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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH4_chr20_61247261_61945617 | 61329346 | T | TCCCTCGT others(1049): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0013 | a0001c0013t0006 | a0001c0013t0006g0035 | 1 | 66 | 0.0152 | 1056 | c.169 others(1075): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065162 | A | ATAGTATT others(1049): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 324 | 0.0031 | 1056 | c.-26 others(1067): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2297 | chr11 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650709 | C | CTGTGAGG others(1049): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 90 | 0.0111 | 1056 | c.177 others(1075): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255786 | A | AGGGGAAA others(1049): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0004 | a0004c0070 | a0004c0070t0001 | a0004c0070t0001g0038 | 1 | 315 | 0.0032 | 1056 | c.85- others(1073): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1049): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0083 | a0001c0083t0001 | a0001c0083t0001g0191 | 1 | 134 | 0.0075 | 1056 | c.180 others(1075): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1049): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0011 | a0001c0011t0008 | a0001c0011t0008g0176 | 1 | 134 | 0.0075 | 1056 | c.180 others(1075): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1049): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0319 | 1 | 134 | 0.0075 | 1056 | c.180 others(1075): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1049): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0128 | 1 | 134 | 0.0075 | 1056 | c.180 others(1075): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385906 | T | TTACAGTG others(1049): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0110 | a0002c0110t0008 | a0002c0110t0008g0014 | 1 | 245 | 0.0041 | 1056 | c.180 others(1075): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(1049): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 274 | 0.0036 | 1056 | c.51+ others(1071): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(1049): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 85 | 0.0118 | 1056 | c.646 others(1071): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725401 | G | GGCAGAGA others(1049): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 174 | 0.0057 | 1056 | c.340 others(1073): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(1049): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0131 | 1 | 292 | 0.0034 | 1056 | c.340 others(1073): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(1049): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0320 | 1 | 292 | 0.0034 | 1056 | c.340 others(1073): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(1049): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0264 | 1 | 190 | 0.0053 | 1056 | c.340 others(1073): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478072 | G | GAGAGGGG others(1049): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0013 | 1 | 85 | 0.0118 | 1056 | c.158 others(1073): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928005 | G | GTGGTATT others(1049): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0254 | 1 | 275 | 0.0036 | 1056 | c.190 others(1075): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | chr14 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(1049): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01346.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0090 others(3): Show |
6 | 63 | 0.0952 | 1056 | c.*35 others(1067): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCAACACC others(1049): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0016 | 1 | 12 | 0.0833 | 1056 | c.*28 others(1067): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591870 | T | TTGTGATG others(1049): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 396 | 0.0025 | 1056 | c.*49 others(1067): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3931 | chr5 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399223 | C | CCACCACC others(1049): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 295 | 0.0034 | 1056 | c.-25 others(1073): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399397 | T | TCACCACC others(1049): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 224 | 0.0045 | 1056 | c.-25 others(1073): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1049): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 283 | 0.0035 | 1056 | c.105 others(1073): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(1049): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18991.hp2 NA19056.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0116 others(2): Show |
5 | 153 | 0.0327 | 1056 | c.804 others(1073): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055103 | A | ATGCATAG others(1049): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp2 HG02965.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0007a0001c0001t0009a0002c0003t0003others(1): Show | a0001c0001t0007g0018 a0001c0001t0009g0007 a0002c0003t0003g0234 others(1): Show |
4 | 223 | 0.0179 | 1056 | c.193 others(1075): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(1049): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0261 | 1 | 215 | 0.0047 | 1056 | c.129 others(1073): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1049): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0017 | a0001c0017t0052 | a0001c0017t0052g0017 | 1 | 45 | 0.0222 | 1056 | c.648 others(1075): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248742224 | C | CGCTCTGG others(1049): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 356 | 0.0028 | 1056 | c.476 others(1073): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2101592 | C | CAGGTGGG others(1049): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0097 | 1 | 254 | 0.0039 | 1056 | c.107 others(1077): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 11/18 | chr7 | TogoVar | |||||||
MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(1049): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 59 | 0.0169 | 1056 | c.484 others(1071): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195778992 | G | GGTGACAG others(1049): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp1 | a0093 | a0093c0031 | a0093c0031t0005 | a0093c0031t0005g0230 | 1 | 248 | 0.0040 | 1056 | c.125 others(1067): Show |
p.Thr others(1071): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12699/16756 | 12587/16239 | 4196/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785553 | T | TGCTGAGG others(1049): Show |
disruptive_inframe_insertion | MODERATE | HG03041.hp1 HG03225.hp1 |
a0082a0089 | a0082c0112a0089c0110 | a0082c0112t0001a0089c0110t0001 | a0082c0112t0001g0019 a0089c0110t0001g0018 |
2 | 231 | 0.0087 | 1056 | c.602 others(1065): Show |
p.Val others(1071): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6138/16756 | 6026/16239 | 2009/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785741 | A | AGGATGCT others(1049): Show |
conservative_inframe_insertion | MODERATE | HG03688.hp1 | a0095 | a0095c0151 | a0095c0151t0011 | a0095c0151t0011g0205 | 1 | 226 | 0.0044 | 1056 | c.583 others(1065): Show |
p.Ser others(1071): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5950/16756 | 5838/16239 | 1946/5412 | chr3 | TogoVar | |||
NFATC1_chr18_79390930_79534323 | 79494279 | C | CGCCGGGG others(1049): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0006 | a0001c0006t0049 | a0001c0006t0049g0049 | 1 | 146 | 0.0068 | 1056 | c.278 others(1075): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150219 | C | CGCCGCCT others(1049): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 265 | 0.0038 | 1056 | c.902 others(1071): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150448 | G | GCTCACAC others(1049): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0001 | 1 | 236 | 0.0042 | 1056 | c.902 others(1071): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1049): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 NA19060.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 137 | 0.0219 | 1056 | c.*31 others(1067): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1049): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 394 | 0.0051 | 1056 | c.*31 others(1067): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1049): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 393 | 0.0025 | 1056 | c.*31 others(1067): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1049): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 NA19056.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 3 | 395 | 0.0076 | 1056 | c.*31 others(1067): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45925128 | A | ATCGGGTG others(1049): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0033 | 1 | 161 | 0.0062 | 1056 | c.718 others(1073): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1049): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0025 | a0025c0050 | a0025c0050t0001 | a0025c0050t0001g0023 | 1 | 43 | 0.0233 | 1056 | c.575 others(1077): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150197859 | C | CCCTGGCC others(1049): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01516.hp1 HG01517.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0193 a0002c0002t0001g0226 a0002c0002t0001g0227 |
3 | 310 | 0.0097 | 1056 | c.307 others(1075): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397980 | C | CCTGTCCT others(1049): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0306 | 1 | 324 | 0.0031 | 1056 | c.227 others(1073): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1049): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 195 | 0.0051 | 1056 | c.347 others(1071): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356508 | G | GCGCACCA others(1049): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 69 | 0.0145 | 1056 | c.-40 others(1067): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3702 | chr17 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1049): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 28 | 0.0357 | 1056 | c.-50 others(1067): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(1049): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0068 | a0002c0002t0068g0233 | 1 | 295 | 0.0034 | 1056 | c.189 others(1073): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747993 | T | TGGGAGGC others(1049): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0293 | 1 | 216 | 0.0046 | 1056 | c.189 others(1071): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(1049): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01346.hp2 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020a0001c0001t0124others(1): Show | a0001c0001t0003g0076 a0001c0001t0003g0085 a0001c0001t0020g0127 others(2): Show |
5 | 130 | 0.0385 | 1056 | c.*54 others(1067): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar |