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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NEU4_chr2_241804193_241822413 | 241805291 | TCCCCCCT others(2318): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 273 | 0.0037 | -2325 | c.-39 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3901 | chr2 | TogoVar | |||||||
NR3C2_chr4_148073764_148447414 | 148178145 | CTGGCAAA others(2317): Show |
C | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 168 | 0.0060 | -2324 | c.201 others(21): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
CST4_chr20_23680640_23694038 | 23691262 | GATGGATC others(2316): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02572.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0007 a0002c0003t0004g0032 |
7 | 450 | 0.0156 | -2323 | c.-46 others(11): Show |
CST4 | ENSG00000101441.5 | transcript | ENST00000217423.4 | protein_coding | 2225 | chr20 | TogoVar | |||||||
KRTAP5-5_chr11_1624775_1635930 | 1632975 | CGGAATTC others(2316): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00733.hp2 others(52): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0005c0005others(6): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0002others(9): Show | a0001c0001t0001g0000 a0001c0001t0009g0000 a0002c0002t0002g0000 others(9): Show |
55 | 444 | 0.1239 | -2323 | c.*24 others(11): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 2046 | chr11 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76170754 | TAAAAATT others(2315): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02886.hp1 HG02895.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0013a0001c0001t0065a0001c0001t0068others(4): Show | a0001c0001t0013g0085 a0001c0001t0065g0233 a0001c0001t0068g0092 others(4): Show |
7 | 232 | 0.0302 | -2322 | c.581 others(19): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HK2_chr2_74829127_74898359 | 74864959 | GCTGCTGA others(2314): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0023 | a0002c0023t0006 | a0002c0023t0006g0374 | 1 | 392 | 0.0026 | -2321 | c.227 others(16): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GOLGA1_chr9_124873275_124946083 | 124934019 | AGTCCTCC others(2306): Show |
A | intron_variant | MODIFIER | NA18952.hp2 NA19005.hp1 NA19006.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 |
3 | 372 | 0.0081 | -2313 | c.135 others(17): Show |
GOLGA1 | ENSG00000136935.14 | transcript | ENST00000373555.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
TM4SF20_chr2_227357038_227384306 | 227365989 | AGTTGCAT others(2306): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02129.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0116 | 1 | 468 | 0.0021 | -2313 | c.250 others(16): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169596096 | GAAAATAT others(2305): Show |
G | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0083 | 1 | 160 | 0.0063 | -2312 | c.37+ others(17): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44932369 | TCCTTATT others(2301): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 298 | 0.0034 | -2308 | c.121 others(19): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3685658 | CCCAGCCT others(2300): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0169 | 1 | 205 | 0.0049 | -2307 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47389456 | GAGGCGGG others(2300): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 214 | 0.0047 | -2307 | c.526 others(17): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF616_chr19_52108091_52144938 | 52142631 | TGAAAGCA others(2300): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0168 | 1 | 412 | 0.0024 | -2307 | c.-52 others(11): Show |
ZNF616 | ENSG00000204611.7 | transcript | ENST00000600228.6 | protein_coding | 2694 | chr19 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1639432 | ATGCTTCA others(2299): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0111 | 1 | 221 | 0.0045 | -2306 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134607041 | GACAGACC others(2298): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 220 | 0.0045 | -2305 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
EMID1_chr22_29200896_29264597 | 29237097 | TATTTTCT others(2297): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00609.hp1 others(69): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0072 others(66): Show |
72 | 346 | 0.2081 | -2304 | c.107 others(19): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51449479 | TATTAAAT others(2297): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | 150 | 0.0267 | -2304 | c.562 others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | TogoVar | |||||||
STAU1_chr20_49108339_49193334 | 49125573 | GCGGTGGC others(2296): Show |
G | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 364 | 0.0027 | -2303 | c.610 others(16): Show |
STAU1 | ENSG00000124214.21 | transcript | ENST00000371856.7 | protein_coding | 6/13 | chr20 | TogoVar | |||||||
METTL21A_chr2_207607739_207630394 | 207609758 | TAGAAAAC others(2295): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(352): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 others(93): Show |
355 | 384 | 0.9245 | -2302 | c.*98 others(10): Show |
METTL21A | ENSG00000144401.14 | transcript | ENST00000411432.6 | protein_coding | 2980 | chr2 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15931585 | GAGAGGAA others(2293): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0103 | a0001c0004t0103g0213 | 1 | 376 | 0.0027 | -2300 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1398564 | ATCCTCCT others(2293): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | -2300 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132232257 | TCCCTAGT others(2293): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02683.hp1 NA18964.hp2 others(3): Show |
a0001a0005 | a0001c0011a0001c0013a0001c0020others(1): Show | a0001c0011t0001a0001c0013t0004a0001c0020t0001others(1): Show | a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0013t0004g0036 others(3): Show |
6 | 176 | 0.0341 | -2300 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16132148 | CAAAGAGT others(2292): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(118): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(36): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0070 others(118): Show |
121 | 288 | 0.4201 | -2299 | c.125 others(21): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 9/9 | chr7 | TogoVar | |||||||
GGACT_chr13_100525180_100593789 | 100557000 | ATGCCTCA others(2291): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA18984.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0303 a0001c0001t0001g0304 |
3 | 374 | 0.0080 | -2298 | c.-11 others(19): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 2/2 | chr13 | TogoVar | |||||||
ZNF678_chr1_227558556_227667461 | 227589041 | ACCTTTGT others(2291): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02486.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0003a0004c0004t0002 | a0001c0001t0002g0036 a0001c0001t0002g0298 a0001c0001t0003g0213 others(1): Show |
6 | 392 | 0.0153 | -2298 | c.-16 others(21): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NLN_chr5_65717205_65834283 | 65732256 | TAGAAAGA others(2290): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG00735.hp1 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0002g0257 a0001c0001t0004g0265 a0001c0001t0004g0270 others(56): Show |
62 | 334 | 0.1856 | -2297 | c.41+ others(16): Show |
NLN | ENSG00000123213.23 | transcript | ENST00000380985.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRAPPC9_chr8_139722725_140462744 | 139960609 | TCAAGTCT others(2290): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0024others(9): Show | a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0071 others(15): Show |
18 | 96 | 0.1875 | -2297 | c.281 others(21): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 19/22 | chr8 | TogoVar | |||||||
PHF8_chrX_53931680_54049473 | 53969591 | ATGACATT others(2289): Show |
A | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 184 | 0.0054 | -2296 | c.244 others(19): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 18/21 | chrX | TogoVar | |||||||
VAV1_chr19_6767708_6862361 | 6858760 | TCTTGCTC others(2289): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0025 a0001c0001t0002g0041 others(6): Show |
9 | 304 | 0.0296 | -2296 | c.*16 others(11): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1400 | chr19 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60653742 | TATATTTA others(2287): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(45): Show |
49 | 290 | 0.1690 | -2294 | c.315 others(17): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1015145 | GTGTGACC others(2286): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 40 | 0.0250 | -2293 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNMT3L_chr21_44241339_44266897 | 44264358 | GATGGTCT others(2286): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 2 | 390 | 0.0051 | -2293 | c.-49 others(11): Show |
DNMT3L | ENSG00000142182.9 | transcript | ENST00000628202.3 | protein_coding | 2462 | chr21 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31886118 | GTAACTCC others(2286): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 214 | 0.0047 | -2293 | c.476 others(19): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | |||||||
WWOX_chr16_78094654_79217667 | 78259447 | CTGCCGAC others(2286): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0110 | 1 | 141 | 0.0071 | -2293 | c.516 others(19): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZNF473_chr19_50021005_50053776 | 50051484 | CGAGTGGC others(2285): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01109.hp2 others(20): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0019 a0002c0002t0002g0061 a0002c0002t0002g0062 others(16): Show |
23 | 414 | 0.0556 | -2292 | c.*44 others(11): Show |
ZNF473 | ENSG00000142528.16 | transcript | ENST00000270617.8 | protein_coding | 2709 | chr19 | TogoVar | |||||||
DHDH_chr19_48928699_48949969 | 48935479 | CCACTGCA others(2284): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG03704.hp1 | a0017 | a0017c0026 | a0017c0026t0001 | a0017c0026t0001g0175 | 1 | 434 | 0.0023 | -2291 | c.202 others(16): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805361 | ACCTTCCC others(2282): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 288 | 0.0035 | -2289 | c.*11 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1075 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241805361 | ACCTTCCC others(2282): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 297 | 0.0034 | -2289 | c.-39 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3831 | chr2 | TogoVar | |||||||
WWOX_chr16_78094654_79217667 | 78259447 | CTGCCGAC others(2282): Show |
C | intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0066 | 1 | 141 | 0.0071 | -2289 | c.516 others(19): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ARK2N_chr18_46169034_46271992 | 46193346 | ATGGCATG others(2280): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0007g0077 |
3 | 318 | 0.0094 | -2287 | c.-71 others(19): Show |
ARK2N | ENSG00000152242.11 | transcript | ENST00000615052.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANGPTL6_chr19_10087338_10107678 | 10101606 | AAGACCAG others(2278): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG00099.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 a0001c0001t0003g0134 |
2 | 460 | 0.0043 | -2285 | c.-13 others(13): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
PPAN_chr19_10101362_10117012 | 10101606 | AAGACCAG others(2278): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 440 | 0.0045 | -2285 | c.-47 others(11): Show |
PPAN | ENSG00000130810.20 | transcript | ENST00000253107.12 | protein_coding | 4755 | chr19 | TogoVar | |||||||
PNLIPRP3_chr10_116422847_116482957 | 116480674 | CTGTCAGG others(2276): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0239 | 1 | 286 | 0.0035 | -2283 | c.*35 others(11): Show |
PNLIPRP3 | ENSG00000203837.5 | transcript | ENST00000369230.4 | protein_coding | 2718 | chr10 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101241792 | CCATCCTT others(2274): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0041 others(73): Show |
76 | 174 | 0.4368 | -2281 | c.126 others(19): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 11/43 | chr13 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51533462 | TTAAAGTT others(2274): Show |
T | intron_variant | MODIFIER | HG03669.hp1 HG03669.hp2 NA18956.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0011a0002c0021a0003c0003others(1): Show | a0001c0011t0002a0002c0021t0002a0003c0003t0001others(1): Show | a0001c0011t0002g0099 a0002c0021t0002g0092 a0003c0003t0001g0021 others(2): Show |
5 | 120 | 0.0417 | -2281 | c.380 others(19): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
ARID5B_chr10_61896699_62101944 | 61915592 | TGGAGGGA others(2273): Show |
T | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0104 | 1 | 242 | 0.0041 | -2280 | c.276 others(19): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113044263 | TATGAAAT others(2273): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01257.hp2 |
a0001a0003a0011 | a0001c0024a0003c0002a0011c0022 | a0001c0024t0002a0003c0002t0001a0011c0022t0001 | a0001c0024t0002g0024 a0003c0002t0001g0021 a0011c0022t0001g0013 |
3 | 78 | 0.0385 | -2280 | c.918 others(19): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217675515 | TGTGGCTG others(2273): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0123 | 1 | 250 | 0.0040 | -2280 | c.291 others(17): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GTPBP2_chr6_43615494_43634264 | 43630692 | GAGATCAC others(2272): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 380 | 0.0026 | -2279 | c.-38 others(11): Show |
GTPBP2 | ENSG00000172432.19 | transcript | ENST00000307126.10 | protein_coding | 1429 | chr6 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 744812 | GCCCGGGG others(2271): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0080 a0001c0001t0011g0083 a0001c0001t0011g0084 |
3 | 320 | 0.0094 | -2278 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |