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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGAP1_chr2_235489043_236136793 | 235542538 | TACATCCT others(52): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02622.hp1 |
a0001a0002 | a0001c0002a0001c0003a0002c0013 | a0001c0002t0014a0001c0003t0009a0002c0013t0041 | a0001c0002t0014g0076 a0001c0003t0009g0096 a0002c0013t0041g0081 |
3 | 98 | 0.0306 | -59 | c.163 others(78): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235707639 | ATGTGACA others(52): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01192.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0019others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0005g0007 others(20): Show |
23 | 98 | 0.2347 | -59 | c.164 others(76): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531428 | CTATATAT others(52): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG01975.hp1 others(12): Show |
a0001a0003a0012 | a0001c0001a0003c0006a0012c0015 | a0001c0001t0001a0001c0001t0006a0003c0006t0002others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0099 others(12): Show |
15 | 236 | 0.0636 | -59 | c.409 others(78): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15531452 | CTCTATAT others(52): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0075 a0001c0005t0004g0002 |
2 | 236 | 0.0085 | -59 | c.409 others(78): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161225060 | CGATTACC others(52): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0058 | a0001c0001t0057g0171 a0001c0001t0058g0032 |
2 | 264 | 0.0076 | -59 | c.178 others(76): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161265121 | TGCTGGAC others(52): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0131 | 1 | 264 | 0.0038 | -59 | c.-90 others(76): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161265343 | TGATTAGT others(52): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 264 | 0.0038 | -59 | c.-90 others(76): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGT_chr1_230697523_230719122 | 230707068 | AATGGATT others(52): Show |
A | intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 456 | 0.0022 | -59 | c.830 others(74): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129384222 | ACATATAT others(52): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0099 | 1 | 292 | 0.0034 | -59 | c.475 others(76): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKIP1_chr11_8906189_8925079 | 8910650 | TGGACACG others(52): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0019 | 1 | 420 | 0.0024 | -59 | c.-57 others(68): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 538 | chr11 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107906 | AAAGAAAG others(52): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp1 HG01891.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0147 a0001c0001t0002g0179 a0001c0001t0002g0251 others(9): Show |
12 | 422 | 0.0284 | -59 | c.168 others(76): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38610299 | AAGAAAAG others(52): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0153 a0001c0003t0002g0154 |
2 | 288 | 0.0069 | -59 | c.69+ others(76): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMZ1_chr7_2683202_2724683 | 2702547 | TTTGAAAA others(52): Show |
T | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 438 | 0.0023 | -59 | c.305 others(74): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64952823 | CCTCCTTC others(52): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 338 | 0.0030 | -59 | c.148 others(78): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 98886368 | GGTACCAT others(52): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0031 | 1 | 48 | 0.0208 | -59 | c.277 others(80): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 17/26 | chr12 | TogoVar | |||||||
ANXA10_chr4_168087537_168192736 | 168155864 | TATATCAT others(52): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0223 | 1 | 284 | 0.0035 | -59 | c.196 others(76): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168155885 | TATATAAT others(52): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01074.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0003t0001a0001c0011t0001 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0198 others(25): Show |
29 | 284 | 0.1021 | -59 | c.196 others(76): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 961740 | TAGTCGCC others(52): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0140 | 1 | 268 | 0.0037 | -59 | c.136 others(76): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40982194 | GGAAAGAA others(52): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01071.hp1 others(19): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(10): Show | a0001c0002t0001g0099 a0001c0002t0001g0110 a0001c0002t0001g0137 others(19): Show |
22 | 192 | 0.1146 | -59 | c.835 others(78): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | AGAGCAGC others(52): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 246 | 0.0041 | -59 | c.298 others(76): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531269 | GGGCTAGA others(52): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG06807.hp1 NA18963.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0141 a0001c0001t0001g0179 others(1): Show |
4 | 246 | 0.0163 | -59 | c.298 others(76): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531427 | GGAGCAGC others(52): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG02559.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0005g0243 |
3 | 246 | 0.0122 | -59 | c.298 others(76): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531486 | CGAGCAGC others(52): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0239 | 1 | 246 | 0.0041 | -59 | c.298 others(76): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531623 | GGGCTAGA others(52): Show |
G | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 246 | 0.0041 | -59 | c.298 others(76): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531781 | GGAGCAGC others(52): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01346.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001 | a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0179 others(5): Show |
8 | 246 | 0.0325 | -59 | c.298 others(76): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531840 | CGAGCAGC others(52): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0202 |
2 | 246 | 0.0081 | -59 | c.298 others(76): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531918 | GGGCTAGA others(52): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 others(1): Show |
4 | 246 | 0.0163 | -59 | c.298 others(76): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
ARHGAP8_chr22_44747575_44867784 | 44801018 | GGGGCCGC others(52): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(82): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0018others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(23): Show | a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0370 others(82): Show |
85 | 390 | 0.2180 | -59 | c.80- others(73): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ARHGDIG_chr16_275591_288010 | 286194 | GCCCCGCA others(52): Show |
G | downstream_gene_variant | MODIFIER | NA18948.hp2 NA18961.hp2 NA18962.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0003g0002 a0001c0001t0004g0002 |
13 | 442 | 0.0294 | -59 | c.*33 others(70): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 3185 | chr16 | TogoVar | |||||||
ARHGEF10L_chr1_17534698_17702869 | 17684673 | GAGACACC others(52): Show |
G | intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0141 | 1 | 168 | 0.0060 | -59 | c.301 others(78): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 26/28 | chr1 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1874731 | AGTGGAGG others(52): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0355 | 1 | 363 | 0.0028 | -59 | c.680 others(76): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1874734 | GGAGGTTC others(52): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0168 | 1 | 363 | 0.0028 | -59 | c.680 others(76): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1874853 | GAGGTTCT others(52): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02559.hp1 HG02622.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0004a0001c0002t0001a0001c0011t0054others(5): Show | a0001c0001t0004g0138 a0001c0002t0001g0211 a0001c0011t0054g0228 others(5): Show |
8 | 363 | 0.0220 | -59 | c.680 others(76): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1875089 | GAGGTTCT others(52): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02559.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0004a0001c0004t0002a0001c0012t0003others(3): Show | a0001c0001t0004g0138 a0001c0004t0002g0251 a0001c0012t0003g0347 others(3): Show |
6 | 363 | 0.0165 | -59 | c.680 others(76): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1888116 | TAGTGGGG others(52): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(25): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0004a0001c0008others(14): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0002g0069 a0001c0001t0002g0232 a0001c0001t0002g0233 others(25): Show |
28 | 363 | 0.0771 | -59 | c.118 others(78): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1888180 | GGGTGAGG others(52): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0359 | 1 | 363 | 0.0028 | -59 | c.118 others(78): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1889366 | GTGAGGGG others(52): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0024 | a0002c0024t0053 | a0002c0024t0053g0178 | 1 | 363 | 0.0028 | -59 | c.118 others(78): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1890152 | GGAGACAC others(52): Show |
G | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0006 | a0001c0006t0050 | a0001c0006t0050g0094 | 1 | 363 | 0.0028 | -59 | c.118 others(78): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1890186 | ACACTGAA others(52): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01496.hp1 others(24): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0004a0001c0001t0043a0001c0002t0001others(20): Show | a0001c0001t0004g0138 a0001c0001t0043g0145 a0001c0002t0001g0048 others(24): Show |
27 | 363 | 0.0744 | -59 | c.118 others(78): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110449454 | CGGGAGGC others(52): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0260 | 1 | 334 | 0.0030 | -59 | c.6+7 others(70): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18016198 | GGGGAGGG others(52): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01081.hp2 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0002others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(22): Show |
56 | 414 | 0.1353 | -59 | c.*32 others(70): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 2097 | chr19 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219516 | TATTTGTA others(52): Show |
T | intron_variant | MODIFIER | NA18987.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0223 |
2 | 410 | 0.0049 | -59 | c.670 others(76): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112884735 | CTGATTCA others(52): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0019a0001c0002t0003a0001c0002t0006others(23): Show | a0001c0001t0019g0018 a0001c0001t0019g0142 a0001c0002t0003g0198 others(46): Show |
49 | 254 | 0.1929 | -59 | c.*29 others(70): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 30/30 | 6562 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP5MC2_chr12_53660170_53681083 | 53681024 | AGCCTCCC others(52): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 418 | 0.0024 | -59 | c.-50 others(70): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4942 | chr12 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25383237 | GGTTTCAC others(52): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0119 | 1 | 122 | 0.0082 | -59 | c.76+ others(76): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 286194 | GCCCCGCA others(52): Show |
G | downstream_gene_variant | MODIFIER | NA18948.hp1 NA18961.hp1 NA18962.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0001a0001c0001t0005a0001c0001t0043others(2): Show | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0334 others(11): Show |
14 | 378 | 0.0370 | -59 | c.*18 others(70): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1245 | chr16 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81457904 | AGGGAGGG others(52): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA18942.hp1 NA18966.hp1 others(1): Show |
a0003 | a0003c0002a0003c0064 | a0003c0002t0001a0003c0002t0004a0003c0064t0005 | a0003c0002t0001g0049 a0003c0002t0004g0280 a0003c0002t0004g0295 others(1): Show |
4 | 332 | 0.0121 | -59 | c.504 others(76): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87989595 | CGGGGGAT others(52): Show |
C | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 352 | 0.0028 | -59 | c.362 others(76): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87989624 | CATCCAGG others(52): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0051 | 1 | 352 | 0.0028 | -59 | c.362 others(76): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87989710 | CGACGGGG others(52): Show |
C | intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0024 | a0002c0024t0003 | a0002c0024t0003g0171 | 1 | 352 | 0.0028 | -59 | c.362 others(76): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |