| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUC22_chr6_31005474_31040402 | 31028366 | ATCACAGG others(1586): Show |
A | disruptive_inframe_deletion | MODERATE | NA19080.hp2 | a0081 | a0081c0111 | a0081c0111t0003 | a0081c0111t0003g0221 | 1 | 461 | 0.0022 | -1593 | c.296 others(9): Show |
p.Ala others(14): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3193/6019 | 2960/5322 | 987/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(1585): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0283 | 1 | 366 | 0.0027 | -1592 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ULK4_chr3_41241599_41967103 | 41375326 | ACAATCCT others(1585): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02572.hp1 others(7): Show |
a0001a0003a0017 | a0001c0001a0003c0002a0017c0019 | a0001c0001t0001a0001c0001t0003a0003c0002t0001others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0051others(7): Show | 10 | 72 | 0.1389 | -1592 | c.367 others(21): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | ||||||
| ODF1_chr8_102546589_102566018 | 102558704 | AAGAACAC others(1582): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 NA19043.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0026 | 3 | 460 | 0.0065 | -1589 | c.321 others(16): Show |
ODF1 | ENSG00000155087.4 | transcript | ENST00000285402.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1903278 | TTCATGAT others(1581): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0137a0001c0001t0005g0222 | 2 | 264 | 0.0076 | -1588 | c.180 others(19): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| SGSM2_chr17_2332501_2386054 | 2355299 | CCCCATAT others(1581): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 422 | 0.0024 | -1588 | c.134 others(17): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DLGAP1_chr18_3491032_4460307 | 3635343 | AGCCAGGA others(1580): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02155.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0021 | a0001c0001t0001g0004a0001c0001t0002g0008a0001c0003t0021g0027 | 3 | 80 | 0.0375 | -1587 | c.159 others(21): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343492 | GGCACTTT others(1579): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0106 | 1 | 190 | 0.0053 | -1586 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1344177 | TTTTCCCC others(1579): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0108 | 1 | 190 | 0.0053 | -1586 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393190 | GGGTGGTC others(1579): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0024 | a0001c0024t0120 | a0001c0024t0120g0274 | 1 | 346 | 0.0029 | -1586 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| HMCN1_chr1_185729391_186195949 | 185814580 | GAGTTACT others(1578): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(6): Show |
a0001a0008a0015others(1): Show | a0001c0001a0001c0027a0008c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0027t0002others(4): Show | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0089others(6): Show | 9 | 92 | 0.0978 | -1585 | c.269 others(19): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COL23A1_chr5_178232618_178595393 | 178394895 | TGTCCTCC others(1577): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG03669.hp2 HG04115.hp2 others(4): Show |
a0001a0005a0012 | a0001c0001a0001c0004a0005c0008others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0119a0001c0001t0004g0037a0001c0001t0004g0043others(4): Show | 7 | 236 | 0.0297 | -1584 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178395159 | CGTCCTCC others(1577): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0002g0048a0001c0001t0002g0148others(30): Show | 33 | 236 | 0.1398 | -1584 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154061921 | GGACCCCC others(1577): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG02280.hp1 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0015a0001c0018others(2): Show | a0001c0003t0007a0001c0015t0017a0001c0018t0009others(2): Show | a0001c0003t0007g0024a0001c0015t0017g0036a0001c0018t0009g0023others(2): Show | 5 | 38 | 0.1316 | -1584 | c.243 others(18): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MUC4_chr3_195741771_195816929 | 195786322 | GCTGAGGA others(1577): Show |
G | disruptive_inframe_deletion | MODERATE | HG01891.hp1 | a0107 | a0107c0041 | a0107c0041t0001 | a0107c0041t0001g0179 | 1 | 249 | 0.0040 | -1584 | c.367 others(9): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5369/16756 | 3674/16239 | 1225/5412 | chr3 | TogoVar | ||
| NBPF20_chr1_145285005_145430603 | 145305893 | CTCCCACG others(1577): Show |
C | exon_loss_variant | HIGH | HG01358.hp2 NA19085.hp1 |
a0005a0006 | a0005c0002a0006c0006 | a0005c0002t0001a0006c0006t0003 | a0005c0002t0001g0003a0006c0006t0003g0002 | 2 | 6 | 0.3333 | -1584 | c.143 others(11): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 124/143 | 15732/19578 | chr1 | TogoVar | |||||
| ST3GAL4_chr11_126350686_126419638 | 126395959 | CCCGGGCT others(1577): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0106a0001c0001t0001g0215a0001c0001t0008g0214 | 3 | 324 | 0.0093 | -1584 | c.-60 others(18): Show |
ST3GAL4 | ENSG00000110080.20 | transcript | ENST00000444328.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 898005 | GCAGTCAG others(1577): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 402 | 0.0025 | -1584 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CDH18_chr5_19466296_19993200 | 19533930 | TAAATATC others(1576): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 138 | 0.0073 | -1583 | c.139 others(19): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 9/12 | chr5 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280707 | GAGAGAGA others(1576): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0014 | a0004c0014t0005 | a0004c0014t0005g0007 | 1 | 50 | 0.0200 | -1583 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1401128 | CGCCCCCT others(1576): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | -1583 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143863366 | GACGCCCG others(1576): Show |
G | frameshift_variant | HIGH | NA18944.hp2 | a0200 | a0200c0250 | a0200c0250t0001 | a0200c0250t0001g0317 | 1 | 424 | 0.0024 | -1583 | c.830 others(9): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9962/16005 | 8305/15267 | 2769/5088 | chr8 | TogoVar | ||
| P2RX5_chr17_3668227_3701155 | 3686153 | GCCCCCAG others(1576): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 362 | 0.0028 | -1583 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144624631 | TCACTGCA others(1574): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02630.hp1 HG02886.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0011 | a0001c0001t0003a0001c0001t0021a0001c0004t0006others(1): Show | a0001c0001t0003g0023a0001c0001t0003g0068a0001c0001t0003g0071others(8): Show | 11 | 246 | 0.0447 | -1581 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| C15orf61_chr15_67516131_67535146 | 67518481 | GCCAGGAT others(1574): Show |
G | upstream_gene_variant | MODIFIER | HG02129.hp1 HG02155.hp2 NA19074.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0023 | 4 | 416 | 0.0096 | -1581 | c.-27 others(11): Show |
C15orf61 | ENSG00000189227.6 | transcript | ENST00000342683.6 | protein_coding | 2649 | chr15 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144624716 | CCCGGTTC others(1573): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 246 | 0.0041 | -1580 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| DOP1B_chr21_36151824_36299274 | 36270290 | CGCCTGTA others(1573): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02258.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0015a0005c0014 | a0001c0002t0001a0001c0015t0001a0005c0014t0001 | a0001c0002t0001g0179a0001c0015t0001g0176a0001c0015t0001g0177others(2): Show | 5 | 292 | 0.0171 | -1580 | c.563 others(18): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 898272 | GTCAGTGT others(1573): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01169.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0028a0001c0001t0002g0029others(3): Show | 14 | 402 | 0.0348 | -1580 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATG5_chr6_106179476_106330760 | 106321552 | ATTTCACC others(1572): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 358 | 0.0028 | -1579 | c.-59 others(17): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| CTNNA3_chr10_65907523_67701195 | 66301140 | ATGAATAG others(1572): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0011 | 1 | 46 | 0.0217 | -1579 | c.173 others(21): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148890 | ACCTCGGT others(1572): Show |
A | intron_variant | MODIFIER | NA18979.hp1 NA19066.hp1 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0278a0002c0009t0001g0279 | 2 | 294 | 0.0068 | -1579 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132148962 | TACCACAC others(1572): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 294 | 0.0034 | -1579 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDE10A_chr6_165322289_165668241 | 165500531 | CCATTCTC others(1571): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 222 | 0.0045 | -1578 | c.995 others(19): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
| RIC1_chr9_5624107_5781557 | 5750020 | ACCTGCCT others(1571): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0150a0001c0001t0005g0151a0001c0001t0005g0152others(1): Show | 4 | 328 | 0.0122 | -1578 | c.145 others(19): Show |
RIC1 | ENSG00000107036.12 | transcript | ENST00000414202.7 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393028 | CAGGTGGT others(1571): Show |
C | intron_variant | MODIFIER | HG01934.hp2 NA18949.hp2 |
a0001 | a0001c0001a0001c0033 | a0001c0001t0003a0001c0033t0003 | a0001c0001t0003g0258a0001c0033t0003g0260 | 2 | 346 | 0.0058 | -1578 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| KPNA4_chr3_160490007_160570571 | 160516290 | CTCCAAGA others(1570): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0102 | 1 | 308 | 0.0033 | -1577 | c.904 others(16): Show |
KPNA4 | ENSG00000186432.10 | transcript | ENST00000334256.9 | protein_coding | 11/16 | chr3 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127635 | AGGCTGGA others(1569): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0083 | 2 | 326 | 0.0061 | -1576 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| DECR2_chr16_396885_417482 | 412601 | GCCCAGGC others(1569): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp2 NA18612.hp2 NA18946.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0065others(1): Show | 5 | 367 | 0.0136 | -1576 | c.*71 others(10): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 120 | chr16 | TogoVar | ||||||
| KLK4_chr19_50901351_50916395 | 50903499 | AGAGTAGC others(1569): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(89): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0002g0109a0001c0001t0003g0021a0001c0001t0003g0025others(24): Show | 92 | 414 | 0.2222 | -1576 | c.*18 others(11): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2851 | chr19 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(1568): Show |
G | intron_variant | MODIFIER | NA19064.hp1 | a0015 | a0015c0026 | a0015c0026t0001 | a0015c0026t0001g0114 | 1 | 185 | 0.0054 | -1575 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408439 | GCAGGAGG others(1568): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0093 | 1 | 185 | 0.0054 | -1575 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3173941 | CTCTCATG others(1568): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -1575 | c.-48 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4827 | chr19 | TogoVar | ||||||
| PRRC2B_chr9_131389086_131505193 | 131400284 | GCCATTTT others(1567): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0019 | 1 | 216 | 0.0046 | -1574 | c.-52 others(17): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NBPF20_chr1_145285005_145430603 | 145354099 | TAAATGAT others(1566): Show |
T | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 6 | 0.1667 | -1573 | c.689 others(17): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 64/143 | chr1 | TogoVar | ||||||
| NBPF20_chr1_145285005_145430603 | 145358846 | TAAATGAT others(1566): Show |
T | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 6 | 0.1667 | -1573 | c.616 others(17): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 58/143 | chr1 | TogoVar | ||||||
| NBPF20_chr1_145285005_145430603 | 145363600 | TAAATGAT others(1566): Show |
T | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 6 | 0.1667 | -1573 | c.543 others(17): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 52/143 | chr1 | TogoVar | ||||||
| COL22A1_chr8_138583235_138919041 | 138763148 | GGGCTGAG others(1565): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 158 | 0.0063 | -1572 | c.180 others(18): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 16/64 | chr8 | TogoVar | ||||||
| CATSPER2_chr15_43623503_43653844 | 43625017 | AGCCTGAG others(1561): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 392 | 0.0026 | -1568 | c.*41 others(11): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 3485 | chr15 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129088004 | CTCCATGA others(1561): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG02818.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0009 | a0001c0001t0001g0013a0001c0001t0003g0063a0002c0003t0009g0017others(1): Show | 4 | 94 | 0.0426 | -1568 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| HBA1_chr16_171680_182522 | 179343 | AAAAAGAA others(1560): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | -1567 | c.*19 others(11): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 1822 | chr16 | TogoVar |