| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AUTS2_chr7_69593475_70798506 | 70376620 | CTGCTCTC others(1529): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 76 | 0.0132 | -1536 | c.661 others(19): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GALNT9_chr12_132191372_132334589 | 132233446 | CGTGGAGT others(1529): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0023 | a0005c0023t0005 | a0005c0023t0005g0028 | 1 | 183 | 0.0055 | -1536 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(1529): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0275 | 1 | 366 | 0.0027 | -1536 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| THEG_chr19_356747_381026 | 360120 | CTTTGACT others(1529): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(36): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0004a0003c0012others(6): Show | a0001c0001t0004a0003c0004t0004a0003c0004t0009others(9): Show | a0001c0001t0004g0012a0003c0004t0004g0001a0003c0004t0004g0192others(32): Show | 39 | 370 | 0.1054 | -1536 | c.*54 others(10): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1626 | chr19 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148890 | ACCTCGGT others(1528): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA18955.hp1 NA18986.hp2 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0095a0002c0002t0001g0243a0002c0009t0001g0277 | 3 | 294 | 0.0102 | -1535 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744985 | CCGGGGGT others(1528): Show |
C | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0273 | 1 | 366 | 0.0027 | -1535 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PDS5B_chr13_32581452_32783019 | 32597224 | TGTAGAGA others(1526): Show |
T | intron_variant | MODIFIER | HG03225.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0287a0001c0001t0012g0288 | 2 | 334 | 0.0060 | -1533 | c.-20 others(19): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | chr13 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237688 | GCCTCCCG others(1524): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0032 | 1 | 106 | 0.0094 | -1531 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| BBS9_chr7_33124564_33611069 | 33138225 | CCTATAAA others(1524): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01975.hp1 HG01981.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0001c0026others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(27): Show | 30 | 268 | 0.1119 | -1531 | c.-11 others(17): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
| MAVS_chr20_3841834_3881118 | 3851709 | GCTTTGGG others(1524): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0003 | a0003c0004 | a0003c0004t0116 | a0003c0004t0116g0038 | 1 | 420 | 0.0024 | -1531 | c.-67 others(17): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PDS5B_chr13_32581452_32783019 | 32597226 | TAGAGATG others(1524): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0290 | 1 | 334 | 0.0030 | -1531 | c.-20 others(19): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | chr13 | TogoVar | ||||||
| ACBD6_chr1_180283230_180507577 | 180303273 | GATAGAGA others(1523): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00642.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(11): Show | 14 | 334 | 0.0419 | -1530 | c.694 others(18): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127627 | TGTCACCC others(1523): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03225.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0289a0001c0001t0003g0290a0001c0001t0012g0292 | 3 | 326 | 0.0092 | -1530 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127635 | AGGCTGGA others(1523): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0249a0001c0001t0003g0250a0001c0001t0019g0324others(1): Show | 4 | 326 | 0.0123 | -1530 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| DOK6_chr18_69395888_69854087 | 69505751 | ACTCCCAA others(1523): Show |
A | intron_variant | MODIFIER | NA18966.hp2 NA18971.hp2 |
a0002 | a0002c0004 | a0002c0004t0019 | a0002c0004t0019g0083a0002c0004t0019g0084 | 2 | 170 | 0.0118 | -1530 | c.67- others(17): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GFPT1_chr2_69314780_69392227 | 69340219 | GAGGCATG others(1523): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 366 | 0.0027 | -1530 | c.120 others(18): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 13/19 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121334594 | AGCCACGG others(1522): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0005 | 1 | 214 | 0.0047 | -1529 | c.*47 others(11): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 3181 | chr2 | TogoVar | ||||||
| DENND4C_chr9_19225693_19379281 | 19272870 | TGATTCTC others(1521): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0043a0001c0009t0002g0067 | 2 | 292 | 0.0069 | -1528 | c.-17 others(17): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61943513 | CGTCTGCA others(1520): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp2 HG03704.hp1 |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0014 | a0002c0002t0012g0104a0002c0002t0014g0062 | 2 | 106 | 0.0189 | -1527 | c.*65 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2897 | chr20 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2034460 | CCCTCCAA others(1520): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02647.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0050a0001c0001t0002g0090a0001c0001t0008g0009others(7): Show | 10 | 104 | 0.0962 | -1527 | c.-15 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| UNC13B_chr9_35157009_35410335 | 35372524 | CCCCTGTG others(1520): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(53): Show |
a0001a0002a0009others(8): Show | a0001c0001a0002c0003a0002c0004others(13): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(14): Show | a0001c0001t0001g0143a0002c0003t0001g0024a0002c0003t0001g0026others(53): Show | 56 | 224 | 0.2500 | -1527 | c.954 others(18): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| UNC13B_chr9_35157009_35410335 | 35372827 | GGGGCCCT others(1519): Show |
G | intron_variant | MODIFIER | HG02895.hp2 NA19068.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0197a0003c0002t0001g0079 | 2 | 224 | 0.0089 | -1526 | c.954 others(18): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84433173 | ATATTGTT others(1518): Show |
A | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0226 | 1 | 370 | 0.0027 | -1525 | c.186 others(19): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PPP1R13B_chr14_103728195_103852575 | 103779172 | TCAGCTAC others(1518): Show |
T | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 332 | 0.0030 | -1525 | c.278 others(16): Show |
PPP1R13B | ENSG00000088808.18 | transcript | ENST00000202556.14 | protein_coding | 3/16 | chr14 | TogoVar | ||||||
| CCPG1_chr15_55350239_55413359 | 55363339 | GCTCCATC others(1517): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01106.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0024a0001c0002t0001g0007a0001c0002t0001g0008others(45): Show | 51 | 354 | 0.1441 | -1524 | c.828 others(16): Show |
CCPG1 | ENSG00000260916.8 | transcript | ENST00000442196.8 | protein_coding | 7/8 | chr15 | TogoVar | ||||||
| CCDC127_chr5_191868_223153 | 211766 | TGAGACAG others(1516): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0164 | a0001c0001t0164g0232 | 1 | 406 | 0.0025 | -1523 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| TUBGCP5_chr15_22994177_23044569 | 23043046 | TTCACCTG others(1516): Show |
T | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 351 | 0.0029 | -1523 | c.-50 others(11): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3478 | chr15 | TogoVar | ||||||
| XPO6_chr16_28092976_28216965 | 28121910 | AGGAAATA others(1516): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 308 | 0.0033 | -1523 | c.176 others(18): Show |
XPO6 | ENSG00000169180.12 | transcript | ENST00000304658.10 | protein_coding | 13/23 | chr16 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320281 | CACTCACG others(1515): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01169.hp2 HG01192.hp1 |
a0023a0051 | a0023c0142a0023c0143a0051c0129 | a0023c0142t0001a0023c0143t0001a0051c0129t0004 | a0023c0142t0001g0168a0023c0143t0001g0166a0051c0129t0004g0144 | 3 | 256 | 0.0117 | -1522 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SPIDR_chr8_47255938_47741306 | 47546122 | AATGGATT others(1515): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02965.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0120a0004c0004t0002g0121a0004c0004t0002g0122others(1): Show | 4 | 216 | 0.0185 | -1522 | c.109 others(21): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGAP32_chr11_128960060_129197325 | 129037300 | CAGCCTAT others(1514): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 398 | 0.0025 | -1521 | c.104 others(19): Show |
ARHGAP32 | ENSG00000134909.19 | transcript | ENST00000682385.1 | protein_coding | 11/22 | chr11 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932385 | GAGAGGAA others(1513): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0205 | 1 | 386 | 0.0026 | -1520 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| SPDYE1_chr7_43992897_44015124 | 44000897 | GGAAGGAG others(1513): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG01358.hp1 | a0015 | a0015c0016 | a0015c0016t0001 | a0015c0016t0001g0118 | 1 | 394 | 0.0025 | -1520 | c.161 others(15): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CEP72_chr5_607340_658553 | 631843 | AGTCCTGG others(1512): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0070a0002c0002t0001g0071a0002c0002t0001g0072others(16): Show | 19 | 91 | 0.2088 | -1519 | c.513 others(16): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 321751 | CTGTTAGA others(1512): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA20129.hp1 |
a0001 | a0001c0002a0001c0022 | a0001c0002t0003a0001c0022t0003 | a0001c0002t0003g0006a0001c0022t0003g0002 | 2 | 88 | 0.0227 | -1519 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| GCNT2_chr6_10516351_10634368 | 10520791 | TCCCCAGT others(1511): Show |
T | splice_donor_variant others(4): Show |
HIGH | HG02976.hp2 NA19043.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0027 | a0001c0001t0011g0001a0001c0001t0011g0002a0001c0001t0027g0003 | 3 | 324 | 0.0093 | -1518 | c.-10 others(14): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MCF2L_chr13_112964214_113104742 | 113067804 | GGAGGCAG others(1511): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0005 | a0005c0014 | a0005c0014t0024 | a0005c0014t0024g0100 | 1 | 116 | 0.0086 | -1518 | c.881 others(16): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PPP2R2C_chr4_6315581_6477614 | 6420263 | TTGCCCAG others(1511): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0234 | 3 | 298 | 0.0101 | -1518 | c.71- others(17): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| TLN2_chr15_62385550_62849631 | 62663348 | TAATAGTT others(1511): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0008a0001c0010others(1): Show | a0001c0002t0004a0001c0008t0004a0001c0010t0001others(1): Show | a0001c0002t0004g0083a0001c0008t0004g0086a0001c0010t0001g0035others(1): Show | 4 | 144 | 0.0278 | -1518 | c.788 others(17): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 9/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PSG7_chr19_42919132_42942207 | 42935895 | CACACACA others(1510): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG03831.hp2 | a0004 | a0004c0029 | a0004c0029t0017 | a0004c0029t0017g0353 | 1 | 416 | 0.0024 | -1517 | c.-33 others(11): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3173999 | CCTCATGG others(1510): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(44): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(1): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0012t0001g0000others(1): Show | 47 | 418 | 0.1124 | -1517 | c.-47 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4769 | chr19 | TogoVar | ||||||
| ARL15_chr5_53878942_54315573 | 54090916 | ATGAGTCA others(1509): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160a0001c0001t0002g0168 | 2 | 206 | 0.0097 | -1516 | c.462 others(19): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
| GATD1_chr11_762222_782487 | 780972 | TCAGGAGT others(1508): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 1 | 430 | 0.0023 | -1515 | c.-50 others(11): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3486 | chr11 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154298855 | GGGAAGCT others(1508): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01071.hp1 HG01169.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0022a0001c0001t0001g0108others(34): Show | 37 | 264 | 0.1402 | -1515 | c.-61 others(18): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| KCNAB1_chr3_156115578_156543605 | 156374387 | ATTCCTGA others(1508): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01261.hp1 HG01346.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0027others(50): Show | 53 | 124 | 0.4274 | -1515 | c.276 others(19): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | chr3 | TogoVar | ||||||
| PCYT1A_chr3_196229368_196292726 | 196254595 | TCTGCCTT others(1506): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0251 | 1 | 310 | 0.0032 | -1513 | c.217 others(17): Show |
PCYT1A | ENSG00000161217.12 | transcript | ENST00000431016.6 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 990791 | GCCCAGAC others(1505): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 40 | 0.0250 | -1512 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241806538 | CCCCCTCA others(1505): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 319 | 0.0031 | -1512 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2654 | chr2 | TogoVar | ||||||
| CATSPERD_chr19_5715637_5783734 | 5722919 | GGGCTCAC others(1504): Show |
G | intron_variant | MODIFIER | HG03704.hp1 HG04228.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049a0002c0002t0001g0050 | 2 | 336 | 0.0060 | -1511 | c.72- others(14): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765569 | AGCCCCGG others(1504): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0231 | 1 | 412 | 0.0024 | -1511 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | chr2 | TogoVar |