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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRP1B_chr2_140226423_142136016 | 141593429 | TAAGAAGG others(318): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG01884.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(19): Show | a0001c0001t0006a0001c0002t0010a0001c0007t0003others(19): Show | a0001c0001t0006g0024a0001c0002t0010g0022a0001c0007t0003g0003others(19): Show | 22 | 28 | 0.7857 | -325 | c.206 others(21): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 2/90 | chr2 | TogoVar | ||||||
MCUB_chr4_109555246_109693719 | 109577584 | TGGGTACT others(318): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(213): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0014others(208): Show | 216 | 336 | 0.6429 | -325 | c.99+ others(17): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MS4A8_chr11_60694612_60720807 | 60713898 | TGGTGATG others(318): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003 | a0001c0001t0004g0035a0002c0002t0003g0016a0002c0002t0003g0024others(8): Show | 18 | 402 | 0.0448 | -325 | c.535 others(16): Show |
MS4A8 | ENSG00000166959.8 | transcript | ENST00000300226.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126484619 | TCCACTGT others(318): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00639.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0034a0001c0001t0001g0232a0001c0001t0001g0256others(65): Show | 69 | 318 | 0.2170 | -325 | c.873 others(15): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MYO7B_chr2_127530683_127642726 | 127617475 | ACTTGTAA others(318): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0044 | a0001c0044t0003 | a0001c0044t0003g0077 | 1 | 282 | 0.0036 | -325 | c.339 others(19): Show |
MYO7B | ENSG00000169994.20 | transcript | ENST00000409816.8 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57688078 | TATATATG others(318): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 352 | 0.0028 | -325 | c.*35 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2715 | chr15 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805674 | CCCCCCTC others(318): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 319 | 0.0031 | -325 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3518 | chr2 | TogoVar | ||||||
NIPAL3_chr1_24410802_24477976 | 24461307 | CGAGGCAG others(318): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005a0001c0001t0004g0150a0001c0001t0004g0151others(2): Show | 7 | 380 | 0.0184 | -325 | c.926 others(16): Show |
NIPAL3 | ENSG00000001461.17 | transcript | ENST00000374399.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NKD2_chr5_1003802_1043943 | 1024719 | GTGGGCGT others(318): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 319 | 0.0031 | -325 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
OSTM1_chr6_108036409_108079741 | 108046270 | CCGGCCTC others(318): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0032a0001c0001t0033 | a0001c0001t0012g0111a0001c0001t0012g0112a0001c0001t0012g0113others(3): Show | 6 | 388 | 0.0155 | -325 | c.950 others(17): Show |
OSTM1 | ENSG00000081087.16 | transcript | ENST00000193322.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106498865 | TAAAGAAT others(318): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0017a0001c0001t0001g0025a0001c0001t0001g0033others(99): Show | 102 | 172 | 0.5930 | -325 | c.24- others(17): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
P2RX5_chr17_3668227_3701155 | 3686046 | CCCCCCGC others(318): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 362 | 0.0055 | -325 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3687168 | CCCCCTCC others(318): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 362 | 0.0028 | -325 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28265719 | GTTTTTTT others(318): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(153): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0021others(153): Show | 156 | 252 | 0.6191 | -325 | c.141 others(17): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PARD3_chr10_34104561_34820296 | 34395540 | CAAGAAAA others(318): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp1 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0048a0001c0001t0001g0058a0001c0001t0001g0059others(78): Show | 81 | 100 | 0.8100 | -325 | c.890 others(17): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 7/24 | chr10 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109342217 | GCCCGGCC others(318): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 346 | 0.0029 | -325 | c.200 others(19): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155693168 | TAAGAAAG others(318): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(197): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(197): Show | 200 | 264 | 0.7576 | -325 | c.79+ others(17): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 2/22 | chr3 | TogoVar | ||||||
PPP1R13L_chr19_45374638_45410069 | 45400749 | ACACCCAG others(318): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(254): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(243): Show | 257 | 376 | 0.6835 | -325 | c.-21 others(17): Show |
PPP1R13L | ENSG00000104881.16 | transcript | ENST00000360957.10 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 343693 | GGAGGCGG others(318): Show |
G | intron_variant | MODIFIER | HG03471.hp1 HG03704.hp1 HG03834.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(4): Show | 7 | 25 | 0.2800 | -325 | c.103 others(19): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806009 | CCACCACC others(318): Show |
C | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0325 | 1 | 406 | 0.0025 | -325 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122122 | CGGTGGTG others(318): Show |
C | intron_variant | MODIFIER | HG02155.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0104a0001c0004t0002g0040 | 2 | 286 | 0.0070 | -325 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114085708 | GAAATCCC others(318): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 67 | 0.0149 | -325 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 240986556 | TTAAACAC others(318): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(97): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0020others(97): Show | 100 | 112 | 0.8929 | -325 | c.176 others(17): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
SACM1L_chr3_45684396_45750409 | 45726859 | TGCTTTAT others(318): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(196): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(11): Show | a0001c0002t0002g0004a0001c0002t0002g0008a0001c0002t0002g0009others(144): Show | 199 | 354 | 0.5622 | -325 | c.921 others(17): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC14A2_chr18_45610476_45688688 | 45681038 | TCTGAGGT others(318): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0003others(20): Show | a0001c0002a0001c0004a0001c0022others(30): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0009others(60): Show | a0001c0002t0003g0008a0001c0002t0003g0011a0001c0002t0003g0013others(362): Show | 379 | 402 | 0.9428 | -325 | c.256 others(18): Show |
SLC14A2 | ENSG00000132874.15 | transcript | ENST00000255226.11 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMAD2_chr18_47803957_47935659 | 47850301 | TATTATGT others(318): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0211 | a0001c0001t0211g0008 | 1 | 310 | 0.0032 | -325 | c.784 others(15): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
STK10_chr5_172037079_172193224 | 172087602 | TTTAAATT others(318): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01069.hp1 others(45): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0034others(26): Show | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0160others(45): Show | 48 | 232 | 0.2069 | -325 | c.168 others(19): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 10/18 | chr5 | TogoVar | ||||||
TBC1D5_chr3_17152168_17747631 | 17690190 | ATAAAAAT others(318): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(96): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(96): Show | 99 | 162 | 0.6111 | -325 | c.-10 others(21): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
WBP1L_chr10_102738948_102821262 | 102768365 | TTTTTTGT others(318): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(33): Show | a0001c0001t0002g0006a0001c0001t0002g0019a0001c0001t0002g0044others(268): Show | 277 | 360 | 0.7694 | -325 | c.90+ others(17): Show |
WBP1L | ENSG00000166272.18 | transcript | ENST00000448841.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACBD6_chr1_180283230_180507577 | 180323854 | TTACTCTA others(317): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(319): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(318): Show | 322 | 334 | 0.9641 | -324 | c.664 others(17): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133548979 | TCACAGTT others(317): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0013others(106): Show | 109 | 152 | 0.7171 | -324 | c.939 others(17): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADCK5_chr8_144369047_144398242 | 144380546 | CAGGATTA others(317): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 346 | 0.0029 | -324 | c.116 others(17): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARSB_chr5_78772209_78990310 | 78980925 | TGAATTTC others(317): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(123): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0027others(302): Show | 306 | 360 | 0.8500 | -324 | c.312 others(17): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112863892 | CTGCGCAG others(317): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(22): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(45): Show | 48 | 254 | 0.1890 | -324 | c.299 others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1127635 | AGGCTGGA others(317): Show |
A | intron_variant | MODIFIER | NA18971.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184a0001c0001t0004g0185 | 2 | 326 | 0.0061 | -324 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1127711 | GATCCCAC others(317): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008 | a0001c0001t0005g0294a0001c0001t0005g0295a0001c0001t0007g0150others(1): Show | 4 | 326 | 0.0123 | -324 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181506798 | AACAGGGC others(317): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0012 | a0001c0012t0038 | a0001c0012t0038g0002 | 1 | 206 | 0.0049 | -324 | c.267 others(17): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73446429 | GAAAAAAA others(317): Show |
G | intron_variant | MODIFIER | HG00408.hp2 NA19066.hp2 NA19077.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0003t0001a0002c0001t0001others(1): Show | a0001c0002t0002g0306a0001c0003t0001g0307a0002c0001t0001g0247others(1): Show | 4 | 410 | 0.0098 | -324 | c.658 others(16): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102949179 | ATACCACT others(317): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0180 | 1 | 184 | 0.0054 | -324 | c.316 others(19): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 41/66 | chr1 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110222471 | TAAAGAAT others(317): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01928.hp1 HG01993.hp1 others(3): Show |
a0001a0002 | a0001c0006a0001c0010a0002c0028others(2): Show | a0001c0006t0001a0001c0010t0001a0002c0028t0003others(3): Show | a0001c0006t0001g0057a0001c0010t0001g0150a0002c0028t0003g0264others(3): Show | 6 | 344 | 0.0174 | -324 | c.145 others(17): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11338913 | ACAGTTCC others(317): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02258.hp1 HG02258.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0009others(21): Show | 24 | 26 | 0.9231 | -324 | c.162 others(19): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 9/21 | chr5 | TogoVar | ||||||
CXorf38_chrX_40621921_40652561 | 40645922 | TTCCTTTC others(317): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(295): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(164): Show | 298 | 304 | 0.9803 | -324 | c.351 others(16): Show |
CXorf38 | ENSG00000185753.13 | transcript | ENST00000327877.10 | protein_coding | 2/6 | chrX | TogoVar | ||||||
CYBC1_chr17_82437586_82455752 | 82448246 | AAGTGGAC others(317): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0014 | a0001c0001t0001g0112a0001c0001t0007g0047a0001c0002t0014g0113 | 3 | 416 | 0.0072 | -324 | c.85+ others(13): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 991704 | TCCTTGCC others(317): Show |
T | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 40 | 0.0250 | -324 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 991821 | GGACCCCC others(317): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | -324 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 992784 | ACCTTGCC others(317): Show |
A | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 40 | 0.0250 | -324 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 993170 | CGGACCCC others(317): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0022 | 1 | 40 | 0.0250 | -324 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMD_chrX_31114222_33216549 | 33190462 | TTGATCTT others(317): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(92): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0022others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(64): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(92): Show | 95 | 126 | 0.7540 | -324 | c.31+ others(17): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 171672 | GGGCCGGG others(317): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG03098.hp1 others(1): Show |
a0002 | a0002c0006 | a0002c0006t0012 | a0002c0006t0012g0028a0002c0006t0012g0249a0002c0006t0012g0274 | 4 | 339 | 0.0118 | -324 | c.453 others(15): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565632 | TCTGTCTG others(317): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 340 | 0.0029 | -324 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar |