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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRT_chr20_42067756_43194906 | 43169680 | T | TAAAGAAC others(1104): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 62 | 0.0161 | 1111 | c.88+ others(1128): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACCCT others(1104): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 338 | 0.0030 | 1111 | c.143 others(1128): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1104): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03688.hp1 NA18959.hp1 others(1): Show |
a0001a0013a0046 | a0001c0001a0013c0124a0046c0110 | a0001c0001t0001a0001c0001t0005a0013c0124t0003others(1): Show | a0001c0001t0001g0096 a0001c0001t0005g0008 a0013c0124t0003g0047 others(1): Show |
4 | 154 | 0.0260 | 1111 | c.108 others(1128): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1104): Show |
intron_variant | MODIFIER | HG02922.hp1 NA20300.hp1 NA20300.hp2 |
a0003a0007a0037 | a0003c0107a0007c0026a0037c0039 | a0003c0107t0002a0007c0026t0002a0037c0039t0001 | a0003c0107t0002g0080 a0007c0026t0002g0108 a0037c0039t0001g0053 |
3 | 154 | 0.0195 | 1111 | c.108 others(1128): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(1104): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 324 | 0.0031 | 1111 | c.115 others(1128): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1104): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 324 | 0.0031 | 1111 | c.115 others(1128): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106854503 | T | TTTGTTTC others(1104): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02280.hp2 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0001c0013others(1): Show | a0001c0002t0001a0001c0007t0021a0001c0013t0007others(1): Show | a0001c0002t0001g0041 a0001c0007t0021g0113 a0001c0013t0007g0065 others(2): Show |
5 | 130 | 0.0385 | 1111 | c.627 others(1130): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106854503 | T | TTTGTTTC others(1104): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0059 |
2 | 130 | 0.0154 | 1111 | c.627 others(1130): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1104): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 422 | 0.0024 | 1111 | c.*64 others(1122): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(1104): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0009 | a0001c0009t0030 | a0001c0009t0030g0136 | 1 | 174 | 0.0058 | 1111 | c.41- others(1128): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(1104): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0103 | 1 | 174 | 0.0058 | 1111 | c.41- others(1128): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1104): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 228 | 0.0044 | 1111 | c.127 others(1128): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(1105): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 182 | 0.0055 | 1112 | c.505 others(1131): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529637 | T | TATATAGT others(1105): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0024 | 1 | 236 | 0.0042 | 1112 | c.409 others(1131): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1105): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0128 | 1 | 242 | 0.0041 | 1112 | c.927 others(1129): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882566 | G | GCGGGGAG others(1105): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 1 | 288 | 0.0035 | 1112 | c.303 others(1131): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939884 | A | AAGAAAGA others(1105): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0201 | 1 | 258 | 0.0039 | 1112 | c.403 others(1127): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939884 | A | AAGAAAGA others(1105): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0221 a0001c0002t0004g0196 a0001c0002t0004g0199 |
3 | 258 | 0.0116 | 1112 | c.403 others(1127): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337562 | A | ATGGATAG others(1105): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0201 | 1 | 236 | 0.0042 | 1112 | c.342 others(1131): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65186181 | A | ACTTATCT others(1105): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0026 | a0001c0001t0025g0168 a0001c0001t0026g0167 |
2 | 190 | 0.0105 | 1112 | c.-10 others(1123): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 840 | chr15 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(1105): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 448 | 0.0022 | 1112 | c.51+ others(1127): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1105): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 276 | 0.0036 | 1112 | c.*51 others(1123): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | |||||||
DAP_chr5_10674230_10766234 | 10730758 | C | CTACTGAG others(1105): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0146 | 1 | 372 | 0.0027 | 1112 | c.152 others(1131): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1105): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0026 | a0026c0151 | a0026c0151t0001 | a0026c0151t0001g0096 | 1 | 252 | 0.0040 | 1112 | c.118 others(1131): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1105): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0056 | a0001c0056t0001 | a0001c0056t0001g0113 | 1 | 252 | 0.0040 | 1112 | c.118 others(1131): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1105): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0130 | a0130c0156 | a0130c0156t0001 | a0130c0156t0001g0032 | 1 | 252 | 0.0040 | 1112 | c.118 others(1131): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1105): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0022 | a0022c0086 | a0022c0086t0001 | a0022c0086t0001g0285 | 1 | 292 | 0.0034 | 1112 | c.228 others(1129): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1105): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0085 | a0003c0085t0002 | a0003c0085t0002g0276 | 1 | 292 | 0.0034 | 1112 | c.228 others(1129): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(1105): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0015 | a0015c0027 | a0015c0027t0002 | a0015c0027t0002g0233 | 1 | 292 | 0.0034 | 1112 | c.228 others(1129): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(1105): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0070 | 1 | 369 | 0.0027 | 1112 | c.-50 others(1123): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCTTCT others(1105): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0014 | a0014c0033 | a0014c0033t0001 | a0014c0033t0001g0044 | 1 | 174 | 0.0058 | 1112 | c.193 others(1131): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1105): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0031 a0001c0001t0010g0222 |
3 | 370 | 0.0081 | 1112 | c.572 others(1127): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1105): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0086 a0001c0001t0005g0017 a0001c0001t0005g0048 others(22): Show |
28 | 370 | 0.0757 | 1112 | c.572 others(1127): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1105): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02027.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0177 others(1): Show |
8 | 366 | 0.0219 | 1112 | c.-36 others(1123): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1105): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 366 | 0.0027 | 1112 | c.-36 others(1123): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1105): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG02027.hp2 HG02257.hp1 others(6): Show |
a0002a0011 | a0002c0002a0011c0015 | a0002c0002t0002a0011c0015t0002 | a0002c0002t0002g0013 a0002c0002t0002g0181 a0002c0002t0002g0182 others(4): Show |
9 | 348 | 0.0259 | 1112 | c.*87 others(1121): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1105): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0185 | 1 | 348 | 0.0029 | 1112 | c.*87 others(1121): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237126 | G | GGAGAGGG others(1105): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 1112 | c.-41 others(1123): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3968 | chr11 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364469 | A | ACTTACAC others(1105): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0247 | 1 | 290 | 0.0035 | 1112 | c.129 others(1129): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(1105): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 250 | 0.0040 | 1112 | c.225 others(1129): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(1105): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 388 | 0.0026 | 1112 | c.159 others(1129): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082580 | A | ATTCTCTC others(1105): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0051 | 1 | 68 | 0.0147 | 1112 | c.62- others(1131): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1105): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 456 | 0.0022 | 1112 | c.*31 others(1123): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1105): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 456 | 0.0044 | 1112 | c.*31 others(1123): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1105): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 456 | 0.0022 | 1112 | c.*31 others(1123): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1105): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0023 | 1 | 326 | 0.0031 | 1112 | c.162 others(1131): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1105): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02622.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0013 a0001c0002t0004g0015 a0001c0002t0004g0018 others(1): Show |
4 | 326 | 0.0123 | 1112 | c.162 others(1131): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1105): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0160 | 1 | 326 | 0.0031 | 1112 | c.162 others(1131): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1105): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0017 | a0017c0070 | a0017c0070t0008 | a0017c0070t0008g0090 | 1 | 134 | 0.0075 | 1112 | c.575 others(1133): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(1105): Show |
intron_variant | MODIFIER | HG02486.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0139 a0001c0001t0011g0154 |
2 | 160 | 0.0125 | 1112 | c.389 others(1133): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |