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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GGAGAGGG others(1109): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 1116 | c.*29 others(1127): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050200 | G | GTCCCTAC others(1109): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18990.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 3 | 400 | 0.0075 | 1116 | c.102 others(1131): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050200 | G | GTCCCTAC others(1109): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 400 | 0.0025 | 1116 | c.102 others(1131): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(1109): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 400 | 0.0025 | 1116 | c.102 others(1131): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1109): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0267 | 1 | 292 | 0.0034 | 1116 | c.228 others(1133): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(1109): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0003 | a0003c0026 | a0003c0026t0002 | a0003c0026t0002g0241 a0003c0026t0002g0242 |
2 | 292 | 0.0069 | 1116 | c.228 others(1133): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(1109): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0019 | a0003c0019t0002 | a0003c0019t0002g0243 | 1 | 292 | 0.0034 | 1116 | c.228 others(1133): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(1109): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0018 | a0018c0031 | a0018c0031t0020 | a0018c0031t0020g0010 a0018c0031t0020g0069 |
2 | 369 | 0.0054 | 1116 | c.-50 others(1127): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(1109): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0006 | a0006c0010 | a0006c0010t0009 | a0006c0010t0009g0077 | 1 | 369 | 0.0027 | 1116 | c.-50 others(1127): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
FKBP2_chr11_64236095_64249132 | 64237126 | G | GGAGAGGG others(1109): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 1116 | c.-40 others(1127): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3968 | chr11 | TogoVar | |||||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(1109): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 384 | 0.0026 | 1116 | c.467 others(1131): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLT6D1_chr9_135618648_135644540 | 135620055 | A | ACTCCCCC others(1109): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 436 | 0.0023 | 1116 | c.*40 others(1127): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3592 | chr9 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1109): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 370 | 0.0027 | 1116 | c.572 others(1131): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1109): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(134): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(96): Show |
137 | 370 | 0.3703 | 1116 | c.572 others(1131): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1109): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 370 | 0.0027 | 1116 | c.572 others(1131): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1109): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 370 | 0.0027 | 1116 | c.572 others(1131): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1109): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0282 a0001c0001t0003g0042 |
2 | 370 | 0.0054 | 1116 | c.572 others(1131): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399225 | A | ACCACCGC others(1109): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0249 | 1 | 314 | 0.0032 | 1116 | c.-25 others(1133): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775042 | G | GACGGAGG others(1109): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0077 a0001c0004t0001g0011 a0001c0004t0001g0012 |
3 | 204 | 0.0147 | 1116 | c.978 others(1133): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(1109): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0203 | 1 | 282 | 0.0036 | 1116 | c.258 others(1133): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(1109): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 364 | 0.0028 | 1116 | c.418 others(1133): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(1109): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01175.hp2 HG02027.hp1 others(42): Show |
a0001a0006a0007others(7): Show | a0001c0001a0001c0009a0001c0036others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0021others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 others(33): Show |
45 | 364 | 0.1236 | 1116 | c.418 others(1133): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCCCTCTC others(1109): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0027 | a0001c0017t0027g0012 | 1 | 158 | 0.0063 | 1116 | c.*11 others(1137): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997262 | G | GGCGGGGG others(1109): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0249 | 1 | 375 | 0.0027 | 1116 | c.-22 others(1127): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 408 | chr6 | TogoVar | |||||||
KRTAP5-7_chr11_71522267_71533669 | 71522609 | G | GGCTGGTG others(1109): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0000 | 1 | 460 | 0.0022 | 1116 | c.-46 others(1127): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 4657 | chr11 | TogoVar | |||||||
KRTAP5-7_chr11_71522267_71533669 | 71522673 | C | CGAGTACG others(1109): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0000 | 1 | 460 | 0.0022 | 1116 | c.-46 others(1127): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 4593 | chr11 | TogoVar | |||||||
KRTAP5-7_chr11_71522267_71533669 | 71522673 | C | CGAGTACG others(1109): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0000 | 1 | 460 | 0.0022 | 1116 | c.-46 others(1127): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 4593 | chr11 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1109): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0059 | a0059c0019 | a0059c0019t0001 | a0059c0019t0001g0009 | 1 | 186 | 0.0054 | 1116 | c.956 others(1133): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LOC102723971_chr9_135609183_135624893 | 135620055 | A | ACTCCCCC others(1109): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 450 | 0.0022 | 1116 | c.*11 others(1127): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 163 | chr9 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1109): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1116 | c.-29 others(1127): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(1109): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0013 | 1 | 296 | 0.0034 | 1116 | c.368 others(1133): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916173 | A | ATTATATA others(1109): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0007 | a0007c0010 | a0007c0010t0043 | a0007c0010t0043g0031 | 1 | 108 | 0.0093 | 1116 | c.648 others(1135): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583342 | G | GCAGCCAC others(1109): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0060 | a0060c0062 | a0060c0062t0011 | a0060c0062t0011g0147 | 1 | 292 | 0.0034 | 1116 | c.377 others(1133): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876950 | G | GGTTAGGG others(1109): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0007 | a0007c0013 | a0007c0013t0003 | a0007c0013t0003g0267 | 1 | 274 | 0.0037 | 1116 | c.224 others(1135): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1109): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG02886.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0003 | a0001c0001t0007g0001 a0001c0003t0003g0064 |
3 | 436 | 0.0069 | 1116 | c.*56 others(1127): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1109): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0088 | 1 | 436 | 0.0023 | 1116 | c.*56 others(1127): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1109): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0071 | 1 | 394 | 0.0025 | 1116 | c.-8+ others(1129): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(1109): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0164 | 1 | 394 | 0.0025 | 1116 | c.315 others(1133): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2295569 | G | GAGAGAGA others(1109): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 104 | 0.0096 | 1116 | c.-52 others(1137): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(1109): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0072 |
2 | 402 | 0.0050 | 1116 | c.-42 others(1127): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(1109): Show |
upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 1116 | c.-42 others(1127): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(1109): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 402 | 0.0025 | 1116 | c.-42 others(1127): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(1109): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 178 | 0.0056 | 1116 | c.773 others(1131): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1109): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0023 | 1 | 376 | 0.0027 | 1116 | c.*15 others(1127): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCATC others(1109): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0110 | 1 | 322 | 0.0031 | 1116 | c.*48 others(1127): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646430 | T | TCCACCTG others(1109): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0122 | 1 | 180 | 0.0056 | 1116 | c.-35 others(1137): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1109): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0007 | 1 | 334 | 0.0030 | 1116 | c.45- others(1131): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744397 | T | TCCTGGCT others(1109): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0135 | 1 | 196 | 0.0051 | 1116 | c.655 others(1133): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(1109): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0229 | 1 | 324 | 0.0031 | 1116 | c.115 others(1133): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431787 | T | TAGGGTGG others(1109): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0229 | 1 | 376 | 0.0027 | 1116 | c.101 others(1135): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |