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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARMC9_chr2_231193631_231381848 | 231328814 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01168.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0058a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0058g0199 a0001c0002t0002g0044 a0001c0002t0002g0058 others(8): Show |
11 | 149 | 0.0738 | 23 | c.177 others(42): Show |
ARMC9 | ENSG00000135931.19 | transcript | ENST00000611582.5 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARNT2_chr15_80399382_80602933 | 80516828 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0009 | a0001c0001t0005g0118 a0002c0003t0009g0120 |
2 | 12 | 0.1667 | 23 | c.877 others(40): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 8/18 | chr15 | TogoVar | |||||||
ARPC2_chr2_218212189_218259348 | 218215618 | T | TAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00735.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(25): Show |
33 | 46 | 0.7174 | 23 | c.-16 others(34): Show |
ARPC2 | ENSG00000163466.16 | transcript | ENST00000315717.10 | protein_coding | 1570 | chr2 | TogoVar | |||||||
ARPC3_chr12_110429823_110455337 | 110450831 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 NA18943.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0110 a0001c0001t0001g0135 |
3 | 14 | 0.2143 | 23 | c.-57 others(32): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 495 | chr12 | TogoVar | |||||||
ARRB1_chr11_75255122_75356661 | 75275154 | T | TTTATTTT others(16): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0203 | 1 | 318 | 0.0031 | 23 | c.777 others(38): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 10/15 | chr11 | TogoVar | |||||||
ARRB2_chr17_4705632_4726497 | 4709637 | T | TCAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 2 | 430 | 0.0047 | 23 | c.-10 others(34): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 994 | chr17 | TogoVar | |||||||
ARRB2_chr17_4705632_4726497 | 4709640 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0048 others(2): Show |
15 | 427 | 0.0351 | 23 | c.-10 others(34): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 991 | chr17 | TogoVar | |||||||
ARRB2_chr17_4705632_4726497 | 4724411 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 NA19054.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0064 |
2 | 81 | 0.0247 | 23 | c.*33 others(34): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 2915 | chr17 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4886710 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0250 a0001c0002t0001g0378 |
2 | 222 | 0.0090 | 23 | c.*43 others(34): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3726 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4886710 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 221 | 0.0045 | 23 | c.*43 others(34): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3726 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4894510 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 |
3 | 9 | 0.3333 | 23 | c.459 others(40): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
ARSA_chr22_50617754_50633152 | 50621077 | A | ACTCACAT others(16): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 458 | 0.0022 | 23 | c.*40 others(34): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 1676 | chr22 | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036826 | A | AATATTAT others(16): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0016 | 1 | 180 | 0.0056 | 23 | c.-48 others(34): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4644 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3037230 | T | TTATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0179 a0002c0004t0001g0180 |
2 | 191 | 0.0105 | 23 | c.-44 others(34): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4240 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036826 | A | AATATTAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0022 | 2 | 236 | 0.0085 | 23 | c.*34 others(34): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2716 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037230 | T | TTATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0178 |
2 | 246 | 0.0081 | 23 | c.*38 others(34): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 3120 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3663089 | A | ATCATCTC others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0068 | 1 | 180 | 0.0056 | 23 | c.887 others(38): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAAATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 NA18960.hp1 NA19078.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0004a0001c0003t0004 | a0001c0001t0003g0077 a0001c0002t0004g0036 a0001c0002t0004g0065 others(1): Show |
4 | 115 | 0.0348 | 23 | c.*55 others(34): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049350 | T | TGGGGGGC others(16): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0267 | 1 | 248 | 0.0040 | 23 | c.*53 others(34): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2753 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130072825 | G | GTGCGTGT others(16): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0246 | 1 | 209 | 0.0048 | 23 | c.270 others(42): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130101732 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 68 | 0.0147 | 23 | c.240 others(42): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130366886 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0033 | 1 | 182 | 0.0055 | 23 | c.60- others(38): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2/29 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0205 | 1 | 94 | 0.0106 | 23 | c.127 others(42): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0164 | 1 | 94 | 0.0106 | 23 | c.127 others(42): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB11_chrX_15276697_15320640 | 15309967 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 152 | 0.0066 | 23 | c.181 others(40): Show |
ASB11 | ENSG00000165192.14 | transcript | ENST00000480796.6 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5662636 | G | GAGAAGAG others(16): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 444 | 0.0023 | 23 | c.43+ others(38): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123637878 | T | TAAAAAAA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01070.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0005a0003c0006t0005 | a0001c0001t0005g0001 a0001c0001t0005g0006 a0001c0001t0005g0008 others(9): Show |
15 | 101 | 0.1485 | 23 | c.*91 others(32): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 12/12 | 920 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0012 | a0012c0020 | a0012c0020t0009 | a0012c0020t0009g0015 | 1 | 130 | 0.0077 | 23 | c.110 others(42): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236202794 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03225.hp1 HG03453.hp2 |
a0008 | a0008c0013 | a0008c0013t0011 | a0008c0013t0011g0007 a0008c0013t0011g0217 |
3 | 132 | 0.0227 | 23 | c.110 others(42): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
ASB1_chr2_238421927_238457250 | 238454908 | G | GTGCACCG others(16): Show |
downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0122 | 1 | 414 | 0.0024 | 23 | c.*83 others(34): Show |
ASB1 | ENSG00000065802.12 | transcript | ENST00000264607.9 | protein_coding | 2659 | chr2 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176218671 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp2 others(60): Show |
a0001a0002a0006 | a0001c0002a0002c0012a0006c0007 | a0001c0002t0001a0001c0002t0017a0002c0012t0001others(1): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(54): Show |
63 | 404 | 0.1559 | 23 | c.671 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219103 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01169.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255 a0001c0002t0001g0266 a0001c0002t0001g0267 |
3 | 406 | 0.0074 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219371 | T | TTGTATGA others(16): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0358 | 1 | 405 | 0.0025 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219410 | A | AATATATA others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0095 |
2 | 404 | 0.0050 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219444 | T | TTGTATGA others(16): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0299 | 1 | 408 | 0.0025 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219519 | T | TTGTATGA others(16): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 404 | 0.0025 | 23 | c.670 others(40): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB7_chr15_100597589_100656701 | 100611484 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0098 |
2 | 23 | 0.0870 | 23 | c.-51 others(38): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72198403 | G | GAAGGGAA others(16): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199 | 1 | 146 | 0.0068 | 23 | c.311 others(40): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100597809 | G | GAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03579.hp1 NA18946.hp2 others(7): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0003c0004t0001 | a0002c0003t0002g0011 a0002c0003t0002g0014 a0002c0003t0002g0015 others(7): Show |
10 | 146 | 0.0685 | 23 | c.530 others(42): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 34/41 | chr6 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102962441 | T | TTTCATTC others(16): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 206 | 0.0049 | 23 | c.*31 others(34): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1929 | chr12 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102962477 | C | CTTTCTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 238 | 0.0042 | 23 | c.*31 others(34): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1965 | chr12 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155510321 | A | AGACAAAA others(16): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 180 | 0.0056 | 23 | c.420 others(42): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASIC4_chr2_219509482_219543772 | 219523982 | C | CCTGGCTA others(16): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0095 | 1 | 370 | 0.0027 | 23 | c.583 others(40): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34258700 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 235 | 0.0043 | 23 | c.-10 others(40): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34269946 | T | TAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 32 | 0.0313 | 23 | c.*77 others(32): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 603 | chr20 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1428667 | A | AAATAAAT others(16): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0031 | 1 | 183 | 0.0055 | 23 | c.510 others(38): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1647128 | T | TTTCTTTC others(16): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0139 | 1 | 168 | 0.0060 | 23 | c.*41 others(34): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4048 | chrX | TogoVar | |||||||
ASPDH_chr19_50506603_50518913 | 50511950 | G | GCACAGAG others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(247): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(16): Show |
250 | 369 | 0.6775 | 23 | c.809 others(38): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GTGTGTGT others(16): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0114 |
2 | 5 | 0.4000 | 23 | c.176 others(42): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197148333 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG03017.hp2 others(16): Show |
a0001a0007a0018others(2): Show | a0001c0001a0001c0003a0007c0015others(3): Show | a0001c0001t0001a0001c0003t0001a0007c0015t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0025 others(13): Show |
19 | 46 | 0.4130 | 23 | c.-18 others(34): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1665 | chr1 | TogoVar |