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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMFR_chr16_56356452_56430545 | 56425436 | T | TGCCGCTG others(32): Show |
5_prime_UTR_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0006 | a0001c0006t0055 | a0001c0006t0055g0349 | 1 | 347 | 0.0029 | 39 | c.-11 others(48): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 110 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425436 | T | TGCCGCTG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0348 | 1 | 347 | 0.0029 | 21 | c.-11 others(30): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 110 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425436 | T | TGCCGCTG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0343 | 1 | 347 | 0.0029 | 21 | c.-11 others(30): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 110 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425442 | C | T | 5_prime_UTR_variant | MODIFIER | HG03098.hp2 NA18979.hp1 NA18981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0030a0001c0001t0056others(1): Show | a0001c0001t0017g0350 a0001c0001t0017g0352 a0001c0001t0017g0353 others(4): Show |
7 | 354 | 0.0198 | 0 | c.-11 others(4): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 115 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425448 | C | T | 5_prime_UTR_variant | MODIFIER | NA18979.hp1 NA18981.hp2 NA18983.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0056a0001c0001t0057 | a0001c0001t0017g0350 a0001c0001t0017g0352 a0001c0001t0017g0353 others(3): Show |
6 | 354 | 0.0169 | 0 | c.-12 others(4): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 121 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425452 | G | GCTGCCGC others(18): Show |
5_prime_UTR_variant | MODIFIER | NA18979.hp1 NA18981.hp2 NA18983.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0056a0001c0001t0057 | a0001c0001t0017g0350 a0001c0001t0017g0352 a0001c0001t0017g0353 others(3): Show |
6 | 354 | 0.0169 | 25 | c.-12 others(34): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 126 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425458 | G | C | 5_prime_UTR_variant | MODIFIER | NA18979.hp1 NA18981.hp2 NA18983.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0056a0001c0001t0057 | a0001c0001t0017g0350 a0001c0001t0017g0352 a0001c0001t0017g0353 others(3): Show |
6 | 354 | 0.0169 | 0 | c.-13 others(4): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 131 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425460 | C | T | 5_prime_UTR_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0002 | 1 | 354 | 0.0028 | 0 | c.-13 others(4): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 133 | chr16 | TogoVar | ||||||
AMH_chr19_2244323_2257073 | 2249324 | G | A | 5_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0002 |
7 | 430 | 0.0163 | 0 | c.-9G others(2): Show |
AMH | ENSG00000104899.8 | transcript | ENST00000221496.5 | protein_coding | 1/5 | 9 | chr19 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109509517 | A | G | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(238): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0028 others(17): Show |
241 | 398 | 0.6055 | 0 | c.-18 others(4): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1/2 | 605 | chr1 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109509585 | C | T | 5_prime_UTR_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0018 | 1 | 398 | 0.0025 | 0 | c.-25 others(4): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1/2 | 673 | chr1 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109509675 | G | C | 5_prime_UTR_variant | MODIFIER | HG00544.hp1 HG01978.hp2 HG04199.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0006 a0001c0001t0012g0014 |
13 | 398 | 0.0327 | 0 | c.-34 others(4): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1/2 | 763 | chr1 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109509714 | T | A | 5_prime_UTR_variant | MODIFIER | NA18940.hp2 NA18973.hp1 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0012 | 4 | 398 | 0.0101 | 0 | c.-38 others(4): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1/2 | 802 | chr1 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079026 | C | T | 5_prime_UTR_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01169.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0006 a0001c0001t0006g0008 |
28 | 478 | 0.0586 | 0 | c.-24 others(3): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 3/3 | 24 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079027 | C | T | 5_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0019 | a0001c0001t0009g0010 a0001c0001t0019g0028 |
7 | 478 | 0.0146 | 0 | c.-25 others(3): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 3/3 | 25 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079173 | G | A | 5_prime_UTR_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01169.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0006 a0001c0001t0006g0008 |
28 | 478 | 0.0586 | 0 | c.-95 others(3): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 2/3 | 171 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079179 | T | C | 5_prime_UTR_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 478 | 0.0021 | 0 | c.-10 others(4): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 2/3 | 177 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079559 | T | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(133): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0010others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0017 a0001c0001t0005g0006 a0001c0001t0006g0008 others(10): Show |
136 | 478 | 0.2845 | 0 | c.-26 others(4): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 1/3 | 557 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079649 | G | C | 5_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0031 | 1 | 478 | 0.0021 | 0 | c.-35 others(4): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 1/3 | 647 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079790 | G | A | 5_prime_UTR_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0032 | 1 | 478 | 0.0021 | 0 | c.-49 others(4): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 1/3 | 788 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079876 | C | T | 5_prime_UTR_variant | MODIFIER | HG01175.hp1 HG01192.hp2 HG01884.hp1 others(9): Show |
a0001a0005 | a0001c0004a0001c0005a0005c0007 | a0001c0004t0008a0001c0005t0007a0005c0007t0007 | a0001c0004t0008g0009 a0001c0005t0007g0011 a0005c0007t0007g0022 |
12 | 478 | 0.0251 | 0 | c.-58 others(4): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 1/3 | 874 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079895 | C | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(474): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0017 others(28): Show |
477 | 478 | 0.9979 | 0 | c.-60 others(4): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 1/3 | 893 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079898 | G | A | 5_prime_UTR_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0021 | 1 | 478 | 0.0021 | 0 | c.-60 others(4): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 1/3 | 896 | chr12 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079943 | A | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp2 others(100): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0010others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0015others(3): Show | a0001c0001t0002g0017 a0001c0002t0002g0001 a0001c0002t0002g0013 others(4): Show |
103 | 478 | 0.2155 | 0 | c.-65 others(4): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 1/3 | 941 | chr12 | TogoVar | ||||||
AMIGO3_chr3_49711829_49724684 | 49719653 | G | C | 5_prime_UTR_variant | MODIFIER | HG00642.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 2 | 332 | 0.0060 | 0 | c.-18 others(4): Show |
AMIGO3 | ENSG00000176020.9 | transcript | ENST00000320431.8 | protein_coding | 1/1 | 188 | chr3 | TogoVar | ||||||
AMN_chr14_102917663_102935842 | 102922666 | G | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(124): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(59): Show |
127 | 450 | 0.2822 | 0 | c.-23 others(3): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 1/12 | 23 | chr14 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94768444 | G | A | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01106.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0005a0001c0001t0030a0001c0002t0031others(1): Show | a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0043 others(7): Show |
10 | 244 | 0.0410 | 0 | c.-68 others(3): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 1/13 | 68 | chr11 | TogoVar | ||||||
AMOTL2_chr3_134350347_134379447 | 134374373 | GAC | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(173): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(73): Show |
176 | 334 | 0.5269 | -2 | c.-95 others(9): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/10 | 2941 | chr3 | TogoVar | ||||||
AMOTL2_chr3_134350347_134379447 | 134374431 | C | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG03654.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0002c0002t0019 | a0001c0001t0018g0047 a0002c0002t0019g0046 |
2 | 334 | 0.0060 | 0 | c.-15 others(4): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/10 | 2998 | chr3 | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112823159 | G | A | 5_prime_UTR_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0199 | 1 | 268 | 0.0037 | 0 | c.-33 others(3): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 4/14 | 33 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112823169 | G | A | 5_prime_UTR_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0224 | 1 | 268 | 0.0037 | 0 | c.-43 others(3): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 4/14 | 43 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112832333 | C | G | 5_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG02027.hp1 others(30): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0003a0001c0001t0011a0001c0001t0018others(3): Show | a0001c0001t0003g0002 a0001c0001t0003g0049 a0001c0001t0003g0050 others(28): Show |
33 | 268 | 0.1231 | 0 | c.-25 others(4): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 2/14 | 9207 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112840672 | G | A | 5_prime_UTR_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0260 | 1 | 268 | 0.0037 | 0 | c.-50 others(4): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 1/14 | 17546 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112840712 | G | A | 5_prime_UTR_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0261 | 1 | 268 | 0.0037 | 0 | c.-54 others(4): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 1/14 | 17586 | chrX | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114695473 | G | A | 5_prime_UTR_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 356 | 0.0028 | 0 | c.-2C others(2): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 1/16 | 2 | chr1 | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114695513 | G | A | 5_prime_UTR_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 356 | 0.0028 | 0 | c.-42 others(3): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 1/16 | 42 | chr1 | TogoVar | ||||||
AMPD2_chr1_109614837_109637051 | 109619869 | G | C | 5_prime_UTR_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 386 | 0.0026 | 0 | c.-67 others(4): Show |
AMPD2 | ENSG00000116337.20 | transcript | ENST00000528667.7 | protein_coding | 1/19 | 1307 | chr1 | TogoVar | ||||||
AMPD2_chr1_109614837_109637051 | 109620256 | G | A | 5_prime_UTR_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 | 1 | 386 | 0.0026 | 0 | c.-28 others(4): Show |
AMPD2 | ENSG00000116337.20 | transcript | ENST00000528667.7 | protein_coding | 1/19 | 920 | chr1 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10455351 | T | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(41): Show | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0027 others(261): Show |
284 | 388 | 0.7320 | 0 | c.-10 others(4): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 1/15 | 6169 | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10455366 | G | T | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0028others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 others(39): Show |
47 | 388 | 0.1211 | 0 | c.-88 others(3): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 1/15 | 6154 | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10455372 | T | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0020others(14): Show | a0001c0001t0005g0183 a0001c0001t0005g0190 a0001c0001t0016g0130 others(29): Show |
32 | 388 | 0.0825 | 0 | c.-82 others(3): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 1/15 | 6148 | chr11 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70518615 | G | A | 5_prime_UTR_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0004 | 1 | 456 | 0.0022 | 0 | c.-55 others(3): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 1/9 | 163 | chr4 | TogoVar | ||||||
AMT_chr3_49411778_49427473 | 49422451 | C | T | 5_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0018 | 1 | 356 | 0.0028 | 0 | c.-1G others(2): Show |
AMT | ENSG00000145020.16 | transcript | ENST00000273588.9 | protein_coding | 1/9 | 1 | chr3 | TogoVar | ||||||
AMY1A_chr1_103650760_103669554 | 103655866 | T | C | 5_prime_UTR_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 230 | 0.0043 | 0 | c.-10 others(4): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 1/11 | 465 | chr1 | TogoVar | ||||||
AMY1A_chr1_103650760_103669554 | 103655886 | G | A | 5_prime_UTR_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 230 | 0.0043 | 0 | c.-89 others(3): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 1/11 | 445 | chr1 | TogoVar | ||||||
AMY1A_chr1_103650760_103669554 | 103656294 | T | C | 5_prime_UTR_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 230 | 0.0043 | 0 | c.-37 others(3): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 2/11 | 37 | chr1 | TogoVar | ||||||
AMY1B_chr1_103682415_103701210 | 103696141 | G | A | 5_prime_UTR_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 160 | 0.0063 | 0 | c.-14 others(4): Show |
AMY1B | ENSG00000174876.17 | transcript | ENST00000330330.10 | protein_coding | 1/11 | 502 | chr1 | TogoVar | ||||||
AMY1C_chr1_103744898_103763692 | 103750055 | G | A | 5_prime_UTR_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 340 | 0.0029 | 0 | c.-58 others(3): Show |
AMY1C | ENSG00000187733.7 | transcript | ENST00000622339.5 | protein_coding | 1/11 | 415 | chr1 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2700378 | C | T | 5_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0018 | a0001c0018t0148 | a0001c0018t0148g0038 | 1 | 436 | 0.0023 | 0 | c.-74 others(3): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 2/7 | 74 | chr7 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2700381 | T | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(273): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(113): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(260): Show |
276 | 436 | 0.6330 | 0 | c.-71 others(3): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 2/7 | 71 | chr7 | TogoVar |