1): Show | a0001c0001t0001g0105 a0001c0001t0001g0166 a0001c0001t0001g0220 others(4): Show |
7 | 304 | 0.0230 | -1 | c.*26 others(6): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 1796 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132772092 | CA | C | intron_variant | MODIFIER | HG01074.hp2 HG01169.hp1 HG01346.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0013 | a0001c0001t0001a0002c0003t0003a0002c0003t0014others(1): Show | a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0144 others(6): Show |
9 | 304 | 0.0296 | -1 | c.116 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 11/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132773873 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01109.hp1 others(61): Show |
a0002a0004a0008others(3): Show | a0002c0002a0002c0003a0002c0004others(7): Show | a0002c0002t0002a0002c0002t0006a0002c0002t0012others(17): Show | a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 others(61): Show |
64 | 304 | 0.2105 | -1 | c.989 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132776664 | AC | A | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG02015.hp1 others(8): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0004a0002c0004t0005a0002c0004t0011 | a0002c0003t0004g0075 a0002c0004t0005g0003 a0002c0004t0005g0004 others(8): Show |
11 | 304 | 0.0362 | -1 | c.796 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132778115 | TG | T | intron_variant | MODIFIER | HG02486.hp1 HG03516.hp2 NA19240.hp2 |
a0002 | a0002c0003a0002c0013 | a0002c0003t0003a0002c0003t0014a0002c0013t0013 | a0002c0003t0003g0027 a0002c0003t0014g0038 a0002c0013t0013g0037 |
3 | 304 | 0.0099 | -1 | c.795 others(9): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132779427 | GA | G | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG02145.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0006others(1): Show | a0001c0001t0001g0100 a0001c0001t0001g0126 a0001c0001t0001g0156 others(24): Show |
27 | 304 | 0.0888 | -1 | c.659 others(7): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132780565 | GT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0016a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(16): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(80): Show |
83 | 304 | 0.2730 | -1 | c.659 others(9): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132780592 | GA | G | intron_variant | MODIFIER | HG00280.hp2 HG01891.hp1 HG02109.hp2 others(14): Show |
a0002a0004a0009 | a0002c0003a0002c0004a0004c0007others(1): Show | a0002c0003t0015a0002c0004t0002a0002c0004t0020others(3): Show | a0002c0003t0015g0068 a0002c0004t0002g0013 a0002c0004t0002g0014 others(14): Show |
17 | 304 | 0.0559 | -1 | c.659 others(9): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132781757 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00735.hp1 others(78): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0017others(10): Show | a0001c0001t0001a0001c0001t0007a0001c0005t0003others(21): Show | a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0007g0047 others(78): Show |
81 | 304 | 0.2665 | -1 | c.658 others(9): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132785042 | TA | T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0005t0003others(8): Show | a0001c0001t0001g0162 a0001c0001t0001g0288 a0001c0001t0001g0291 others(49): Show |
52 | 304 | 0.1711 | -1 | c.502 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 5/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132785897 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(76): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0016a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0100 others(76): Show |
79 | 304 | 0.2599 | -1 | c.501 others(9): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 5/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132786555 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(202): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0016a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0084 others(200): Show |
205 | 304 | 0.6743 | -1 | c.501 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 5/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132787624 | CT | C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(14): Show |
a0001 | a0001c0001a0001c0005a0001c0017 | a0001c0001t0001a0001c0001t0007a0001c0005t0003others(1): Show | a0001c0001t0001g0269 a0001c0001t0007g0047 a0001c0001t0007g0048 others(14): Show |
17 | 304 | 0.0559 | -1 | c.354 others(7): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 4/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132788175 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01884.hp2 others(42): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0003a0002c0004others(7): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0004others(14): Show | a0001c0001t0001g0108 a0001c0001t0001g0130 a0001c0001t0001g0297 others(42): Show |
45 | 304 | 0.1480 | -1 | c.354 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 4/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132789426 | GA | G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02280.hp2 others(15): Show |
a0002a0008a0010others(1): Show | a0002c0003a0002c0013a0008c0012others(2): Show | a0002c0003t0003a0002c0003t0004a0002c0003t0010others(5): Show | a0002c0003t0003g0027 a0002c0003t0004g0071 a0002c0003t0004g0072 others(15): Show |
18 | 304 | 0.0592 | -1 | c.353 others(8): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 4/13 | chr6 | TogoVar | |||||||
SLC18B1_chr6_132764370_132803637 | 132790258 | TC | T | frameshift_variant | HIGH | NA18963.hp1 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0282 | 1 | 304 | 0.0033 | -1 | c.197 others(4): Show |
p.Gly others(4): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 3/14 | 378/2452 | 197/1371 | 66/456 | chr6 | TogoVar | |||
SLC18B1_chr6_132764370_132803637 | 132792290 | AG | A | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
a0002 | a0002c0002a0002c0004a0002c0009 | a0002c0002t0002a0002c0002t0006a0002c0004t0005others(1): Show | a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0024 others(3): Show |
6 | 304 | 0.0197 | -1 | c.184 others(9): Show |
SLC18B1 | ENSG00000146409.12 | transcript | ENST00000275227.9 | protein_coding | 2/13 | chr6 | TogoVar |