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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AQP7_chr9_33378191_33407568 | 33387535 | A | AACACAC | intron_variant | MODIFIER | HG00621.hp2 HG02071.hp2 NA18939.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0178 a0001c0001t0001g0312 a0001c0001t0003g0042 others(9): Show |
13 | 400 | 0.0325 | 6 | c.145 others(21): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
AQP9_chr15_58133381_58190911 | 58147890 | G | GCACACA | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01255.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0041 others(18): Show |
25 | 292 | 0.0856 | 6 | c.111 others(23): Show |
AQP9 | ENSG00000103569.11 | transcript | ENST00000219919.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AQP9_chr15_58133381_58190911 | 58171834 | G | GATCATC | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp2 HG02015.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(1): Show | a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0003g0212 others(5): Show |
8 | 293 | 0.0273 | 6 | c.239 others(23): Show |
AQP9 | ENSG00000103569.11 | transcript | ENST00000219919.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AQP9_chr15_58133381_58190911 | 58179509 | A | ATGTGTG | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01515.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0032a0003c0005t0003 | a0001c0001t0001g0049 a0001c0001t0001g0102 a0001c0001t0001g0194 others(8): Show |
11 | 118 | 0.0932 | 6 | c.713 others(21): Show |
AQP9 | ENSG00000103569.11 | transcript | ENST00000219919.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34893607 | G | GCACACA | intron_variant | MODIFIER | HG02148.hp1 NA18949.hp1 NA18951.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0024others(2): Show | a0001c0001t0002g0186 a0001c0001t0002g0205 a0001c0001t0002g0216 others(8): Show |
11 | 151 | 0.0728 | 6 | c.257 others(21): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 23/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34893607 | G | GCACGCA | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0113 a0001c0001t0003g0012 a0001c0001t0003g0072 others(1): Show |
4 | 144 | 0.0278 | 6 | c.257 others(21): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 23/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34958974 | T | TATATAG | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG02165.hp2 others(6): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0002g0189 a0001c0001t0002g0278 a0001c0001t0010g0272 others(6): Show |
9 | 39 | 0.2308 | 6 | c.173 others(23): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 3/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34973263 | A | AAACAAC | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01243.hp2 others(14): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0002t0007a0001c0002t0041others(6): Show | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0002t0007g0251 others(13): Show |
17 | 131 | 0.1298 | 6 | c.-36 others(17): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 3522 | chr15 | TogoVar | |||||||
ARAP1_chr11_72680069_72757408 | 72703407 | C | CCGGGGG | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp2 HG01943.hp2 others(38): Show |
a0001a0005a0017 | a0001c0002a0001c0030a0005c0010others(1): Show | a0001c0002t0001a0001c0030t0001a0005c0010t0002others(1): Show | a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0018 others(33): Show |
41 | 352 | 0.1165 | 6 | c.199 others(23): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 14/34 | chr11 | TogoVar | |||||||
ARAP1_chr11_72680069_72757408 | 72703415 | G | GGGGGGC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(15): Show |
a0001a0019 | a0001c0002a0019c0021 | a0001c0002t0001a0019c0021t0001 | a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0040 others(12): Show |
18 | 212 | 0.0849 | 6 | c.199 others(23): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 14/34 | chr11 | TogoVar | |||||||
ARAP1_chr11_72680069_72757408 | 72754863 | C | CGGTCCT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0002c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0083 others(22): Show |
26 | 340 | 0.0765 | 6 | c.-26 others(17): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 2456 | chr11 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36062633 | A | AGAGTGT | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0001 a0001c0005t0001g0002 |
4 | 165 | 0.0242 | 6 | c.*52 others(17): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 3370 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36062633 | A | AGTGTGT | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02015.hp2 HG02818.hp2 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0003g0118 a0001c0001t0007g0007 a0001c0002t0001g0017 others(4): Show |
7 | 168 | 0.0417 | 6 | c.*52 others(17): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 3370 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36128477 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(88): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0082 others(88): Show |
91 | 120 | 0.7583 | 6 | c.364 others(21): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 21/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36136783 | A | ATGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG01257.hp2 others(17): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0040 others(16): Show |
20 | 209 | 0.0957 | 6 | c.326 others(25): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36136816 | T | TGTGTGC | intron_variant | MODIFIER | HG02647.hp2 HG03098.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0272 |
3 | 158 | 0.0190 | 6 | c.326 others(25): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36140139 | T | TACACAC | intron_variant | MODIFIER | HG01167.hp1 HG01928.hp1 HG02080.hp1 others(12): Show |
a0001a0008a0014 | a0001c0001a0001c0005a0008c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0050 others(12): Show |
15 | 69 | 0.2174 | 6 | c.326 others(25): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141655182 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(46): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0005a0001c0006others(8): Show | a0001c0003t0001a0001c0005t0001a0001c0006t0001others(8): Show | a0001c0003t0001g0214 a0001c0003t0001g0239 a0001c0003t0001g0247 others(30): Show |
49 | 112 | 0.4375 | 6 | c.414 others(23): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 32/32 | chr5 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141655225 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00733.hp2 others(52): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0001c0006others(13): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0005others(14): Show | a0001c0002t0001g0005 a0001c0002t0001g0055 a0001c0002t0001g0056 others(37): Show |
55 | 237 | 0.2321 | 6 | c.414 others(23): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 32/32 | chr5 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141677780 | T | TTTTTTG | intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG01169.hp2 others(17): Show |
a0001a0008a0018 | a0001c0007a0001c0008a0001c0051others(2): Show | a0001c0007t0001a0001c0008t0001a0001c0051t0001others(2): Show | a0001c0007t0001g0016 a0001c0007t0001g0021 a0001c0007t0001g0022 others(12): Show |
20 | 414 | 0.0483 | 6 | c.698 others(23): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 4/32 | chr5 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141683105 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0183 a0001c0002t0001g0005 others(1): Show |
4 | 171 | 0.0234 | 6 | c.-95 others(15): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 876 | chr5 | TogoVar | |||||||
ARCN1_chr11_118567409_118608033 | 118575411 | G | GGTGTGT | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007a0001c0002t0022 | a0001c0002t0006g0021 a0001c0002t0006g0121 a0001c0002t0006g0122 others(4): Show |
8 | 231 | 0.0346 | 6 | c.3+2 others(19): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARCN1_chr11_118567409_118608033 | 118589020 | A | AAACAAC | intron_variant | MODIFIER | HG01074.hp1 HG02451.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0022 | a0001c0002t0004g0301 a0001c0002t0004g0302 a0001c0002t0004g0303 others(2): Show |
5 | 260 | 0.0192 | 6 | c.819 others(23): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AREG_chr4_74440136_74460005 | 74441442 | T | TTATATA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00609.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(8): Show |
16 | 77 | 0.2078 | 6 | c.-39 others(17): Show |
AREG | ENSG00000109321.11 | transcript | ENST00000395748.8 | protein_coding | 3693 | chr4 | TogoVar | |||||||
AREG_chr4_74440136_74460005 | 74443735 | G | GTTATTA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00621.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(7): Show |
37 | 289 | 0.1280 | 6 | c.-16 others(17): Show |
AREG | ENSG00000109321.11 | transcript | ENST00000395748.8 | protein_coding | 1400 | chr4 | TogoVar | |||||||
AREG_chr4_74440136_74460005 | 74443740 | T | TATTATC | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02602.hp1 HG03710.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0002t0001g0003 others(2): Show |
11 | 426 | 0.0258 | 6 | c.-16 others(17): Show |
AREG | ENSG00000109321.11 | transcript | ENST00000395748.8 | protein_coding | 1395 | chr4 | TogoVar | |||||||
AREG_chr4_74440136_74460005 | 74443749 | T | TATCATC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(123): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(21): Show |
126 | 408 | 0.3088 | 6 | c.-15 others(17): Show |
AREG | ENSG00000109321.11 | transcript | ENST00000395748.8 | protein_coding | 1386 | chr4 | TogoVar | |||||||
AREG_chr4_74440136_74460005 | 74449905 | G | GCTCTCT | intron_variant | MODIFIER | HG01261.hp1 HG02602.hp2 HG02735.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0004 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0040 others(3): Show |
13 | 119 | 0.1092 | 6 | c.513 others(21): Show |
AREG | ENSG00000109321.11 | transcript | ENST00000395748.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AREL1_chr14_74656256_74718080 | 74699348 | G | GGTGTGT | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG02451.hp2 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0007a0001c0005t0009 | a0001c0001t0004g0013 a0001c0001t0004g0049 a0001c0001t0004g0050 others(10): Show |
14 | 313 | 0.0447 | 6 | c.-33 others(25): Show |
AREL1 | ENSG00000119682.18 | transcript | ENST00000356357.9 | protein_coding | 1/19 | chr14 | TogoVar | |||||||
ARF1_chr1_228077708_228104212 | 228082875 | C | CGCGGCG | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01074.hp2 others(35): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0110 others(6): Show |
38 | 428 | 0.0888 | 6 | c.-38 others(21): Show |
ARF1 | ENSG00000143761.17 | transcript | ENST00000272102.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARF1_chr1_228077708_228104212 | 228104031 | T | TAATGAC | downstream_gene_variant | MODIFIER | HG03486.hp1 HG03540.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0102 |
3 | 428 | 0.0070 | 6 | c.*60 others(17): Show |
ARF1 | ENSG00000143761.17 | transcript | ENST00000272102.10 | protein_coding | 4820 | chr1 | TogoVar | |||||||
ARF3_chr12_48930723_48962487 | 48931128 | T | TAAAAAA | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00735.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0022 others(13): Show |
32 | 83 | 0.3855 | 6 | c.*78 others(17): Show |
ARF3 | ENSG00000134287.10 | transcript | ENST00000256682.9 | protein_coding | 4594 | chr12 | TogoVar | |||||||
ARF3_chr12_48930723_48962487 | 48932168 | A | AATATAT | downstream_gene_variant | MODIFIER | HG02015.hp2 HG02083.hp1 HG02165.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0042 a0001c0001t0002g0111 |
8 | 244 | 0.0328 | 6 | c.*67 others(17): Show |
ARF3 | ENSG00000134287.10 | transcript | ENST00000256682.9 | protein_coding | 3554 | chr12 | TogoVar | |||||||
ARF3_chr12_48930723_48962487 | 48932221 | A | ATATATT | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01346.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(3): Show |
14 | 346 | 0.0405 | 6 | c.*67 others(17): Show |
ARF3 | ENSG00000134287.10 | transcript | ENST00000256682.9 | protein_coding | 3501 | chr12 | TogoVar | |||||||
ARF3_chr12_48930723_48962487 | 48960067 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG02109.hp1 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0003t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(5): Show |
14 | 165 | 0.0848 | 6 | c.-28 others(17): Show |
ARF3 | ENSG00000134287.10 | transcript | ENST00000256682.9 | protein_coding | 2581 | chr12 | TogoVar | |||||||
ARF4_chr3_57566363_57602344 | 57579253 | C | CAAAAAA | intron_variant | MODIFIER | HG01433.hp2 HG02132.hp2 HG02135.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0044 others(24): Show |
38 | 39 | 0.9744 | 6 | c.259 others(23): Show |
ARF4 | ENSG00000168374.11 | transcript | ENST00000303436.11 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
ARF5_chr7_127583411_127596700 | 127594160 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01070.hp2 HG01243.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show |
34 | 131 | 0.2595 | 6 | c.*28 others(17): Show |
ARF5 | ENSG00000004059.11 | transcript | ENST00000000233.10 | protein_coding | 2461 | chr7 | TogoVar | |||||||
ARF5_chr7_127583411_127596700 | 127594248 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02080.hp1 HG03017.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0005g0003 |
15 | 294 | 0.0510 | 6 | c.*29 others(17): Show |
ARF5 | ENSG00000004059.11 | transcript | ENST00000000233.10 | protein_coding | 2549 | chr7 | TogoVar | |||||||
ARFGAP1_chr20_63267813_63294790 | 63274311 | A | ACCCCCC | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(43): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0012 others(28): Show |
46 | 60 | 0.7667 | 6 | c.-4- others(21): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGAP3_chr22_42791502_42862273 | 42838275 | C | CACATAT | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 a0001c0003t0002g0040 a0001c0003t0002g0041 others(3): Show |
7 | 316 | 0.0222 | 6 | c.261 others(23): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 3/15 | chr22 | TogoVar | |||||||
ARFGAP3_chr22_42791502_42862273 | 42838275 | C | CATATAT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00642.hp1 others(36): Show |
a0001 | a0001c0003a0001c0011a0001c0015 | a0001c0003t0002a0001c0011t0001a0001c0015t0016 | a0001c0003t0002g0004 a0001c0003t0002g0035 a0001c0003t0002g0036 others(35): Show |
39 | 348 | 0.1121 | 6 | c.261 others(23): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 3/15 | chr22 | TogoVar | |||||||
ARFGAP3_chr22_42791502_42862273 | 42838290 | A | ATATATT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00741.hp2 others(13): Show |
a0001 | a0001c0003a0001c0014 | a0001c0003t0002a0001c0003t0008a0001c0014t0002 | a0001c0003t0002g0038 a0001c0003t0002g0054 a0001c0003t0002g0058 others(13): Show |
16 | 169 | 0.0947 | 6 | c.261 others(23): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 3/15 | chr22 | TogoVar | |||||||
ARFGAP3_chr22_42791502_42862273 | 42838290 | A | ATATTTT | intron_variant | MODIFIER | HG00408.hp1 HG01952.hp1 HG02080.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0009 | a0001c0003t0002g0076 a0001c0003t0002g0091 a0001c0003t0002g0092 others(5): Show |
8 | 161 | 0.0497 | 6 | c.261 others(23): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 3/15 | chr22 | TogoVar | |||||||
ARFGAP3_chr22_42791502_42862273 | 42849473 | T | TTTTGGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(73): Show |
a0001 | a0001c0003a0001c0011a0001c0014others(1): Show | a0001c0003t0002a0001c0003t0009a0001c0011t0001others(2): Show | a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0035 others(71): Show |
76 | 360 | 0.2111 | 6 | c.70- others(21): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67258818 | T | TACACAC | intron_variant | MODIFIER | HG02559.hp2 HG02738.hp2 HG03017.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0099 others(13): Show |
16 | 116 | 0.1379 | 6 | c.223 others(23): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 15/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67310089 | C | CCCCTCT | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 HG02897.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0066 a0001c0003t0004g0203 a0001c0003t0004g0204 |
3 | 206 | 0.0146 | 6 | c.125 others(23): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 1/38 | chr8 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48918076 | T | TATATAC | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01346.hp1 HG01433.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 a0001c0002t0001g0176 a0001c0002t0001g0194 |
3 | 117 | 0.0256 | 6 | c.-38 others(17): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 3634 | chr20 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48961083 | T | TATAATA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01106.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0015a0001c0003t0001 | a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0318 others(2): Show |
5 | 201 | 0.0249 | 6 | c.839 others(23): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48963175 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00738.hp2 others(45): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0173 a0001c0001t0002g0219 a0001c0001t0002g0220 others(45): Show |
48 | 254 | 0.1890 | 6 | c.839 others(21): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 49022411 | A | AAACAAC | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0001 a0001c0002t0005g0015 a0001c0002t0005g0016 others(6): Show |
10 | 294 | 0.0340 | 6 | c.462 others(23): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |