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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LEPR_chr1_65415668_65646559 | 65558490 | TGTTTCTT others(6087): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(52): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0008a0003c0004others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0030others(21): Show | a0001c0001t0002g0139 a0001c0001t0003g0012 a0001c0001t0003g0074 others(52): Show |
55 | 216 | 0.2546 | -6094 | c.-20 others(16): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101102084 | TAGGAACA others(6085): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0019 a0001c0001t0002g0018 a0001c0001t0002g0200 others(3): Show |
6 | 203 | 0.0296 | -6092 | c.-46 others(19): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CD38_chr4_15773328_15858232 | 15841532 | TAAAAGCA others(6080): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0019a0001c0001t0060others(3): Show | a0001c0001t0017g0053 a0001c0001t0019g0156 a0001c0001t0060g0047 others(3): Show |
6 | 344 | 0.0174 | -6087 | c.839 others(16): Show |
CD38 | ENSG00000004468.13 | transcript | ENST00000226279.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FER1L6_chr8_123846987_124125061 | 123859925 | GCCACATT others(6075): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0002t0003a0001c0005t0003others(5): Show | a0001c0001t0002g0047 a0001c0002t0003g0023 a0001c0002t0003g0024 others(6): Show |
9 | 196 | 0.0459 | -6082 | c.-8+ others(16): Show |
FER1L6 | ENSG00000214814.7 | transcript | ENST00000522917.5 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PLEKHH2_chr2_43632260_43772987 | 43660421 | AAACATAT others(6072): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02622.hp1 others(4): Show |
a0001a0003a0004others(2): Show | a0001c0007a0001c0009a0003c0004others(3): Show | a0001c0007t0001a0001c0009t0002a0003c0004t0002others(3): Show | a0001c0007t0001g0191 a0001c0009t0002g0106 a0003c0004t0002g0100 others(4): Show |
7 | 256 | 0.0273 | -6079 | c.123 others(19): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70010327 | TCAAAACA others(6068): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00642.hp2 others(39): Show |
a0002a0006a0012 | a0002c0003a0002c0004a0002c0006others(4): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0012others(16): Show | a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0026 others(39): Show |
42 | 182 | 0.2308 | -6075 | c.102 others(20): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FRAS1_chr4_78052323_78549269 | 78347966 | CAAAGCTT others(6068): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
a0001a0002a0003others(87): Show | a0001c0001a0001c0013a0002c0003others(102): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(117): Show | a0001c0001t0001g0086 a0001c0001t0002g0072 a0001c0001t0002g0075 others(141): Show |
144 | 178 | 0.8090 | -6075 | c.242 others(20): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 20/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RIPOR2_chr6_24799284_24940960 | 24811647 | TCGTTTAG others(6068): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(233): Show |
a0001a0002a0005others(11): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(47): Show | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0023 others(233): Show |
236 | 328 | 0.7195 | -6075 | c.295 others(18): Show |
RIPOR2 | ENSG00000111913.20 | transcript | ENST00000643898.2 | protein_coding | 20/21 | chr6 | TogoVar | |||||||
CDH13_chr16_82621969_83805640 | 83637234 | GAAAAATT others(6066): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00642.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0077 a0001c0001t0002g0007 a0001c0001t0002g0016 others(25): Show |
28 | 110 | 0.2546 | -6073 | c.110 others(21): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASEF_chr9_82974590_83068142 | 83049519 | TTCTGCCT others(6066): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 HG03471.hp1 others(1): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0019a0005c0006t0036a0005c0006t0037 | a0004c0005t0019g0328 a0004c0005t0019g0329 a0005c0006t0036g0331 others(1): Show |
4 | 334 | 0.0120 | -6073 | c.431 others(18): Show |
RASEF | ENSG00000165105.10 | transcript | ENST00000376447.4 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 642168 | GATGCTGG others(6064): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp1 HG01884.hp1 others(8): Show |
a0001a0007a0008others(1): Show | a0001c0054a0007c0014a0007c0028others(2): Show | a0001c0054t0008a0007c0014t0001a0007c0028t0001others(2): Show | a0001c0054t0008g0077 a0007c0014t0001g0073 a0007c0028t0001g0074 others(8): Show |
11 | 254 | 0.0433 | -6071 | c.-83 others(19): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
UPK3B_chr7_76505552_76521522 | 76515455 | GGATACCC others(6060): Show |
G | splice_region_variant | LOW | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002 | 1 | 340 | 0.0029 | -6067 | c.*25 others(10): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 6/6 | chr7 | TogoVar | |||||||
ZNF385D_chr3_21407218_21756210 | 21533176 | CTGCAGCT others(6060): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0163 | 1 | 256 | 0.0039 | -6067 | c.276 others(19): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 3/7 | chr3 | TogoVar | |||||||
CNTLN_chr9_17130040_17508923 | 17257438 | GGTGTGCA others(6059): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02895.hp1 others(2): Show |
a0011a0013 | a0011c0015a0013c0019 | a0011c0015t0002a0013c0019t0002 | a0011c0015t0002g0213 a0011c0015t0002g0214 a0011c0015t0002g0215 others(2): Show |
5 | 218 | 0.0229 | -6066 | c.850 others(19): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7465078 | TGAAAAGA others(6059): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0027 | a0027c0042 | a0027c0042t0002 | a0027c0042t0002g0089 | 1 | 196 | 0.0051 | -6066 | c.130 others(19): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 15/34 | chr7 | TogoVar | |||||||
NOD1_chr7_30419527_30483784 | 30439232 | CAAAAGAA others(6059): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0004a0001c0003t0014 | a0001c0001t0007g0032 a0001c0001t0007g0034 a0001c0001t0007g0035 others(14): Show |
18 | 358 | 0.0503 | -6066 | c.245 others(18): Show |
NOD1 | ENSG00000106100.11 | transcript | ENST00000222823.9 | protein_coding | 9/13 | chr7 | TogoVar | |||||||
UPK3B_chr7_76505552_76521522 | 76515456 | GATACCCA others(6059): Show |
G | splice_region_variant | LOW | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(187): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(53): Show |
190 | 340 | 0.5588 | -6066 | c.*25 others(10): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 6/6 | chr7 | TogoVar | |||||||
DEUP1_chr11_93325742_93443470 | 93420970 | TGAAAATG others(6054): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(314): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0012a0001c0014others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0046 others(292): Show |
317 | 368 | 0.8614 | -6061 | c.163 others(20): Show |
DEUP1 | ENSG00000165325.15 | transcript | ENST00000298050.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14929436 | TGTTGTTA others(6054): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0087 | a0001c0001t0058g0097 a0001c0001t0087g0088 |
2 | 102 | 0.0196 | -6061 | c.39+ others(19): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128998370 | CAGAAGTA others(6052): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(41): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0011a0002c0003others(34): Show | a0001c0001t0001a0001c0011t0002a0002c0003t0003others(36): Show | a0001c0001t0001g0052 a0001c0011t0002g0003 a0002c0003t0003g0038 others(41): Show |
44 | 88 | 0.5000 | -6059 | c.113 others(19): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ATAT1_chr6_30621874_30651821 | 30636323 | ACCTGTAA others(6051): Show |
A | exon_loss_variant | HIGH | NA20129.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0164 | 1 | 405 | 0.0025 | -6058 | c.538 others(16): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72875530 | TTGCAAAT others(6051): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(139): Show |
142 | 164 | 0.8659 | -6058 | c.580 others(19): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128998379 | GATGACAG others(6051): Show |
G | intron_variant | MODIFIER | HG03130.hp1 NA19043.hp2 |
a0004a0022 | a0004c0051a0022c0019 | a0004c0051t0001a0022c0019t0002 | a0004c0051t0001g0008 a0022c0019t0002g0012 |
2 | 88 | 0.0227 | -6058 | c.113 others(19): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | chr6 | TogoVar | |||||||
NIBAN1_chr1_184786032_184979508 | 184845594 | CAAAAATT others(6049): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(122): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0002c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(33): Show | a0001c0001t0001g0056 a0001c0001t0002g0021 a0001c0001t0002g0024 others(122): Show |
125 | 256 | 0.4883 | -6056 | c.602 others(19): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 5/13 | chr1 | TogoVar | |||||||
HSD17B11_chr4_87331515_87396188 | 87347091 | TTAGTATT others(6048): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0001g0249 a0001c0001t0005g0154 a0001c0001t0005g0155 others(58): Show |
62 | 390 | 0.1590 | -6055 | c.695 others(17): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 91734062 | CTTTTCTG others(6044): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 others(3): Show |
6 | 42 | 0.1429 | -6051 | c.115 others(20): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 93638288 | TTAAAACT others(6044): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02922.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(11): Show |
14 | 34 | 0.4118 | -6051 | c.236 others(21): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HOMER2_chr15_82843983_82957720 | 82882868 | ACACCAGC others(6043): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(240): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(240): Show |
243 | 348 | 0.6983 | -6050 | c.162 others(17): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 2/8 | chr15 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113497205 | TAAGATCA others(6043): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01070.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0072 a0001c0001t0002g0089 a0001c0001t0003g0055 others(67): Show |
70 | 236 | 0.2966 | -6050 | c.317 others(19): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRP2_chr2_169122109_169367534 | 169248605 | CAAAAAAC others(6040): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01081.hp2 others(22): Show |
a0001a0002a0003others(9): Show | a0001c0039a0001c0090a0001c0099others(21): Show | a0001c0039t0001a0001c0090t0007a0001c0099t0001others(21): Show | a0001c0039t0001g0020 a0001c0090t0007g0040 a0001c0099t0001g0107 others(22): Show |
25 | 250 | 0.1000 | -6047 | c.277 others(19): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 19/78 | chr2 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 79966892 | TAAGAATA others(6038): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(181): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0047 others(178): Show |
184 | 268 | 0.6866 | -6045 | c.142 others(20): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | |||||||
CRACDL_chr2_98788846_98941225 | 98886464 | GGGAAGGC others(6037): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 316 | 0.0032 | -6044 | c.-11 others(19): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
EPHA3_chr3_89102621_89487134 | 89460814 | TCTGTCTC others(6035): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00741.hp1 others(44): Show |
a0002a0004a0006 | a0002c0003a0002c0005a0002c0011others(3): Show | a0002c0003t0002a0002c0003t0003a0002c0003t0011others(6): Show | a0002c0003t0002g0008 a0002c0003t0003g0013 a0002c0003t0003g0015 others(44): Show |
47 | 200 | 0.2350 | -6042 | c.269 others(20): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 92934376 | TTTTGTAT others(6031): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 NA18950.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0002t0001g0004 |
3 | 34 | 0.0882 | -6038 | c.245 others(21): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51874764 | TAAAAACA others(6031): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG00741.hp2 others(69): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0032others(46): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(53): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0058 others(69): Show |
72 | 134 | 0.5373 | -6038 | c.735 others(19): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 46/66 | chr6 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166755885 | TAAGAGAT others(6028): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0085 others(100): Show |
103 | 144 | 0.7153 | -6035 | c.710 others(17): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
FSTL4_chr5_133191455_133617541 | 133583273 | TAAGATCA others(6019): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(33): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0016others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 others(33): Show |
36 | 176 | 0.2046 | -6026 | c.126 others(19): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
EXOSC7_chr3_44971244_45016471 | 45003609 | TAGCTGGA others(6001): Show |
T | exon_loss_variant | HIGH | NA19057.hp1 | a0000 | a0000c0008 | a0000c0008t0001 | a0000c0008t0001g0258 | 1 | 340 | 0.0029 | -6008 | c.492 others(17): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48249131 | AGGTTGCA others(5998): Show |
A | exon_loss_variant | HIGH | NA18977.hp1 NA19001.hp2 |
a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0158 a0001c0004t0025g0159 |
2 | 362 | 0.0055 | -6005 | c.-25 others(16): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
GOLGA6C_chr15_75253334_75278455 | 75272456 | CTGGGTTT others(5992): Show |
C | splice_region_variant | LOW | HG03453.hp1 | a0001 | a0001c0024 | a0001c0024t0020 | a0001c0024t0020g0134 | 1 | 200 | 0.0050 | -5999 | c.*22 others(11): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 18/18 | chr15 | TogoVar | |||||||
PRAMEF4_chr1_12874212_12891201 | 12875534 | CTAGCTAA others(5989): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01891.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0000 | a0000c0007 | a0000c0007t0005 | a0000c0007t0005g0010 a0000c0007t0005g0074 |
5 | 324 | 0.0154 | -5996 | c.875 others(13): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51629415 | TCTGACAG others(5979): Show |
T | exon_loss_variant | HIGH | HG00609.hp2 HG02080.hp1 HG02129.hp2 others(7): Show |
a0009a0012a0018 | a0009c0016a0009c0029a0009c0031others(2): Show | a0009c0016t0003a0009c0029t0003a0009c0031t0003others(3): Show | a0009c0016t0003g0019 a0009c0016t0003g0050 a0009c0016t0003g0052 others(6): Show |
10 | 414 | 0.0242 | -5986 | c.-50 others(9): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2/9 | 708/2993 | chr19 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24636823 | AAAAATAA others(5973): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 | 1 | 116 | 0.0086 | -5980 | c.63- others(17): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
SPATA31D4_chr9_81923428_81939998 | 81934029 | ACAGGGTC others(5962): Show |
A | splice_region_variant | LOW | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0008 | 1 | 360 | 0.0028 | -5969 | c.*11 others(11): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
AGK_chr7_141546410_141660244 | 141578085 | CGTCCATG others(5958): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 |
3 | 274 | 0.0110 | -5965 | c.102 others(18): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124185316 | TCTAACAA others(5944): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0007 | a0007c0052 | a0007c0052t0008 | a0007c0052t0008g0075 | 1 | 116 | 0.0086 | -5951 | c.74- others(17): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | chr3 | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12116556 | AACTTTTA others(5941): Show |
A | exon_loss_variant | HIGH | HG00621.hp1 | a0000 | a0000c0016 | a0000c0016t0021 | a0000c0016t0021g0265 | 1 | 374 | 0.0027 | -5948 | c.232 others(15): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 14/17 | chr10 | TogoVar | |||||||
SPRR2B_chr1_153065226_153076611 | 153070684 | CTGCTGGC others(5920): Show |
C | exon_loss_variant | HIGH | NA18982.hp2 | a0000 | a0000c0004 | a0000c0004t0006 | a0000c0004t0006g0020 | 1 | 430 | 0.0023 | -5927 | c.-50 others(9): Show |
SPRR2B | ENSG00000196805.8 | transcript | ENST00000368755.3 | protein_coding | 1/2 | 217/676 | chr1 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48547117 | TACACATG others(5917): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0130 | 1 | 178 | 0.0056 | -5924 | c.143 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | chr7 | TogoVar | |||||||
FAM3B_chr21_41311801_41362727 | 41346027 | AAAAAAAA others(5917): Show |
A | exon_loss_variant | HIGH | HG02293.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0251 | 1 | 314 | 0.0032 | -5924 | c.397 others(16): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |