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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(684): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 156 | 0.0064 | 691 | c.358 others(708): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(684): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 156 | 0.0064 | 691 | c.358 others(708): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40203833 | A | ATAAATAT others(684): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 91 | 0.0110 | 691 | c.166 others(710): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(684): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 276 | 0.0036 | 691 | c.195 others(708): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841411 | T | TGACCACG others(684): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 222 | 0.0045 | 691 | c.361 others(710): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR3A2_chr17_3271177_3391308 | 3327954 | C | CTTGTACT others(684): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0005 | a0005c0006 | a0005c0006t0011 | a0005c0006t0011g0098 | 1 | 268 | 0.0037 | 691 | c.-27 others(710): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(684): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02071.hp2 NA19070.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0006 | a0001c0001t0001g0038 a0001c0001t0001g0230 a0001c0004t0006g0188 |
3 | 4 | 0.7500 | 691 | c.162 others(710): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504407 | T | TTCCTGTA others(684): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01978.hp2 HG03927.hp1 |
a0001a0007 | a0001c0002a0007c0016 | a0001c0002t0002a0001c0002t0031a0007c0016t0002 | a0001c0002t0002g0149 a0001c0002t0031g0147 a0007c0016t0002g0114 |
3 | 118 | 0.0254 | 691 | c.139 others(710): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GGTGGGGA others(684): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 102 | 0.0098 | 691 | c.351 others(710): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77356681 | C | CCCCCTCC others(684): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0043 | 1 | 117 | 0.0085 | 691 | c.77- others(708): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356681 | C | CCCCCTCC others(684): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0001 | 1 | 121 | 0.0083 | 691 | c.22+ others(708): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2354855 | T | TATATCTT others(684): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 419 | 0.0024 | 691 | c.134 others(708): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2354989 | G | GGGAAAGG others(684): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0020 | a0020c0022 | a0020c0022t0001 | a0020c0022t0001g0266 | 1 | 417 | 0.0024 | 691 | c.134 others(708): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280755 | C | CGGCGGCG others(684): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 321 | 0.0031 | 691 | c.970 others(710): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501128 | A | ATTATAAT others(684): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 152 | 0.0066 | 691 | c.*17 others(710): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642261 | G | GGGGGGGG others(684): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 362 | 0.0028 | 691 | c.*64 others(702): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4353 | chr20 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48735899 | T | TAGAGTCC others(684): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0018 | 1 | 256 | 0.0039 | 691 | c.391 others(710): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48735945 | T | TAGAGTCC others(684): Show |
intron_variant | MODIFIER | HG02922.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0012 a0001c0001t0033g0034 |
2 | 142 | 0.0141 | 691 | c.391 others(710): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(684): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0113 | 1 | 10 | 0.1000 | 691 | c.-25 others(710): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(684): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0218 a0001c0001t0001g0310 a0001c0001t0006g0217 others(1): Show |
4 | 11 | 0.3636 | 691 | c.424 others(708): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(684): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0221 | 1 | 8 | 0.1250 | 691 | c.424 others(708): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930556 | C | CTGGGGTT others(684): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 434 | 0.0023 | 691 | c.*50 others(702): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4813 | chr11 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028931 | C | CCCCACAC others(684): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0011 | a0011c0021 | a0011c0021t0002 | a0011c0021t0002g0050 | 1 | 204 | 0.0049 | 691 | c.225 others(710): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029244 | C | CCTCGTAA others(684): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0141 | 1 | 210 | 0.0048 | 691 | c.225 others(710): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029310 | A | ATCCTGAA others(684): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0045 a0003c0003t0001g0048 |
2 | 162 | 0.0123 | 691 | c.225 others(710): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870145 | T | TACACACC others(684): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 249 | 0.0040 | 691 | c.*35 others(710): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870987 | A | ACACCCCA others(684): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 272 | 0.0037 | 691 | c.*35 others(710): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(684): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 12 | 0.0833 | 691 | c.55+ others(706): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(684): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 12 | 0.0833 | 691 | c.55+ others(706): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(684): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02895.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0037 others(4): Show |
11 | 22 | 0.5000 | 691 | c.55+ others(706): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(684): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 12 | 0.0833 | 691 | c.55+ others(706): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(684): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0134 a0003c0005t0001g0135 |
2 | 13 | 0.1538 | 691 | c.55+ others(706): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(684): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03834.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0133 |
3 | 14 | 0.2143 | 691 | c.55+ others(706): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(684): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01978.hp1 HG01993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0136 a0001c0001t0001g0137 others(2): Show |
5 | 16 | 0.3125 | 691 | c.55+ others(706): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(684): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0036 | 1 | 72 | 0.0139 | 691 | c.205 others(710): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4018987 | G | GTTTTTTT others(684): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02647.hp1 others(1): Show |
a0004 | a0004c0020a0004c0064 | a0004c0020t0007a0004c0064t0007 | a0004c0020t0007g0019 a0004c0020t0007g0020 a0004c0020t0007g0022 others(1): Show |
4 | 269 | 0.0149 | 691 | c.750 others(708): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 46/54 | chr17 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(685): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0420 | 1 | 158 | 0.0063 | 692 | c.564 others(707): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758572 | C | CCACCTGC others(685): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19043.hp2 |
a0001a0003 | a0001c0019a0003c0003 | a0001c0019t0003a0003c0003t0003 | a0001c0019t0003g0003 a0003c0003t0003g0001 |
2 | 241 | 0.0083 | 692 | c.655 others(711): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70496351 | G | GTCACATC others(685): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01243.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(15): Show |
18 | 72 | 0.2500 | 692 | c.690 others(711): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGGCCC others(685): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 | 1 | 223 | 0.0045 | 692 | c.*36 others(703): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1128923 | C | CGTCACCC others(685): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 272 | 0.0037 | 692 | c.-1- others(707): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(685): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0166 | 1 | 151 | 0.0066 | 692 | c.63+ others(705): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255330 | T | TTATATAT others(685): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0227 | 1 | 286 | 0.0035 | 692 | c.907 others(707): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(685): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0112 | 1 | 66 | 0.0152 | 692 | c.-25 others(703): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(685): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0198 | 1 | 85 | 0.0118 | 692 | c.110 others(709): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333502 | G | GGGGGGGA others(685): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 359 | 0.0028 | 692 | c.891 others(707): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81704601 | C | CCCCCCAC others(685): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0029 others(42): Show |
45 | 257 | 0.1751 | 692 | c.209 others(709): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501960 | C | CAGCCGGT others(685): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0004 | a0004c0030 | a0004c0030t0002 | a0004c0030t0002g0148 | 1 | 282 | 0.0035 | 692 | c.268 others(711): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098116 | T | TATATAAA others(685): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02698.hp2 |
a0002 | a0002c0008 | a0002c0008t0003a0002c0008t0006 | a0002c0008t0003g0060 a0002c0008t0006g0021 |
2 | 252 | 0.0079 | 692 | c.181 others(711): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138692270 | T | TTGTGGAG others(685): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 49 | 0.0204 | 692 | c.275 others(711): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar |