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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR52E8_chr11_5851749_5862690 | 5856749 | T | A | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(166): Show |
a0000 | a0000c0002a0000c0003a0000c0006others(2): Show | a0000c0002t0000a0000c0003t0000a0000c0006t0000others(2): Show | a0000c0002t0000g0000a0000c0003t0000g0000a0000c0006t0000g0000others(2): Show | 169 | 436 | 0.3876 | 0 | c.942 others(3): Show |
p.Ter others(11): Show |
OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 942/942 | 942/942 | 314/313 | chr11 | TogoVar | ||
OR52N2_chr11_5803924_5826483 | 5821220 | T | G | stop_gained | HIGH | HG01515.hp1 HG01517.hp2 |
a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0003a0006c0008t0002g0076 | 2 | 402 | 0.0050 | 0 | c.885 others(3): Show |
p.Tyr others(4): Show |
OR52N2 | ENSG00000180988.3 | transcript | ENST00000317037.3 | protein_coding | 2/2 | 1070/1333 | 885/966 | 295/321 | chr11 | TogoVar | ||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | ||
OR5H15_chr3_98161696_98174774 | 98168999 | AT | A | frameshift_variant | HIGH | HG00323.hp2 HG00438.hp1 HG00673.hp1 others(14): Show |
a0005 | a0005c0005a0005c0018a0005c0019 | a0005c0005t0001a0005c0018t0001a0005c0019t0001 | a0005c0005t0001g0002a0005c0018t0001g0002a0005c0019t0001g0002 | 17 | 444 | 0.0383 | -1 | c.307 others(4): Show |
p.Ser others(5): Show |
OR5H15 | ENSG00000233412.6 | transcript | ENST00000641450.1 | protein_coding | 2/2 | 461/1229 | 307/942 | 103/313 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5K3_chr3_98385666_98396631 | 98391562 | G | GA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0000 | a0000c0002a0000c0009 | a0000c0002t0000a0000c0009t0000 | a0000c0002t0000g0000a0000c0009t0000g0000 | 92 | 472 | 0.1949 | 1 | c.904 others(4): Show |
p.Ile others(5): Show |
OR5K3 | ENSG00000206536.1 | transcript | ENST00000383695.1 | protein_coding | 1/1 | 905/966 | 905/966 | 302/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5K4_chr3_98348854_98359819 | 98354747 | TA | T | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0000a0008c0009t0000 | a0002c0002t0000g0000a0008c0009t0000g0000 | 103 | 452 | 0.2279 | -1 | c.901 others(4): Show |
p.Ile others(5): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 1/1 | 901/966 | 901/966 | 301/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5M10_chr11_56571774_56582721 | 56577367 | CCATTGAA others(1): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp1 HG01433.hp1 others(4): Show |
a0005 | a0005c0005 | a0005c0005t0000 | a0005c0005t0000g0000 | 7 | 438 | 0.0160 | -8 | c.347 others(15): Show |
p.Ala others(5): Show |
OR5M10 | ENSG00000254834.5 | transcript | ENST00000526538.2 | protein_coding | 1/1 | 354/948 | 347/948 | 116/315 | chr11 | TogoVar | ||
OR5M11_chr11_56537340_56548257 | 56542880 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG01433.hp1 others(5): Show |
a0004a0009 | a0004c0005a0009c0012 | a0004c0005t0000a0009c0012t0000 | a0004c0005t0000g0000a0009c0012t0000g0000 | 8 | 428 | 0.0187 | 0 | c.378 others(3): Show |
p.Tyr others(4): Show |
OR5M11 | ENSG00000255223.5 | transcript | ENST00000528616.5 | protein_coding | 1/1 | 378/918 | 378/918 | 126/305 | chr11 | TogoVar | ||
OR5M1_chr11_56604236_56619874 | 56613070 | CCAGA | C | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00642.hp2 others(62): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0002a0003c0003t0021a0003c0012t0002 | a0003c0003t0002g0002a0003c0003t0002g0011a0003c0003t0002g0013others(6): Show | 65 | 386 | 0.1684 | -4 | c.429 others(11): Show |
p.Cys others(5): Show |
OR5M1 | ENSG00000255012.3 | transcript | ENST00000641076.1 | protein_coding | 2/2 | 467/4302 | 429/948 | 143/315 | chr11 | TogoVar | ||
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0000a0002a0003others(1): Show | a0000c0002a0000c0007a0000c0014others(3): Show | a0000c0002t0000a0000c0007t0000a0000c0014t0000others(3): Show | a0000c0002t0000g0000a0000c0007t0000g0000a0000c0014t0000g0000others(3): Show | 177 | 402 | 0.4403 | 5 | c.924 others(12): Show |
p.Ser others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 928/939 | 928/939 | 310/312 | chr19 | TogoVar | ||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0000a0001c0002t0000a0001c0004t0000others(8): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0004t0000g0000others(8): Show | 351 | 437 | 0.8032 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR8K1 | ENSG00000150261.5 | transcript | ENST00000279783.5 | protein_coding | 1/1 | 2/960 | 2/960 | 1/319 | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00621.hp1 HG00642.hp1 others(24): Show |
a0004a0007 | a0004c0004a0004c0021a0007c0023 | a0004c0004t0000a0004c0021t0000a0007c0023t0000 | a0004c0004t0000g0000a0004c0021t0000g0000a0007c0023t0000g0000 | 27 | 364 | 0.0742 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0000a0001c0013t0000 | a0001c0001t0000g0000a0001c0013t0000g0000 | 130 | 364 | 0.3571 | 7605 | c.492 others(7612): Show |
p.Phe others(7618): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR9K2_chr12_55121406_55137750 | 55130775 | G | C | stop_lost | HIGH | HG01516.hp2 HG01517.hp1 |
a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0001 | 2 | 370 | 0.0054 | 0 | c.941 others(3): Show |
p.Ter others(11): Show |
OR9K2 | ENSG00000170605.7 | transcript | ENST00000641329.1 | protein_coding | 3/3 | 1145/3120 | 941/942 | 314/313 | chr12 | TogoVar | ||
OSTM1_chr6_108036409_108079741 | 108074299 | A | AG | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 HG01517.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0004a0003c0004t0005others(2): Show | a0003c0004t0001g0049a0003c0004t0001g0050a0003c0004t0001g0051others(7): Show | 10 | 388 | 0.0258 | 1 | c.352 others(4): Show |
p.Leu others(5): Show |
OSTM1 | ENSG00000081087.16 | transcript | ENST00000193322.8 | protein_coding | 1/6 | 442/4471 | 352/1005 | 118/334 | chr6 | TogoVar | ||
OTOR_chr20_16743358_16757164 | 16748403 | T | C | start_lost | HIGH | HG00280.hp1 HG01074.hp2 HG01168.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0006 | a0003c0003t0005g0059a0003c0003t0005g0060a0003c0003t0005g0139others(5): Show | 13 | 486 | 0.0268 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OTOR | ENSG00000125879.5 | transcript | ENST00000246081.3 | protein_coding | 1/4 | 46/1477 | 2/387 | 1/128 | chr20 | TogoVar | ||
PEBP4_chr8_22708251_22932914 | 22713394 | GT | G | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(74): Show |
a0003a0004a0006others(5): Show | a0003c0003a0003c0011a0003c0013others(9): Show | a0003c0003t0003a0003c0003t0004a0003c0003t0010others(15): Show | a0003c0003t0003g0034a0003c0003t0003g0036a0003c0003t0003g0040others(74): Show | 77 | 278 | 0.2770 | -1 | c.659 others(4): Show |
p.Asn others(5): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 7/7 | 757/901 | 659/684 | 220/227 | chr8 | TogoVar | ||
PIF1_chr15_64810632_64830647 | 64824191 | C | A | stop_gained | HIGH | HG00140.hp2 HG01516.hp2 HG01517.hp1 |
a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0045a0007c0011t0003g0125 | 3 | 348 | 0.0086 | 0 | c.145 others(3): Show |
p.Glu others(3): Show |
PIF1 | ENSG00000140451.13 | transcript | ENST00000559239.2 | protein_coding | 2/13 | 243/2690 | 145/1926 | 49/641 | chr15 | TogoVar | ||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(208): Show | 280 | 446 | 0.6278 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | ||
PKD1L3_chr16_71924538_72005402 | 71967237 | G | A | stop_gained | HIGH | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0004a0017others(1): Show | a0001c0001a0001c0028a0001c0062others(14): Show | a0001c0001t0001a0001c0028t0001a0001c0062t0001others(16): Show | a0001c0001t0001g0050a0001c0001t0001g0147a0001c0001t0001g0157others(84): Show | 87 | 308 | 0.2825 | 0 | c.236 others(4): Show |
p.Arg others(4): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/30 | 2789/5623 | 2365/5199 | 789/1732 | chr16 | TogoVar | ||
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(332): Show | 337 | 376 | 0.8963 | 1 | c.-24 others(6): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36306371 | T | A | stop_gained | HIGH | HG01074.hp1 HG01516.hp2 HG01517.hp1 |
a0014 | a0014c0019 | a0014c0019t0003 | a0014c0019t0003g0109a0014c0019t0003g0110a0014c0019t0003g0315 | 3 | 386 | 0.0078 | 0 | c.146 others(4): Show |
p.Tyr others(4): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 7/9 | 1864/4188 | 1464/1719 | 488/572 | chr6 | TogoVar | ||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(209): Show |
a0000 | a0000c0002a0000c0004a0000c0005others(6): Show | a0000c0002t0002a0000c0002t0003a0000c0002t0004others(25): Show | a0000c0002t0002g0003a0000c0002t0002g0007a0000c0002t0002g0014others(183): Show | 212 | 423 | 0.5012 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | ||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0022others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0034others(62): Show | 245 | 417 | 0.5875 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | chr1 | TogoVar | ||
PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(297): Show | 306 | 362 | 0.8453 | 4 | c.-48 others(15): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0005others(4): Show | a0000c0001t0002a0000c0001t0004a0000c0001t0005others(6): Show | a0000c0001t0002g0001a0000c0001t0002g0008a0000c0001t0002g0010others(100): Show | 325 | 428 | 0.7594 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | ||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(319): Show | 376 | 416 | 0.9039 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | ||
RAPH1_chr2_203428682_203540301 | 203441288 | T | TG | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(33): Show |
a0002a0006 | a0002c0005a0002c0006a0002c0012others(8): Show | a0002c0005t0002a0002c0005t0003a0002c0005t0011others(28): Show | a0002c0005t0002g0136a0002c0005t0002g0168a0002c0005t0003g0145others(33): Show | 36 | 290 | 0.1241 | 1 | c.190 others(5): Show |
p.Pro others(5): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 14/14 | 2092/9699 | 1901/3753 | 634/1250 | chr2 | TogoVar | ||
RASA4_chr7_102574646_102621756 | 102588790 | AAGTAGCT others(3162): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00733.hp2 HG01346.hp1 HG01517.hp1 others(12): Show |
a0006a0012a0029others(4): Show | a0006c0005a0006c0045a0012c0009others(5): Show | a0006c0005t0006a0006c0005t0008a0006c0005t0022others(9): Show | a0006c0005t0006g0103a0006c0005t0006g0106a0006c0005t0006g0109others(12): Show | 15 | 130 | 0.1154 | -3169 | c.183 others(18): Show |
RASA4 | ENSG00000105808.19 | transcript | ENST00000262940.12 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
RASA4_chr7_102574646_102621756 | 102592283 | A | C | splice_donor_variant others(1): Show |
HIGH | HG01517.hp1 | a0043 | a0043c0034 | a0043c0034t0017 | a0043c0034t0017g0076 | 1 | 130 | 0.0077 | 0 | c.183 others(6): Show |
RASA4 | ENSG00000105808.19 | transcript | ENST00000262940.12 | protein_coding | 16/20 | chr7 | TogoVar | ||||||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
SCRN3_chr2_174390730_174434575 | 174427852 | TTCAAATT others(6): Show |
T | frameshift_variant | HIGH | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(85): Show |
a0000 | a0000c0002a0000c0004a0000c0008 | a0000c0002t0002a0000c0002t0004a0000c0002t0012others(2): Show | a0000c0002t0002g0002a0000c0002t0002g0009a0000c0002t0002g0010others(47): Show | 88 | 364 | 0.2418 | -13 | c.125 others(22): Show |
p.Asn others(5): Show |
SCRN3 | ENSG00000144306.15 | transcript | ENST00000272732.11 | protein_coding | 8/8 | 1348/3052 | 1251/1275 | 417/424 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0005others(18): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0014others(79): Show | 204 | 422 | 0.4834 | 0 | c.268 others(3): Show |
p.Glu others(3): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 4/8 | 330/1735 | 268/1179 | 90/392 | chr18 | TogoVar | ||
SH2D1A_chrX_124341563_124378160 | 124365779 | T | A | stop_gained | HIGH | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 318 | 0.0031 | 0 | c.156 others(3): Show |
p.Tyr others(3): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 236/2236 | 156/387 | 52/128 | chrX | TogoVar | ||
SH2D1A_chrX_124341563_124378160 | 124365782 | AT | A | frameshift_variant | HIGH | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 318 | 0.0031 | -1 | c.160 others(4): Show |
p.Tyr others(4): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 240/2236 | 160/387 | 54/128 | chrX | TogoVar | ||
SH2D1A_chrX_124341563_124378160 | 124365785 | C | A | stop_gained | HIGH | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 318 | 0.0031 | 0 | c.162 others(3): Show |
p.Tyr others(3): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 242/2236 | 162/387 | 54/128 | chrX | TogoVar | ||
SH2D1A_chrX_124341563_124378160 | 124365793 | C | CT | frameshift_variant | HIGH | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 318 | 0.0031 | 1 | c.170 others(8): Show |
p.Gln others(4): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 251/2236 | 171/387 | 57/128 | chrX | TogoVar | ||
SH2D1A_chrX_124341563_124378160 | 124365795 | C | T | stop_gained | HIGH | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 318 | 0.0031 | 0 | c.172 others(3): Show |
p.Gln others(3): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 252/2236 | 172/387 | 58/128 | chrX | TogoVar | ||
SH2D1A_chrX_124341563_124378160 | 124365801 | G | T | stop_gained | HIGH | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 318 | 0.0031 | 0 | c.178 others(3): Show |
p.Glu others(3): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 258/2236 | 178/387 | 60/128 | chrX | TogoVar | ||
SH2D1A_chrX_124341563_124378160 | 124365804 | ACAGGTTC others(1): Show |
A | frameshift_variant | HIGH | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 318 | 0.0031 | -8 | c.182 others(15): Show |
p.Thr others(4): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 262/2236 | 182/387 | 61/128 | chrX | TogoVar | ||
SH2D1A_chrX_124341563_124378160 | 124365815 | G | A | stop_gained | HIGH | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 318 | 0.0031 | 0 | c.192 others(3): Show |
p.Trp others(3): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 272/2236 | 192/387 | 64/128 | chrX | TogoVar | ||
SH2D1A_chrX_124341563_124378160 | 124365822 | G | GAATGA | frameshift_variant others(2): Show |
HIGH | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 318 | 0.0031 | 5 | c.200 others(12): Show |
p.Thr others(4): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 281/2236 | 201/387 | 67/128 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SIGLEC12_chr19_51486227_51506800 | 51501649 | G | A | stop_gained | HIGH | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show |
a0003 | a0003c0006a0003c0007a0003c0009others(12): Show | a0003c0006t0001a0003c0006t0004a0003c0007t0002others(15): Show | a0003c0006t0001g0153a0003c0006t0001g0156a0003c0006t0001g0157others(29): Show | 53 | 432 | 0.1227 | 0 | c.85C others(2): Show |
p.Gln others(3): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 152/2269 | 85/1788 | 29/595 | chr19 | TogoVar | ||
SIRPB1_chr20_1556385_1625009 | 1572827 | AAGGTCAA others(33021): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00140.hp1 HG01106.hp1 HG01123.hp2 others(14): Show |
a0004a0011 | a0004c0004a0011c0024 | a0004c0004t0005a0004c0004t0020a0011c0024t0018 | a0004c0004t0005g0006a0004c0004t0005g0048a0004c0004t0005g0049others(6): Show | 17 | 364 | 0.0467 | -33028 | c.76+ others(16): Show |
SIRPB1 | ENSG00000101307.16 | transcript | ENST00000381605.9 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77698132 | T | TGG | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 2 | c.220 others(9): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 449/3009 | 222/1773 | 74/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
SLAIN1_chr13_77692687_77769229 | 77698141 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 1 | c.230 others(4): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 458/3009 | 231/1773 | 77/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
SLC13A1_chr7_123108531_123204969 | 123199913 | G | A | stop_gained | HIGH | HG01515.hp1 HG01517.hp1 HG01978.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0324a0003c0003t0001g0325a0003c0003t0001g0326 | 3 | 350 | 0.0086 | 0 | c.34C others(2): Show |
p.Arg others(3): Show |
SLC13A1 | ENSG00000081800.9 | transcript | ENST00000194130.7 | protein_coding | 1/15 | 57/3798 | 34/1788 | 12/595 | chr7 | TogoVar | ||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(160): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0001a0002c0002t0002g0004a0002c0002t0002g0005others(95): Show | 163 | 402 | 0.4055 | 0 | c.288 others(3): Show |
p.Trp others(3): Show |
SLC22A10 | ENSG00000184999.13 | transcript | ENST00000332793.11 | protein_coding | 1/10 | 551/2638 | 288/1626 | 96/541 | chr11 | TogoVar | ||
SLC22A14_chr3_38277294_38323575 | 38307655 | ATTTG | A | frameshift_variant | HIGH | HG01346.hp2 HG01515.hp1 HG01516.hp1 others(2): Show |
a0012 | a0012c0015a0012c0031 | a0012c0015t0001a0012c0031t0002 | a0012c0015t0001g0010a0012c0015t0001g0085a0012c0015t0001g0095others(1): Show | 5 | 406 | 0.0123 | -4 | c.713 others(11): Show |
p.Leu others(5): Show |
SLC22A14 | ENSG00000144671.11 | transcript | ENST00000448498.6 | protein_coding | 4/11 | 759/2157 | 713/1785 | 238/594 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(263): Show | 268 | 366 | 0.7322 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar |