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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASIC2_chr17_33008087_33298295 | 33292648 | G | C | 5_prime_UTR_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0085 | 1 | 238 | 0.0042 | 0 | c.-53 others(4): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/10 | 533 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33292669 | C | T | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0012a0001c0002t0015a0001c0002t0025others(1): Show | a0001c0002t0012g0086 a0001c0002t0012g0088 a0001c0002t0015g0089 others(3): Show |
6 | 238 | 0.0252 | 0 | c.-55 others(4): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/10 | 554 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33292727 | G | C | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(136): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0026a0001c0002t0001a0001c0002t0002others(28): Show | a0001c0001t0026g0092 a0001c0002t0001g0097 a0001c0002t0001g0110 others(135): Show |
139 | 238 | 0.5840 | 0 | c.-61 others(4): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/10 | 612 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33292728 | G | C | 5_prime_UTR_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0223 | 1 | 238 | 0.0042 | 0 | c.-61 others(4): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/10 | 613 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33293011 | A | G | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(220): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(46): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(219): Show |
223 | 238 | 0.9370 | 0 | c.-89 others(4): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/10 | 896 | chr17 | TogoVar | ||||||
ASIC3_chr7_151043531_151057754 | 151048541 | G | GCGCCGGC others(7): Show |
5_prime_UTR_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 416 | 0.0024 | 14 | c.-32 others(23): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 313 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASIC3_chr7_151043531_151057754 | 151048623 | G | A | 5_prime_UTR_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 416 | 0.0024 | 0 | c.-26 others(4): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 263 | chr7 | TogoVar | ||||||
ASIC3_chr7_151043531_151057754 | 151048632 | A | C | 5_prime_UTR_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002 | 1 | 416 | 0.0024 | 0 | c.-25 others(4): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 254 | chr7 | TogoVar | ||||||
ASIC3_chr7_151043531_151057754 | 151048633 | G | A | 5_prime_UTR_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002 | 1 | 416 | 0.0024 | 0 | c.-25 others(4): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 253 | chr7 | TogoVar | ||||||
ASIC3_chr7_151043531_151057754 | 151048634 | C | G | 5_prime_UTR_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002 | 1 | 416 | 0.0024 | 0 | c.-25 others(4): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 252 | chr7 | TogoVar | ||||||
ASIC3_chr7_151043531_151057754 | 151048703 | T | A | 5_prime_UTR_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 416 | 0.0024 | 0 | c.-18 others(4): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 183 | chr7 | TogoVar | ||||||
ASIC3_chr7_151043531_151057754 | 151048785 | C | T | 5_prime_UTR_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 416 | 0.0024 | 0 | c.-10 others(4): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 101 | chr7 | TogoVar | ||||||
ASIC3_chr7_151043531_151057754 | 151048869 | G | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 2 | 416 | 0.0048 | 0 | c.-17 others(3): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 1/11 | 17 | chr7 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219514470 | AAGGAGAC others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0152 | 1 | 370 | 0.0027 | -12 | c.-24 others(21): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/10 | 237 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASIC4_chr2_219509482_219543772 | 219514662 | G | C | 5_prime_UTR_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0001 | 1 | 370 | 0.0027 | 0 | c.-63 others(3): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/10 | 63 | chr2 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34241480 | G | A | 5_prime_UTR_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 304 | 0.0033 | 0 | c.-20 others(3): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/4 | 18895 | chr20 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1615101 | T | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(155): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(153): Show |
158 | 221 | 0.7149 | 0 | c.-99 others(3): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/9 | 99 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1615107 | C | G | 5_prime_UTR_variant | MODIFIER | HG03831.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0147 | 1 | 221 | 0.0045 | 0 | c.-93 others(3): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/9 | 93 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1615137 | C | G | 5_prime_UTR_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 221 | 0.0045 | 0 | c.-63 others(3): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/9 | 63 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1615158 | C | T | 5_prime_UTR_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0164 | 1 | 221 | 0.0045 | 0 | c.-42 others(3): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/9 | 42 | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189661479 | C | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(170): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 others(33): Show |
173 | 338 | 0.5118 | 0 | c.-35 others(4): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 1/6 | 4654 | chr2 | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665403 | A | C | 5_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0006 | a0006c0012 | a0006c0012t0006 | a0006c0012t0006g0054 | 1 | 338 | 0.0030 | 0 | c.-14 others(4): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/6 | 730 | chr2 | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189666109 | T | C | 5_prime_UTR_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 338 | 0.0030 | 0 | c.-24 others(3): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 4/6 | 24 | chr2 | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189666120 | A | G | 5_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0006 | a0006c0012 | a0006c0012t0006 | a0006c0012t0006g0054 | 1 | 338 | 0.0030 | 0 | c.-13 others(3): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 4/6 | 13 | chr2 | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97872405 | G | C | 5_prime_UTR_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0232 | 1 | 434 | 0.0023 | 0 | c.-11 others(4): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 1/13 | 3249 | chr7 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3476046 | A | G | 5_prime_UTR_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0065 | 1 | 448 | 0.0022 | 0 | c.-11 others(4): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 1/6 | 114 | chr17 | TogoVar | ||||||
ASPA_chr17_3470997_3508405 | 3476065 | G | A | 5_prime_UTR_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0106 | 1 | 448 | 0.0022 | 0 | c.-95 others(3): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 1/6 | 95 | chr17 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50513896 | G | A | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 370 | 0.0027 | 0 | c.-73 others(3): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 1/7 | 73 | chr19 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104085711 | C | G | 5_prime_UTR_variant | MODIFIER | HG01074.hp1 HG02109.hp2 HG02622.hp1 others(6): Show |
a0002a0007 | a0002c0003a0002c0013a0007c0014 | a0002c0003t0016a0002c0003t0017a0002c0003t0037others(3): Show | a0002c0003t0016g0158 a0002c0003t0016g0160 a0002c0003t0016g0163 others(6): Show |
9 | 366 | 0.0246 | 0 | c.-60 others(3): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 1/16 | 60 | chr14 | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29900492 | G | A | 5_prime_UTR_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 392 | 0.0026 | 0 | c.-48 others(4): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/3 | 480 | chr16 | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29900495 | T | G | 5_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0003 |
2 | 392 | 0.0051 | 0 | c.-47 others(4): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/3 | 477 | chr16 | TogoVar | ||||||
ASPHD1_chr16_29895488_29911056 | 29900594 | T | TAGG | 5_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0049 others(1): Show |
7 | 392 | 0.0179 | 3 | c.-37 others(12): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/3 | 372 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ASPHD1_chr16_29895488_29911056 | 29900906 | G | A | 5_prime_UTR_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 392 | 0.0026 | 0 | c.-66 others(3): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/3 | 66 | chr16 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26429290 | A | G | 5_prime_UTR_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0035 | 3 | 426 | 0.0070 | 0 | c.-42 others(4): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 1/4 | 4326 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26429384 | A | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(372): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(195): Show |
375 | 426 | 0.8803 | 0 | c.-32 others(4): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 1/4 | 4232 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26429440 | G | A | 5_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0136 | 1 | 426 | 0.0023 | 0 | c.-27 others(4): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 1/4 | 4176 | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26429444 | G | T | 5_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0013 | 1 | 426 | 0.0023 | 0 | c.-26 others(4): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 1/4 | 4172 | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61714387 | G | A | 5_prime_UTR_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0256 | 1 | 256 | 0.0039 | 0 | c.-16 others(3): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/25 | 16 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61714403 | C | T | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp1 others(192): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(191): Show |
195 | 256 | 0.7617 | 0 | c.-32 others(3): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/25 | 32 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61714424 | G | A | 5_prime_UTR_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0257 | 1 | 256 | 0.0039 | 0 | c.-53 others(3): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/25 | 53 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61714445 | A | C | 5_prime_UTR_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0195 | 1 | 62 | 0.0161 | 0 | c.-74 others(3): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/25 | 74 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61714445 | A | G | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp1 others(191): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(190): Show |
194 | 255 | 0.7608 | 0 | c.-74 others(3): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/25 | 74 | chr8 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61714548 | C | G | 5_prime_UTR_variant | MODIFIER | HG01106.hp2 HG01167.hp2 HG01517.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0012a0001c0001t0015a0001c0001t0018others(2): Show | a0001c0001t0012g0006 a0001c0001t0012g0007 a0001c0001t0012g0008 others(6): Show |
9 | 256 | 0.0352 | 0 | c.-17 others(4): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/25 | 177 | chr8 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197146446 | C | A | 5_prime_UTR_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0211 | 1 | 294 | 0.0034 | 0 | c.-9G others(2): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1/28 | 9 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197146547 | G | A | 5_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02717.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0038 a0006c0006t0005g0212 a0006c0006t0005g0213 |
4 | 294 | 0.0136 | 0 | c.-11 others(4): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1/28 | 110 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197146551 | G | T | 5_prime_UTR_variant | MODIFIER | HG02523.hp2 NA18612.hp2 NA18945.hp1 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0017 a0004c0005t0003g0039 a0004c0005t0003g0040 others(3): Show |
7 | 294 | 0.0238 | 0 | c.-11 others(4): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1/28 | 114 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197146614 | C | T | 5_prime_UTR_variant | MODIFIER | HG02523.hp2 NA18612.hp2 NA18945.hp1 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0017 a0004c0005t0003g0039 a0004c0005t0003g0040 others(3): Show |
7 | 294 | 0.0238 | 0 | c.-17 others(4): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1/28 | 177 | chr1 | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197146634 | A | G | 5_prime_UTR_variant | MODIFIER | HG02723.hp2 NA20129.hp2 |
a0010 | a0010c0009 | a0010c0009t0006 | a0010c0009t0006g0016 | 2 | 294 | 0.0068 | 0 | c.-19 others(4): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1/28 | 197 | chr1 | TogoVar | ||||||
ASPRV1_chr2_69955089_69966631 | 69961488 | C | T | 5_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0000 | 2 | 462 | 0.0043 | 0 | c.-52 others(3): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 1/1 | 52 | chr2 | TogoVar | ||||||
ASPRV1_chr2_69955089_69966631 | 69961503 | C | T | 5_prime_UTR_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0000 | 1 | 462 | 0.0022 | 0 | c.-67 others(3): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 1/1 | 67 | chr2 | TogoVar |