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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPSE2_chr10_98452077_99240852 | 99184522 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0036 others(37): Show |
40 | 52 | 0.7692 | -21 | c.449 others(40): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213598 | GAGCGGGG others(14): Show |
G | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -21 | c.*23 others(32): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1361 | chr20 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96118672 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03041.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0001g0065 a0001c0001t0007g0063 a0001c0001t0008g0062 others(3): Show |
6 | 104 | 0.0577 | -21 | c.707 others(40): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96118676 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0090 | 1 | 113 | 0.0088 | -21 | c.707 others(40): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96138380 | TATATATG others(14): Show |
T | intron_variant | MODIFIER | HG01106.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0105 |
2 | 116 | 0.0172 | -21 | c.707 others(40): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96138387 | GTTTACAG others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG01071.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0077 others(46): Show |
49 | 116 | 0.4224 | -21 | c.707 others(40): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96254429 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 116 | 0.0086 | -21 | c.707 others(42): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96254437 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 114 | 0.0088 | -21 | c.707 others(42): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96317352 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01261.hp1 HG01496.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0088 others(8): Show |
11 | 115 | 0.0957 | -21 | c.707 others(42): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96668686 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0110 a0001c0001t0007g0012 |
2 | 7 | 0.2857 | -21 | c.708 others(42): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSD11B1L_chr19_5676027_5693522 | 5687200 | CCTGGCCC others(14): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0029 |
8 | 380 | 0.0211 | -21 | c.409 others(34): Show |
HSD11B1L | ENSG00000167733.14 | transcript | ENST00000339423.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87378944 | ATATTTAT others(14): Show |
A | intron_variant | MODIFIER | NA18977.hp2 NA18990.hp1 NA18993.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 a0001c0001t0003g0093 a0001c0001t0003g0098 others(4): Show |
7 | 383 | 0.0183 | -21 | c.318 others(38): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
HSD17B12_chr11_43675738_43861615 | 43690383 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0251 | 1 | 278 | 0.0036 | -21 | c.160 others(38): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
HSD17B12_chr11_43675738_43861615 | 43690384 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0253 |
3 | 278 | 0.0108 | -21 | c.160 others(38): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B13_chr4_87298794_87327882 | 87308485 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG03225.hp1 |
a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0177 a0004c0005t0007g0178 a0004c0005t0007g0229 |
3 | 38 | 0.0789 | -21 | c.812 others(38): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96255367 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0146 a0001c0001t0002g0311 a0001c0001t0002g0360 others(1): Show |
4 | 27 | 0.1481 | -21 | c.202 others(36): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSD17B4_chr5_119447497_119547332 | 119462248 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 48 | 0.0208 | -21 | c.112 others(38): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HSD17B6_chr12_56758324_56792790 | 56767781 | ATGTATAT others(14): Show |
A | intron_variant | MODIFIER | HG02074.hp2 NA18940.hp2 NA18945.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0155 a0001c0001t0001g0156 others(9): Show |
16 | 358 | 0.0447 | -21 | c.-20 others(38): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HSD3B1_chr1_119502210_119520054 | 119510717 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02486.hp2 HG02818.hp1 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0013 | 4 | 77 | 0.0519 | -21 | c.146 others(36): Show |
HSD3B1 | ENSG00000203857.10 | transcript | ENST00000369413.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HSD3B2_chr1_119410150_119428034 | 119418615 | CTTTTATT others(14): Show |
C | intron_variant | MODIFIER | NA18954.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 2 | 361 | 0.0055 | -21 | c.143 others(36): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HSD3B2_chr1_119410150_119428034 | 119418617 | TTTATTAT others(14): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02486.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0025 a0002c0003t0003g0053 |
3 | 429 | 0.0070 | -21 | c.143 others(36): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144313644 | CCCGCCCC others(14): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0058 | 1 | 323 | 0.0031 | -21 | c.124 others(36): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSP90AA1_chr14_102075742_102092044 | 102089954 | GTGAGCTT others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 396 | 0.0025 | -21 | c.-29 others(32): Show |
HSP90AA1 | ENSG00000080824.19 | transcript | ENST00000216281.13 | protein_coding | 2911 | chr14 | TogoVar | |||||||
HSPA4_chr5_133047013_133111449 | 133106101 | AATTTTTT others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 267 | 0.0037 | -21 | c.*16 others(32): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 19/19 | 1666 | chr5 | TogoVar | ||||||
HSPB1_chr7_76297673_76309292 | 76299405 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG04228.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 418 | 0.0048 | -21 | c.-33 others(32): Show |
HSPB1 | ENSG00000106211.10 | transcript | ENST00000248553.7 | protein_coding | 3267 | chr7 | TogoVar | |||||||
HSPB8_chr12_119173931_119199746 | 119186694 | TTGGAAGA others(14): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00733.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0003g0010 others(30): Show |
59 | 416 | 0.1418 | -21 | c.368 others(36): Show |
HSPB8 | ENSG00000152137.8 | transcript | ENST00000281938.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HSPB8_chr12_119173931_119199746 | 119199618 | GAAATGGA others(14): Show |
G | downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 415 | 0.0024 | -21 | c.*57 others(32): Show |
HSPB8 | ENSG00000152137.8 | transcript | ENST00000281938.7 | protein_coding | 4873 | chr12 | TogoVar | |||||||
HSPBP1_chr19_55257223_55285110 | 55282337 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp2 HG03669.hp1 HG03704.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0017 a0002c0003t0001g0042 a0002c0003t0001g0043 others(1): Show |
5 | 44 | 0.1136 | -21 | c.-24 others(32): Show |
HSPBP1 | ENSG00000133265.11 | transcript | ENST00000433386.7 | protein_coding | 2228 | chr19 | TogoVar | |||||||
HSPG2_chr1_21817244_21942310 | 21868660 | ACAGGGGT others(14): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0057 | a0057c0096 | a0057c0096t0002 | a0057c0096t0002g0168 | 1 | 308 | 0.0032 | -21 | c.422 others(40): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 33/96 | chr1 | TogoVar | |||||||
HTR1D_chr1_23186895_23222502 | 23199415 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 46 | 0.0217 | -21 | c.-78 others(40): Show |
HTR1D | ENSG00000179546.5 | transcript | ENST00000374619.2 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
HTR7_chr10_90735823_90863039 | 90844726 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01168.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 others(7): Show |
10 | 171 | 0.0585 | -21 | c.539 others(40): Show |
HTR7 | ENSG00000148680.16 | transcript | ENST00000336152.8 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
HTRA1_chr10_122456553_122519907 | 122472369 | CTATTATT others(14): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0335 a0001c0002t0001g0336 a0002c0003t0001g0005 others(36): Show |
40 | 115 | 0.3478 | -21 | c.472 others(40): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3099609 | GTTGTATG others(14): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(101): Show |
a0001a0002a0003others(20): Show | a0001c0030a0002c0001a0002c0040others(33): Show | a0001c0030t0002a0002c0001t0002a0002c0001t0013others(38): Show | a0001c0030t0002g0132 a0001c0030t0002g0280 a0002c0001t0002g0037 others(101): Show |
104 | 292 | 0.3562 | -21 | c.468 others(36): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 3/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HYCC1_chr7_22929211_23019130 | 22930320 | TACCCTAA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp2 HG03209.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0021 | a0001c0002t0012g0189 a0001c0002t0012g0190 a0001c0002t0021g0230 others(1): Show |
4 | 384 | 0.0104 | -21 | c.*15 others(34): Show |
HYCC1 | ENSG00000122591.13 | transcript | ENST00000432176.7 | protein_coding | 3890 | chr7 | TogoVar | |||||||
HYDIN_chr16_70797084_71235722 | 70864330 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02300.hp1 HG02300.hp2 HG02602.hp1 others(4): Show |
a0001a0002a0029others(2): Show | a0001c0001a0002c0003a0029c0025others(2): Show | a0001c0001t0001a0002c0003t0002a0029c0025t0001others(2): Show | a0001c0001t0001g0107 a0001c0001t0001g0111 a0002c0003t0002g0010 others(4): Show |
7 | 14 | 0.5000 | -21 | c.114 others(42): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 67/85 | chr16 | TogoVar | |||||||
HYDIN_chr16_70797084_71235722 | 70904478 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02809.hp2 others(2): Show |
a0001a0011a0033 | a0001c0058a0001c0073a0011c0023others(1): Show | a0001c0058t0009a0001c0073t0009a0011c0023t0009others(1): Show | a0001c0058t0009g0027 a0001c0073t0009g0123 a0011c0023t0009g0043 others(2): Show |
5 | 36 | 0.1389 | -21 | c.851 others(38): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 50/85 | chr16 | TogoVar | |||||||
IBA57_chr1_228160804_228187257 | 228181740 | TCTTGTCA others(14): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0110 | 1 | 414 | 0.0024 | -21 | c.*62 others(32): Show |
IBA57 | ENSG00000181873.13 | transcript | ENST00000366711.4 | protein_coding | 3/3 | 6229 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ICA1L_chr2_202768176_202876766 | 202773206 | AAAGAAAT others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0141 | 1 | 328 | 0.0030 | -21 | c.*63 others(32): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 13/13 | 6306 | chr2 | TogoVar | ||||||
ICOSLG_chr21_44217991_44245943 | 44219798 | AGAGGAGG others(14): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0010 | 1 | 40 | 0.0250 | -21 | c.*92 others(32): Show |
ICOSLG | ENSG00000160223.18 | transcript | ENST00000407780.8 | protein_coding | 3192 | chr21 | TogoVar | |||||||
IDO2_chr8_39929651_40021392 | 39995230 | TCTCCTTC others(14): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA18906.hp1 |
a0008 | a0008c0010 | a0008c0010t0005 | a0008c0010t0005g0088 a0008c0010t0005g0089 a0008c0010t0005g0165 |
3 | 358 | 0.0084 | -21 | c.667 others(38): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18912852 | ATTGGCTA others(14): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 374 | 0.0027 | -21 | c.110 others(38): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18956950 | GGGACCCG others(14): Show |
G | upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 374 | 0.0027 | -21 | c.-63 others(30): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 275 | chr1 | TogoVar | |||||||
IFI16_chr1_159004907_159060151 | 159021939 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(113): Show |
a0001a0002a0003others(7): Show | a0001c0003a0002c0002a0002c0023others(12): Show | a0001c0003t0001a0001c0003t0002a0002c0002t0001others(16): Show | a0001c0003t0001g0018 a0001c0003t0002g0018 a0002c0002t0001g0011 others(82): Show |
116 | 117 | 0.9915 | -21 | c.116 others(40): Show |
IFI16 | ENSG00000163565.20 | transcript | ENST00000295809.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFI44L_chr1_78615448_78651145 | 78638451 | CATGAATT others(14): Show |
C | intron_variant | MODIFIER | NA19075.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0073 | 1 | 428 | 0.0023 | -21 | c.104 others(40): Show |
IFI44L | ENSG00000137959.17 | transcript | ENST00000370751.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFNA13_chr9_21362372_21373057 | 21364887 | CCAGACAC others(14): Show |
C | downstream_gene_variant | MODIFIER | NA18947.hp1 NA18947.hp2 NA19010.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 464 | 0.0129 | -21 | c.*25 others(32): Show |
IFNA13 | ENSG00000233816.4 | transcript | ENST00000610660.2 | protein_coding | 2484 | chr9 | TogoVar | |||||||
IFNGR2_chr21_33398413_33442516 | 33401964 | CTTTTTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0260 | 1 | 2 | 0.5000 | -21 | c.-15 others(32): Show |
IFNGR2 | ENSG00000159128.16 | transcript | ENST00000290219.11 | protein_coding | 1448 | chr21 | TogoVar | |||||||
IFNK_chr9_27519290_27531498 | 27520992 | ATGCCAAC others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0014 | 1 | 446 | 0.0022 | -21 | c.-33 others(32): Show |
IFNK | ENSG00000147896.4 | transcript | ENST00000276943.3 | protein_coding | 3297 | chr9 | TogoVar | |||||||
IFT122_chr3_129435224_129525507 | 129516538 | CCCTGCAC others(14): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0310 | 1 | 354 | 0.0028 | -21 | c.326 others(38): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IFT172_chr2_27439377_27494743 | 27439995 | CTTTTTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show |
a0001a0009a0013others(1): Show | a0001c0002a0009c0009a0013c0017others(1): Show | a0001c0002t0001a0009c0009t0001a0013c0017t0001others(1): Show | a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0009 others(67): Show |
82 | 86 | 0.9535 | -21 | c.*44 others(32): Show |
IFT172 | ENSG00000138002.16 | transcript | ENST00000260570.8 | protein_coding | 4381 | chr2 | TogoVar | |||||||
IFT43_chr14_75980763_76088742 | 75999250 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 394 | 0.0025 | -21 | c.147 others(40): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | chr14 | TogoVar |