view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSG1_chr12_13078532_13108667 | 13104386 | ACATCATT others(2495): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 NA18971.hp2 NA19059.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0189a0001c0001t0002g0191 | 3 | 448 | 0.0067 | -2502 | c.-33 others(10): Show |
GSG1 | ENSG00000111305.19 | transcript | ENST00000651961.1 | protein_coding | 720 | chr12 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159180407 | GTCCTTTT others(2495): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 252 | 0.0040 | -2502 | c.10- others(17): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49069402 | TTTTATAT others(2494): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0011a0001c0001t0001g0050a0001c0001t0016g0001 | 3 | 104 | 0.0289 | -2501 | c.378 others(19): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2642731 | CACAGCTC others(2491): Show |
C | splice_region_variant | LOW | HG02965.hp2 | a0026 | a0026c0027 | a0026c0027t0025 | a0026c0027t0025g0264 | 1 | 344 | 0.0029 | -2498 | c.*13 others(11): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 20/20 | chr20 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8796595 | TTTGGATG others(2490): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0005 | 1 | 34 | 0.0294 | -2497 | c.-10 others(21): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92131343 | ACCTCCCT others(2490): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00735.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0105a0001c0001t0002g0113a0001c0001t0002g0154others(12): Show | 15 | 190 | 0.0790 | -2497 | c.151 others(19): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1342590 | CCCCCTGT others(2489): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0083 | 1 | 190 | 0.0053 | -2496 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1343723 | CTTTTCCC others(2488): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0074 | 1 | 190 | 0.0053 | -2495 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NUDT3_chr6_34274679_34397669 | 34349330 | AAGACCAA others(2487): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0031a0001c0001t0033others(2): Show | a0001c0001t0004g0133a0001c0001t0004g0137a0001c0001t0004g0138others(11): Show | 14 | 270 | 0.0519 | -2494 | c.100 others(17): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
ACSL3_chr2_222856036_222949639 | 222895460 | TTACTTTG others(2486): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(224): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(221): Show | 227 | 252 | 0.9008 | -2493 | c.-14 others(19): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAXX_chr6_33313558_33327959 | 33325095 | GGTGGCTC others(2486): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 13 | 375 | 0.0347 | -2493 | c.-47 others(11): Show |
DAXX | ENSG00000204209.13 | transcript | ENST00000374542.10 | protein_coding | 2137 | chr6 | TogoVar | |||||||
SMIM40_chr6_33318628_33334279 | 33325095 | GGTGGCTC others(2486): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0112a0001c0001t0001g0113others(1): Show | 13 | 383 | 0.0339 | -2493 | c.*39 others(17): Show |
SMIM40 | ENSG00000286920.2 | transcript | ENST00000494082.3 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241805520 | CTCCCTCC others(2485): Show |
C | upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | -2492 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3672 | chr2 | TogoVar | |||||||
RNPEPL1_chr2_240563484_240586372 | 240579805 | GTTGTTTT others(2483): Show |
G | splice_region_variant others(1): Show |
LOW | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0194 | 1 | 402 | 0.0025 | -2490 | c.*19 others(11): Show |
RNPEPL1 | ENSG00000142327.13 | transcript | ENST00000270357.10 | protein_coding | 11/11 | 0 | chr2 | TogoVar | ||||||
MOB1B_chr4_70897369_70993168 | 70936541 | TTTTTGAC others(2481): Show |
T | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 284 | 0.0035 | -2488 | c.15- others(17): Show |
MOB1B | ENSG00000173542.9 | transcript | ENST00000309395.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154222393 | CGCCTGTA others(2480): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01071.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0007a0001c0016others(5): Show | a0001c0003t0008a0001c0007t0005a0001c0016t0013others(5): Show | a0001c0003t0008g0025a0001c0007t0005g0038a0001c0016t0013g0014others(5): Show | 8 | 38 | 0.2105 | -2487 | c.243 others(21): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1075890 | TGTGGGGG others(2479): Show |
T | upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | -2486 | c.-43 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 1585 | chr1 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 151004940 | TGCCTTTC others(2477): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 226 | 0.0044 | -2484 | c.212 others(19): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | chr6 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805198 | TGCAGGCC others(2476): Show |
T | downstream_gene_variant | MODIFIER | NA18939.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0246 | 1 | 314 | 0.0032 | -2483 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 912 | chr2 | TogoVar | |||||||
EWSR1_chr22_29263268_29305521 | 29283419 | GATCTCCG others(2475): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166a0001c0001t0001g0167a0001c0001t0001g0245others(4): Show | 7 | 390 | 0.0180 | -2482 | c.581 others(16): Show |
EWSR1 | ENSG00000182944.18 | transcript | ENST00000397938.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
P4HA3_chr11_74261657_74316640 | 74313860 | AAGCTTAA others(2475): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(101): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0031a0001c0001t0001g0109others(61): Show | 104 | 398 | 0.2613 | -2482 | c.-47 others(11): Show |
P4HA3 | ENSG00000149380.12 | transcript | ENST00000331597.9 | protein_coding | 2221 | chr11 | TogoVar | |||||||
MAGT1_chrX_77820747_77900435 | 77865888 | TCTCACGC others(2474): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(86): Show | 89 | 260 | 0.3423 | -2481 | c.390 others(17): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 3/9 | chrX | TogoVar | |||||||
NPIPA2_chr16_14737533_14770462 | 14767981 | CAGCCCAG others(2474): Show |
C | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0145 | 1 | 205 | 0.0049 | -2481 | c.*25 others(11): Show |
NPIPA2 | ENSG00000254852.9 | transcript | ENST00000529166.6 | protein_coding | 2520 | chr16 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 356922 | CTCAGTCA others(2473): Show |
C | intron_variant | MODIFIER | HG03834.hp2 HG03927.hp2 |
a0001a0002 | a0001c0017a0002c0002 | a0001c0017t0016a0002c0002t0052 | a0001c0017t0016g0176a0002c0002t0052g0194 | 2 | 268 | 0.0075 | -2480 | c.244 others(17): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198012773 | TCCTAACT others(2473): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0042 | 1 | 258 | 0.0039 | -2480 | c.132 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 253664 | GTCCCTAG others(2472): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 133 | 0.0075 | -2479 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 253977 | TGCACGGC others(2472): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0108 | 1 | 133 | 0.0075 | -2479 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SLC25A24_chr1_108129043_108205343 | 108190702 | TTTTTTAA others(2471): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0017others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0009others(49): Show | 59 | 374 | 0.1578 | -2478 | c.183 others(17): Show |
SLC25A24 | ENSG00000085491.17 | transcript | ENST00000565488.6 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SLC25A24_chr1_108129043_108205343 | 108190703 | TTTTTAAT others(2470): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(8): Show | a0001c0001t0002g0003a0001c0001t0002g0124a0001c0001t0002g0143others(67): Show | 79 | 374 | 0.2112 | -2477 | c.183 others(17): Show |
SLC25A24 | ENSG00000085491.17 | transcript | ENST00000565488.6 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104948962 | AAACGACG others(2468): Show |
A | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG00738.hp2 HG01109.hp1 others(9): Show |
a0007a0165a0166others(2): Show | a0007c0004a0007c0104a0165c0100others(3): Show | a0007c0004t0001a0007c0104t0001a0165c0100t0001others(3): Show | a0007c0004t0001g0237a0007c0004t0001g0238a0007c0004t0001g0242others(9): Show | 12 | 356 | 0.0337 | -2475 | c.401 others(9): Show |
p.Gly others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 6625/18335 | 4014/17388 | 1338/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104950535 | TGCGCACC others(2468): Show |
T | disruptive_inframe_deletion | MODERATE | HG02015.hp2 | a0104 | a0104c0212 | a0104c0212t0002 | a0104c0212t0002g0259 | 1 | 356 | 0.0028 | -2475 | c.244 others(9): Show |
p.Arg others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5052/18335 | 2441/17388 | 814/5795 | chr14 | TogoVar | |||
TRIM16_chr17_15622966_15689311 | 15686836 | GAGTGGCC others(2468): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02647.hp2 HG02895.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0006a0003c0004others(1): Show | a0001c0001t0001a0002c0006t0001a0003c0004t0003others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0073a0001c0001t0001g0074others(8): Show | 11 | 360 | 0.0306 | -2475 | c.-60 others(11): Show |
TRIM16 | ENSG00000221926.13 | transcript | ENST00000649191.2 | protein_coding | 2526 | chr17 | TogoVar | |||||||
TUBA3E_chr2_130186745_130203439 | 130197356 | ACACACCT others(2467): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(14): Show | a0001c0002t0002a0001c0005t0002a0001c0011t0002others(14): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0006others(31): Show | 177 | 428 | 0.4136 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277729 | AGAGAGAG others(2465): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0010 | 1 | 50 | 0.0200 | -2472 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22636208 | TAAATTAA others(2465): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0056a0002c0002t0007a0002c0002t0008others(24): Show | a0001c0001t0056g0279a0002c0002t0007g0326a0002c0002t0007g0330others(81): Show | 90 | 362 | 0.2486 | -2472 | c.-27 others(17): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
ZNF566_chr19_36440119_36494561 | 36466904 | TAAAAATA others(2464): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0008a0001c0002t0008g0178a0001c0002t0008g0179others(1): Show | 5 | 302 | 0.0166 | -2471 | c.232 others(17): Show |
ZNF566 | ENSG00000186017.16 | transcript | ENST00000452939.7 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
AQP11_chr11_77584953_77615356 | 77599116 | GGTGATGT others(2462): Show |
G | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 432 | 0.0023 | -2469 | c.620 others(17): Show |
AQP11 | ENSG00000178301.4 | transcript | ENST00000313578.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8264954 | GCTTGAAC others(2460): Show |
G | downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 418 | 0.0024 | -2467 | c.*28 others(11): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2534 | chr19 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60834786 | TTGATTTT others(2459): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0019a0001c0001t0005g0022a0001c0001t0015g0020 | 3 | 258 | 0.0116 | -2466 | c.-86 others(17): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
NELL1_chr11_20664586_21580686 | 21401473 | TGCATCCT others(2455): Show |
T | intron_variant | MODIFIER | HG03130.hp1 HG03225.hp1 NA19043.hp2 |
a0001a0007 | a0001c0006a0007c0016 | a0001c0006t0002a0001c0006t0007a0007c0016t0002 | a0001c0006t0002g0082a0001c0006t0007g0014a0007c0016t0002g0033 | 3 | 88 | 0.0341 | -2462 | c.164 others(21): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49377265 | CAAACAAA others(2454): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(163): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0049a0001c0001t0001g0050others(162): Show | 166 | 324 | 0.5124 | -2461 | c.112 others(16): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 4/10 | chr13 | TogoVar | |||||||
GARIN1B_chr7_128710391_128736743 | 128719135 | AGCTTAAC others(2449): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 452 | 0.0022 | -2456 | c.687 others(15): Show |
GARIN1B | ENSG00000135248.16 | transcript | ENST00000621392.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HAVCR2_chr5_157080832_157114044 | 157111022 | ACCACCAT others(2449): Show |
A | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 380 | 0.0026 | -2456 | c.-44 others(11): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 1979 | chr5 | TogoVar | |||||||
LRIG2_chr1_113068198_113137260 | 113068700 | TAAAAACA others(2448): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(142): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0117a0001c0001t0001g0152a0001c0001t0001g0156others(142): Show | 145 | 268 | 0.5410 | -2455 | c.-47 others(11): Show |
LRIG2 | ENSG00000198799.12 | transcript | ENST00000361127.6 | protein_coding | 4497 | chr1 | TogoVar | |||||||
UTS2B_chr3_191262168_191335526 | 191293421 | ACTTCTAT others(2448): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03209.hp2 HG03225.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0002c0002t0010a0003c0003t0003 | a0002c0002t0003g0146a0002c0002t0003g0250a0002c0002t0010g0147others(3): Show | 6 | 402 | 0.0149 | -2455 | c.-12 others(20): Show |
UTS2B | ENSG00000188958.10 | transcript | ENST00000340524.10 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104950839 | CCTTGAGG others(2447): Show |
C | conservative_inframe_deletion | MODERATE | HG02109.hp1 | a0055 | a0055c0205 | a0055c0205t0002 | a0055c0205t0002g0069 | 1 | 356 | 0.0028 | -2454 | c.215 others(9): Show |
p.Thr others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4748/18335 | 2158/17388 | 720/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104950948 | CGGCATCT others(2447): Show |
C | disruptive_inframe_deletion | MODERATE | HG00733.hp1 | a0205 | a0205c0245 | a0205c0245t0002 | a0205c0245t0002g0067 | 1 | 356 | 0.0028 | -2454 | c.204 others(9): Show |
p.Leu others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4639/18335 | 2049/17388 | 683/5795 | chr14 | TogoVar | |||
HIGD1A_chr3_42777908_42809490 | 42796864 | TAGAATCT others(2447): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(190): Show | 383 | 400 | 0.9575 | -2454 | c.-22 others(17): Show |
HIGD1A | ENSG00000181061.14 | transcript | ENST00000321331.12 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
LCE3D_chr1_152574381_152585516 | 152583064 | TGCTCTGA others(2445): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(183): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0006t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0002c0002t0001g0003others(3): Show | 186 | 342 | 0.5439 | -2452 | c.-50 others(11): Show |
LCE3D | ENSG00000163202.5 | transcript | ENST00000368787.4 | protein_coding | 2549 | chr1 | TogoVar | |||||||
ADGRG3_chr16_57663306_57694378 | 57691483 | GCTCCAAG others(2444): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0005a0001c0002t0016others(2): Show | a0001c0001t0001g0057a0001c0001t0001g0068a0001c0001t0001g0127others(22): Show | 38 | 448 | 0.0848 | -2451 | c.*30 others(11): Show |
ADGRG3 | ENSG00000182885.17 | transcript | ENST00000333493.9 | protein_coding | 2106 | chr16 | TogoVar |