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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(890): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 10 | 0.1000 | 897 | c.*36 others(912): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(890): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0192 |
2 | 11 | 0.1818 | 897 | c.*36 others(912): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(890): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 341 | 0.0029 | 897 | c.-6- others(912): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(890): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0055 | 1 | 2 | 0.5000 | 897 | c.*53 others(908): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VCX3A_chrX_6528618_6540118 | 6533146 | A | ACACCTCC others(890): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0025 | a0025c0020 | a0025c0020t0003 | a0025c0020t0003g0036 | 1 | 47 | 0.0213 | 897 | c.*59 others(906): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 471 | chrX | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(890): Show |
intron_variant | MODIFIER | NA18946.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 a0001c0001t0001g0310 |
2 | 38 | 0.0526 | 897 | c.181 others(918): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1119319 | C | CCCAGCAT others(891): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0249 | 1 | 300 | 0.0033 | 898 | c.246 others(915): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(891): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0020 | a0002c0020t0005 | a0002c0020t0005g0079 | 1 | 30 | 0.0333 | 898 | c.505 others(917): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(891): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 74 | 0.0135 | 898 | c.937 others(913): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(891): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0247 | 1 | 196 | 0.0051 | 898 | c.181 others(917): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(891): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0046 | 1 | 3 | 0.3333 | 898 | c.110 others(915): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933910 | G | GAATGAGT others(891): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0001 | a0002c0001t0060 | a0002c0001t0060g0020 | 1 | 384 | 0.0026 | 898 | c.198 others(913): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238178 | G | GAGGGAGG others(891): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0144 | 1 | 197 | 0.0051 | 898 | c.923 others(917): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478095 | A | AGGGGAAA others(891): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0050 | 1 | 88 | 0.0114 | 898 | c.158 others(915): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(891): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0029 | a0029c0070 | a0029c0070t0001 | a0029c0070t0001g0152 | 1 | 127 | 0.0079 | 898 | c.101 others(917): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272059 | T | TTTTTTTT others(891): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171 | 1 | 389 | 0.0026 | 898 | c.966 others(915): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716506 | G | GTGGTGTC others(891): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 132 | 0.0076 | 898 | c.86- others(909): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FGFR2_chr10_121473332_121603444 | 121584822 | C | CCCCAACC others(891): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 3 | 0.3333 | 898 | c.109 others(915): Show |
FGFR2 | ENSG00000066468.24 | transcript | ENST00000358487.10 | protein_coding | 2/17 | chr10 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(891): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 6 | 0.1667 | 898 | c.-17 others(917): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241349 | C | CCCCTTCC others(891): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0183 | 1 | 163 | 0.0061 | 898 | c.107 others(917): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241477 | G | GCCACACA others(891): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 90 | 0.0111 | 898 | c.107 others(917): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(891): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 204 | 0.0049 | 898 | c.-36 others(909): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(891): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 204 | 0.0049 | 898 | c.-36 others(909): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(891): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0247 | 1 | 204 | 0.0049 | 898 | c.-36 others(909): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(891): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0024 a0001c0001t0004g0025 |
2 | 17 | 0.1176 | 898 | c.193 others(917): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859860 | G | GAGTGGTG others(891): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0011 | a0011c0056 | a0011c0056t0009 | a0011c0056t0009g0137 | 1 | 275 | 0.0036 | 898 | c.153 others(917): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 961564 | G | GACAGACT others(891): Show |
intron_variant | MODIFIER | HG03453.hp2 HG06807.hp2 |
a0010 | a0010c0038a0010c0039 | a0010c0038t0001a0010c0039t0002 | a0010c0038t0001g0244 a0010c0039t0002g0264 |
2 | 245 | 0.0082 | 898 | c.194 others(915): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(891): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 NA19003.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0001 | 2 | 349 | 0.0057 | 898 | c.-29 others(909): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155349288 | G | GGAAGAGG others(891): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0062 | 1 | 414 | 0.0024 | 898 | c.182 others(917): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(891): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0006 | a0006c0008 | a0006c0008t0015 | a0006c0008t0015g0231 | 1 | 8 | 0.1250 | 898 | c.250 others(913): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(891): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0006 | a0006c0008 | a0006c0008t0015 | a0006c0008t0015g0233 | 1 | 8 | 0.1250 | 898 | c.250 others(913): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(891): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 8 | 0.1250 | 898 | c.250 others(913): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(891): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 130 | 0.0077 | 898 | c.148 others(917): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
NEDD4L_chr18_58039226_58406539 | 58209261 | T | TCCTCCCC others(891): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(3): Show | a0001c0001t0001g0106 a0001c0001t0009g0003 a0001c0001t0013g0088 others(3): Show |
6 | 61 | 0.0984 | 898 | c.123 others(917): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15031631 | T | TGGAAGGC others(891): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18980.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0028 a0002c0003t0003g0060 |
2 | 353 | 0.0057 | 898 | c.-45 others(919): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(891): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0173 | 1 | 154 | 0.0065 | 898 | c.360 others(917): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(891): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0053 | 1 | 24 | 0.0417 | 898 | c.371 others(915): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(891): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0076 | 1 | 24 | 0.0417 | 898 | c.371 others(915): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325107 | A | AGTGAGTG others(891): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0155 | 1 | 358 | 0.0028 | 898 | c.194 others(915): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(891): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 2 | 0.5000 | 898 | c.-28 others(909): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGG others(891): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0040 | 1 | 235 | 0.0043 | 898 | c.126 others(917): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492477 | C | CCCAGGGC others(891): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0106 | 1 | 188 | 0.0053 | 898 | c.126 others(917): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(891): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03098.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008 | a0001c0001t0003g0041 a0001c0001t0004g0040 a0001c0001t0008g0034 |
3 | 9 | 0.3333 | 898 | c.27+ others(915): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(891): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0142 | 1 | 267 | 0.0037 | 898 | c.66+ others(913): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(891): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0013 | a0001c0013t0007 | a0001c0013t0007g0143 | 1 | 100 | 0.0100 | 898 | c.45- others(913): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GGTGGGGA others(891): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0007 | 1 | 102 | 0.0098 | 898 | c.351 others(917): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(891): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0022 | 1 | 20 | 0.0500 | 898 | c.351 others(917): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971120 | T | TGAGGAGG others(891): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0109 | 1 | 345 | 0.0029 | 898 | c.157 others(917): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1741764 | A | AGCAGGAC others(891): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 437 | 0.0023 | 898 | c.-11 others(909): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1106 | chr17 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852292 | C | CCCACCCC others(891): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0010 | 1 | 338 | 0.0030 | 898 | c.645 others(915): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |