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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HS3ST6_chr16_1906475_1923415 | 1907566 | CCATGCCC others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(29): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0004c0006t0001others(2): Show | a0002c0002t0001g0001a0003c0003t0001g0007a0003c0003t0001g0017others(10): Show | 32 | 433 | 0.0739 | -19 | c.*40 others(30): Show |
HS3ST6 | ENSG00000162040.7 | transcript | ENST00000454677.3 | protein_coding | 3908 | chr16 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96118670 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0066 | 1 | 116 | 0.0086 | -19 | c.707 others(38): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43690386 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0111 | 2 | 280 | 0.0071 | -19 | c.160 others(36): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B14_chr19_48808018_48841491 | 48809066 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 394 | 0.0025 | -19 | c.*40 others(30): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 3951 | chr19 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96255367 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00735.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(46): Show | 49 | 374 | 0.1310 | -19 | c.202 others(34): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
HSD17B4_chr5_119447497_119547332 | 119462248 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 380 | 0.0026 | -19 | c.112 others(36): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSD17B7_chr1_162785702_162817823 | 162788028 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 420 | 0.0024 | -19 | c.-27 others(30): Show |
HSD17B7 | ENSG00000132196.16 | transcript | ENST00000254521.8 | protein_coding | 2673 | chr1 | TogoVar | ||||||
HSD3B1_chr1_119502210_119520054 | 119510712 | GTTTTCTT others(12): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01891.hp2 others(13): Show |
a0003 | a0003c0004a0003c0005a0003c0008others(1): Show | a0003c0004t0001a0003c0005t0001a0003c0008t0001others(1): Show | a0003c0004t0001g0060a0003c0005t0001g0009a0003c0005t0001g0034others(4): Show | 16 | 410 | 0.0390 | -19 | c.146 others(34): Show |
HSD3B1 | ENSG00000203857.10 | transcript | ENST00000369413.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSPA4L_chr4_127777322_127845733 | 127843471 | GGAAATTC others(12): Show |
G | downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0032 | 1 | 340 | 0.0029 | -19 | c.*10 others(32): Show |
HSPA4L | ENSG00000164070.12 | transcript | ENST00000296464.9 | protein_coding | 2739 | chr4 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133106101 | AATTTTTT others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0079 | a0001c0002t0079g0056 | 1 | 364 | 0.0028 | -19 | c.*16 others(30): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 19/19 | 1666 | chr5 | TogoVar | |||||
HSPB1_chr7_76297673_76309292 | 76305813 | GAAGAAAA others(12): Show |
G | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -19 | c.*16 others(30): Show |
HSPB1 | ENSG00000106211.10 | transcript | ENST00000248553.7 | protein_coding | 1522 | chr7 | TogoVar | ||||||
HTATIP2_chr11_20358714_20388782 | 20361406 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(102): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0038a0001c0001t0004g0001a0001c0001t0004g0006others(58): Show | 105 | 420 | 0.2500 | -19 | c.-28 others(30): Show |
HTATIP2 | ENSG00000109854.14 | transcript | ENST00000451739.7 | protein_coding | 2307 | chr11 | TogoVar | ||||||
HTR1D_chr1_23186895_23222502 | 23199415 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0180 | 1 | 356 | 0.0028 | -19 | c.-78 others(38): Show |
HTR1D | ENSG00000179546.5 | transcript | ENST00000374619.2 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
HTR1E_chr6_86932528_87021679 | 86973969 | CTGCCTAG others(12): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 300 | 0.0033 | -19 | c.-18 others(40): Show |
HTR1E | ENSG00000168830.8 | transcript | ENST00000305344.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87945093 | CTCTCTCT others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01255.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0044a0001c0001t0002g0032a0001c0001t0002g0035others(19): Show | 22 | 250 | 0.0880 | -19 | c.-42 others(38): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87979034 | GGGAGGGG others(12): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242a0001c0001t0003g0243 | 2 | 250 | 0.0080 | -19 | c.-42 others(38): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87979055 | GGAGGGGG others(12): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 250 | 0.0040 | -19 | c.-42 others(38): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114764918 | TCTTTCTT others(12): Show |
T | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0076 | 1 | 176 | 0.0057 | -19 | c.349 others(38): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | chrX | TogoVar | ||||||
HTR4_chr5_148476547_148659527 | 148509276 | TCCAGAGC others(12): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 310 | 0.0032 | -19 | c.107 others(36): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 6/6 | chr5 | TogoVar | ||||||
HTR7_chr10_90735823_90863039 | 90844726 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01978.hp2 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006a0001c0001t0009g0394a0001c0001t0009g0395others(1): Show | 5 | 404 | 0.0124 | -19 | c.539 others(38): Show |
HTR7 | ENSG00000148680.16 | transcript | ENST00000336152.8 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3247804 | TGCTGGGC others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG03225.hp2 |
a0007a0054a0070 | a0007c0058a0054c0068a0070c0092 | a0007c0058t0033a0054c0068t0034a0070c0092t0032 | a0007c0058t0033g0009a0054c0068t0034g0090a0070c0092t0032g0030 | 3 | 294 | 0.0102 | -19 | c.*77 others(30): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 3848 | chr4 | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53594012 | GCATGAAC others(12): Show |
G | intron_variant | MODIFIER | NA18989.hp1 NA18994.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0076a0001c0001t0001g0107a0001c0001t0004g0200 | 3 | 214 | 0.0140 | -19 | c.350 others(36): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 31/83 | chrX | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53665891 | GAAGCCTG others(12): Show |
G | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 214 | 0.0047 | -19 | c.-24 others(38): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | TogoVar | ||||||
HYCC1_chr7_22929211_23019130 | 22930375 | TAAAAAGA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(39): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0049a0001c0001t0052a0001c0002t0001others(9): Show | a0001c0001t0049g0310a0001c0001t0052g0311a0001c0002t0001g0001others(32): Show | 42 | 386 | 0.1088 | -19 | c.*15 others(32): Show |
HYCC1 | ENSG00000122591.13 | transcript | ENST00000432176.7 | protein_coding | 3835 | chr7 | TogoVar | ||||||
HYDIN_chr16_70797084_71235722 | 70864330 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01346.hp1 HG02895.hp2 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0078others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0078t0001others(4): Show | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0092others(9): Show | 12 | 174 | 0.0690 | -19 | c.114 others(40): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 67/85 | chr16 | TogoVar | ||||||
HYLS1_chr11_125882668_125905646 | 125904265 | TCGCCCCG others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(268): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(68): Show | 271 | 436 | 0.6216 | -19 | c.*39 others(30): Show |
HYLS1 | ENSG00000198331.11 | transcript | ENST00000425380.7 | protein_coding | 3620 | chr11 | TogoVar | ||||||
IBA57_chr1_228160804_228187257 | 228182600 | GGGGTGTG others(12): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0004 | 1 | 416 | 0.0024 | -19 | c.*70 others(30): Show |
IBA57 | ENSG00000181873.13 | transcript | ENST00000366711.4 | protein_coding | 344 | chr1 | TogoVar | ||||||
IBTK_chr6_82164987_82252744 | 82173015 | TTTTTGAG others(12): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 296 | 0.0034 | -19 | c.379 others(36): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
IBTK_chr6_82164987_82252744 | 82225659 | AATTAACT others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0001t0001g0275others(2): Show | 5 | 296 | 0.0169 | -19 | c.655 others(32): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
ICA1L_chr2_202768176_202876766 | 202839599 | TGTGTGTG others(12): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0057 | 1 | 330 | 0.0030 | -19 | c.-7- others(36): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8156929 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0022others(23): Show | 26 | 274 | 0.0949 | -19 | c.804 others(34): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
IDE_chr10_92446684_92579093 | 92564671 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283a0001c0001t0002g0301a0001c0001t0002g0302 | 3 | 314 | 0.0096 | -19 | c.98+ others(34): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
IDH2_chr15_90078045_90107468 | 90083119 | ATTTTTTT others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02723.hp2 HG02735.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0011 | a0001c0001t0011g0003a0001c0001t0011g0038a0001c0001t0011g0086others(3): Show | 10 | 440 | 0.0227 | -19 | c.*11 others(30): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 11/11 | 1128 | chr15 | TogoVar | |||||
IDUA_chr4_982044_1009564 | 1005090 | CAGCAGTC others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 NA19240.hp2 |
a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0030 | 2 | 426 | 0.0047 | -19 | c.*69 others(28): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 527 | chr4 | TogoVar | ||||||
IER3_chr6_30738199_30749547 | 30746575 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 449 | 0.0022 | -19 | c.-20 others(30): Show |
IER3 | ENSG00000137331.12 | transcript | ENST00000259874.6 | protein_coding | 2029 | chr6 | TogoVar | ||||||
IFI16_chr1_159004907_159060151 | 159021939 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02896.hp1 NA18991.hp2 NA19068.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0181a0001c0001t0001g0186a0001c0003t0001g0092 | 3 | 320 | 0.0094 | -19 | c.116 others(38): Show |
IFI16 | ENSG00000163565.20 | transcript | ENST00000295809.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IFI44L_chr1_78615448_78651145 | 78643633 | TTGTTTTT others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0073 | a0002c0002t0073g0070 | 1 | 430 | 0.0023 | -19 | c.*18 others(30): Show |
IFI44L | ENSG00000137959.17 | transcript | ENST00000370751.10 | protein_coding | 9/9 | 1826 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
IFI44L_chr1_78615448_78651145 | 78643635 | GTTTTTTT others(12): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(86): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0011others(1): Show | a0002c0002t0006a0002c0002t0015a0002c0002t0018others(39): Show | a0002c0002t0006g0001a0002c0002t0006g0007a0002c0002t0006g0020others(58): Show | 89 | 430 | 0.2070 | -19 | c.*18 others(30): Show |
IFI44L | ENSG00000137959.17 | transcript | ENST00000370751.10 | protein_coding | 9/9 | 1837 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
IFNA1_chr9_21435439_21446316 | 21443524 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01168.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 450 | 0.0200 | -19 | c.*24 others(30): Show |
IFNA1 | ENSG00000197919.6 | transcript | ENST00000276927.3 | protein_coding | 2209 | chr9 | TogoVar | ||||||
IFNGR2_chr21_33398413_33442516 | 33401964 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0005a0001c0001t0003g0009a0001c0001t0003g0033others(3): Show | 6 | 386 | 0.0155 | -19 | c.-15 others(30): Show |
IFNGR2 | ENSG00000159128.16 | transcript | ENST00000290219.11 | protein_coding | 1448 | chr21 | TogoVar | ||||||
IFNLR1_chr1_24149168_24192289 | 24162713 | TTCTTTCT others(12): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01515.hp1 HG01517.hp1 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0017others(2): Show | a0001c0001t0002g0009a0001c0001t0002g0011a0001c0001t0002g0131others(12): Show | 17 | 396 | 0.0429 | -19 | c.368 others(36): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
IFT122_chr3_129435224_129525507 | 129516302 | ACACACAG others(12): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 356 | 0.0028 | -19 | c.326 others(36): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IFT122_chr3_129435224_129525507 | 129516544 | ACACACAC others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp2 others(30): Show |
a0001a0002a0009 | a0001c0004a0001c0007a0002c0002others(2): Show | a0001c0004t0001a0001c0007t0001a0002c0002t0001others(2): Show | a0001c0004t0001g0326a0001c0004t0001g0327a0001c0004t0001g0330others(26): Show | 33 | 356 | 0.0927 | -19 | c.326 others(36): Show |
IFT122 | ENSG00000163913.14 | transcript | ENST00000348417.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IFT172_chr2_27439377_27494743 | 27439995 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 224 | 0.0045 | -19 | c.*44 others(30): Show |
IFT172 | ENSG00000138002.16 | transcript | ENST00000260570.8 | protein_coding | 4381 | chr2 | TogoVar | ||||||
IFT25_chr1_53916561_53950699 | 53920059 | AAAGTGCT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0001g0137others(3): Show | 6 | 282 | 0.0213 | -19 | c.*15 others(30): Show |
IFT25 | ENSG00000081870.12 | transcript | ENST00000194214.10 | protein_coding | 1501 | chr1 | TogoVar | ||||||
IFT43_chr14_75980763_76088742 | 75999262 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 396 | 0.0025 | -19 | c.147 others(38): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
IFT43_chr14_75980763_76088742 | 75999263 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 396 | 0.0025 | -19 | c.147 others(38): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
IFT81_chr12_110119357_110223793 | 110171707 | TCTTGCCT others(12): Show |
T | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 218 | 0.0046 | -19 | c.118 others(38): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20564249 | GCTCCCCG others(12): Show |
G | upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 308 | 0.0033 | -19 | c.-30 others(30): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 2907 | chr13 | TogoVar | ||||||
IFT88_chr13_20562157_20696444 | 20621526 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(215): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0004a0004c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0013others(214): Show | 218 | 308 | 0.7078 | -19 | c.120 others(38): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 14/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |