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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFNGR1_chr6_137192485_137224385 | 137199528 | A | AATATATT others(98): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 2 | 390 | 0.0051 | 105 | c.862 others(120): Show |
IFNGR1 | ENSG00000027697.16 | transcript | ENST00000367739.9 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
IGSF21_chr1_18102798_18383483 | 18254357 | A | AAACCCTA others(98): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0127 a0001c0001t0011g0208 |
2 | 248 | 0.0081 | 105 | c.183 others(124): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL19_chr1_206765773_206847981 | 206781970 | T | TAGTTATA others(98): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00738.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0027 others(19): Show |
25 | 366 | 0.0683 | 105 | c.-14 others(126): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34686896 | C | CAGTGAGC others(98): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(107): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show |
110 | 316 | 0.3481 | 105 | c.158 others(122): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
INF2_chr14_104684618_104727535 | 104720443 | T | TCTCGTGT others(98): Show |
3_prime_UTR_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0059 | 1 | 380 | 0.0026 | 105 | c.*16 others(116): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 23/23 | 5125 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
INF2_chr14_104684618_104727535 | 104720601 | C | CACGTCTG others(98): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG03669.hp2 |
a0002 | a0002c0004 | a0002c0004t0039 | a0002c0004t0039g0030 | 2 | 380 | 0.0053 | 105 | c.*18 others(116): Show |
INF2 | ENSG00000203485.14 | transcript | ENST00000392634.9 | protein_coding | 23/23 | 5382 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
INO80_chr15_40973880_41121280 | 41031612 | A | AGGAAGGG others(98): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 282 | 0.0036 | 105 | c.290 others(124): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INTS1_chr7_1465277_1509389 | 1484943 | A | ACCCCGTC others(98): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03540.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 |
3 | 316 | 0.0095 | 105 | c.326 others(121): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 24/47 | chr7 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25077360 | T | TATGATAT others(98): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 344 | 0.0029 | 105 | c.25- others(120): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | chr12 | TogoVar | |||||||
IRF2_chr4_184382729_184479550 | 184430268 | C | CTGTATGC others(98): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 a0001c0001t0003g0083 |
2 | 376 | 0.0053 | 105 | c.-6- others(120): Show |
IRF2 | ENSG00000168310.12 | transcript | ENST00000393593.8 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400893 | T | TAATATAT others(98): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0010 | a0002c0010t0113 | a0002c0010t0113g0145 | 1 | 242 | 0.0041 | 105 | c.164 others(122): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400893 | T | TATTATAT others(98): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01515.hp1 HG01517.hp1 |
a0002a0006 | a0002c0007a0006c0033 | a0002c0007t0001a0006c0033t0023a0006c0033t0024 | a0002c0007t0001g0143 a0006c0033t0023g0010 a0006c0033t0024g0011 |
3 | 242 | 0.0124 | 105 | c.164 others(122): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400924 | A | ATATTATA others(98): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0080 | a0004c0080t0015 | a0004c0080t0015g0115 | 1 | 242 | 0.0041 | 105 | c.164 others(122): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7719923 | A | AAAGTGTG others(98): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG03704.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0184 a0001c0001t0001g0237 a0001c0002t0001g0351 others(1): Show |
4 | 380 | 0.0105 | 105 | c.631 others(120): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737867 | A | CTATATTA others(98): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 380 | 0.0026 | 105 | c.195 others(122): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132159769 | T | TGGGGGGC others(98): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 158 | 0.0063 | 105 | c.222 others(124): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159769 | T | TGGGGGGC others(98): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0025 | a0002c0025t0008 | a0002c0025t0008g0033 | 1 | 158 | 0.0063 | 105 | c.222 others(124): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159769 | T | TGGGGGGC others(98): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01175.hp2 HG01243.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0013others(7): Show | a0001c0001t0003a0001c0006t0017a0001c0013t0024others(8): Show | a0001c0001t0003g0102 a0001c0006t0017g0154 a0001c0013t0024g0078 others(10): Show |
13 | 158 | 0.0823 | 105 | c.222 others(124): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159775 | G | GCCTCTTC others(98): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0011 | a0004c0011t0040 | a0004c0011t0040g0060 | 1 | 158 | 0.0063 | 105 | c.222 others(124): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132159801 | C | CCTCTTCC others(98): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02074.hp1 HG02132.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0015a0003c0003others(2): Show | a0001c0001t0002a0001c0015t0002a0003c0003t0005others(4): Show | a0001c0001t0002g0027 a0001c0001t0002g0146 a0001c0015t0002g0018 others(5): Show |
8 | 158 | 0.0506 | 105 | c.222 others(124): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160811 | G | GGGGGGGG others(98): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01175.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0019a0002c0005others(7): Show | a0001c0001t0001a0001c0019t0001a0002c0005t0010others(7): Show | a0001c0001t0001g0116 a0001c0019t0001g0152 a0002c0005t0010g0061 others(10): Show |
13 | 158 | 0.0823 | 105 | c.222 others(124): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 85008375 | G | GATATAGA others(98): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0274 | 1 | 274 | 0.0037 | 105 | c.17- others(122): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KDSR_chr18_63322726_63372206 | 63361017 | A | ATATATAT others(98): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0289 | 1 | 406 | 0.0025 | 105 | c.199 others(122): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229053 | A | ACTCACCC others(98): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02723.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094 a0001c0001t0002g0067 a0001c0001t0002g0068 |
3 | 398 | 0.0075 | 105 | c.64+ others(122): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16395291 | A | AGGGAGGG others(98): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18946.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0002 | a0001c0001t0011g0011 a0001c0002t0002g0085 |
2 | 250 | 0.0080 | 105 | c.178 others(124): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 17/25 | chr20 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16395356 | A | AGGGAGGG others(98): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00642.hp2 others(63): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0023others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0144 others(63): Show |
66 | 250 | 0.2640 | 105 | c.178 others(124): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 17/25 | chr20 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16395356 | A | AGGGAGGG others(98): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0242 | 1 | 250 | 0.0040 | 105 | c.178 others(124): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 17/25 | chr20 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16395356 | A | AGGGAGGG others(98): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01884.hp1 HG02109.hp1 others(10): Show |
a0001a0004 | a0001c0008a0004c0007a0004c0012 | a0001c0008t0001a0004c0007t0002a0004c0007t0003others(1): Show | a0001c0008t0001g0008 a0001c0008t0001g0024 a0001c0008t0001g0133 others(10): Show |
13 | 250 | 0.0520 | 105 | c.178 others(124): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 17/25 | chr20 | TogoVar | |||||||
KIF27_chr9_83829099_83926432 | 83848180 | T | TATATCTG others(98): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 a0001c0002t0001g0260 |
2 | 346 | 0.0058 | 105 | c.355 others(124): Show |
KIF27 | ENSG00000165115.15 | transcript | ENST00000297814.7 | protein_coding | 16/17 | chr9 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(98): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 406 | 0.0025 | 105 | c.*34 others(116): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(98): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 406 | 0.0025 | 105 | c.*34 others(116): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(98): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 406 | 0.0025 | 105 | c.*34 others(116): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(98): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0007 | 1 | 406 | 0.0025 | 105 | c.*34 others(116): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KRTAP19-1_chr21_30474706_30485367 | 30484294 | T | TATGTAAT others(98): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01975.hp1 HG02293.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 424 | 0.0118 | 105 | c.-39 others(116): Show |
KRTAP19-1 | ENSG00000184351.8 | transcript | ENST00000390689.3 | protein_coding | 3928 | chr21 | TogoVar | |||||||
KRTAP19-2_chr21_30482043_30492436 | 30484294 | T | TATGTAAT others(98): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01975.hp2 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 4 | 420 | 0.0095 | 105 | c.*28 others(116): Show |
KRTAP19-2 | ENSG00000186965.5 | transcript | ENST00000334055.5 | protein_coding | 2748 | chr21 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051410 | A | ATAATATA others(98): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00735.hp1 others(71): Show |
a0002a0010 | a0002c0002a0010c0012 | a0002c0002t0002a0002c0002t0012a0010c0012t0002 | a0002c0002t0002g0000 a0002c0002t0012g0000 a0010c0012t0002g0000 |
74 | 407 | 0.1818 | 105 | c.-41 others(116): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 4095 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051410 | A | ATAATATA others(98): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00735.hp1 others(74): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0009g0000 others(4): Show |
77 | 411 | 0.1874 | 105 | c.*34 others(116): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3087 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(98): Show |
stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0005a0001c0002t0013others(2): Show | a0001c0002t0001g0000 a0001c0002t0005g0000 a0001c0002t0013g0000 others(2): Show |
147 | 411 | 0.3577 | 105 | c.324 others(112): Show |
p.Cys others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP2-2_chr17_41049498_41060230 | 41054892 | G | GGGGACTG others(98): Show |
stop_gained others(1): Show |
HIGH | HG02523.hp2 NA18969.hp2 NA19006.hp2 others(2): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0000 | 5 | 411 | 0.0122 | 105 | c.319 others(112): Show |
p.Ser others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 338/733 | 319/372 | 107/123 | chr17 | TogoVar | |||
KRTAP2-3_chr17_41054240_41065114 | 41054887 | C | CGCAGGGG others(98): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(150): Show |
a0001a0006a0007others(1): Show | a0001c0001a0006c0005a0007c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0006c0005t0001others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0006c0005t0001g0000 others(2): Show |
153 | 441 | 0.3469 | 105 | c.*47 others(116): Show |
KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 4352 | chr17 | TogoVar | |||||||
KRTAP2-3_chr17_41054240_41065114 | 41054892 | G | GGGGACTG others(98): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 NA18969.hp1 NA19006.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0000 a0007c0007t0001g0000 |
7 | 441 | 0.0159 | 105 | c.*47 others(116): Show |
KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 4347 | chr17 | TogoVar | |||||||
KRTAP2-4_chr17_41060116_41070879 | 41065457 | T | TCTCAGCA others(98): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01168.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 9 | 433 | 0.0208 | 105 | c.284 others(111): Show |
KRTAP2-4 | ENSG00000213417.3 | transcript | ENST00000394015.3 | protein_coding | 1/1 | 1 | chr17 | TogoVar | ||||||
KRTAP2-4_chr17_41060116_41070879 | 41065513 | G | GGGCCGGC others(98): Show |
stop_gained others(1): Show |
HIGH | HG02683.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0000 | 1 | 433 | 0.0023 | 105 | c.332 others(112): Show |
p.Pro others(118): Show |
KRTAP2-4 | ENSG00000213417.3 | transcript | ENST00000394015.3 | protein_coding | 1/1 | 366/764 | 332/387 | 111/128 | chr17 | TogoVar | |||
KRTAP4-16_chr17_41096502_41107209 | 41097673 | A | AGGGGCAG others(98): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02257.hp2 others(16): Show |
a0001a0007a0013 | a0001c0005a0007c0012a0013c0021 | a0001c0005t0001a0007c0012t0001a0013c0021t0001 | a0001c0005t0001g0000 a0007c0012t0001g0000 a0013c0021t0001g0000 |
19 | 423 | 0.0449 | 105 | c.*38 others(116): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 3828 | chr17 | TogoVar | |||||||
KRTAP4-16_chr17_41096502_41107209 | 41097673 | A | AGGGGCGG others(98): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02976.hp2 HG03041.hp2 others(2): Show |
a0001a0010a0017 | a0001c0009a0001c0026a0010c0013others(1): Show | a0001c0009t0001a0001c0026t0001a0010c0013t0001others(1): Show | a0001c0009t0001g0000 a0001c0026t0001g0000 a0010c0013t0001g0000 others(1): Show |
5 | 423 | 0.0118 | 105 | c.*37 others(116): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 3828 | chr17 | TogoVar | |||||||
KRTAP4-3_chr17_41162231_41173221 | 41167977 | T | TGCAGCAG others(98): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(148): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0000 a0002c0011t0001g0000 |
151 | 410 | 0.3683 | 105 | c.195 others(112): Show |
p.Cys others(116): Show |
KRTAP4-3 | ENSG00000196156.5 | transcript | ENST00000391356.4 | protein_coding | 1/1 | 244/991 | 195/588 | 65/195 | chr17 | TogoVar | |||
KRTAP4-3_chr17_41162231_41173221 | 41167977 | T | TGCAGCAG others(98): Show |
conservative_inframe_insertion | MODERATE | HG02145.hp2 HG02486.hp2 HG02647.hp2 others(7): Show |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0000 | 10 | 410 | 0.0244 | 105 | c.91_ others(111): Show |
p.Cys others(116): Show |
KRTAP4-3 | ENSG00000196156.5 | transcript | ENST00000391356.4 | protein_coding | 1/1 | 244/991 | 195/588 | 65/195 | chr17 | TogoVar | |||
KRTAP4-3_chr17_41162231_41173221 | 41168028 | A | AACTGGAA others(98): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp2 HG02055.hp2 HG02976.hp2 others(4): Show |
a0006 | a0006c0007 | a0006c0007t0002a0006c0007t0004 | a0006c0007t0002g0000 a0006c0007t0004g0000 |
7 | 410 | 0.0171 | 105 | c.144 others(112): Show |
p.Ser others(116): Show |
KRTAP4-3 | ENSG00000196156.5 | transcript | ENST00000391356.4 | protein_coding | 1/1 | 193/991 | 144/588 | 48/195 | chr17 | TogoVar | |||
KRTAP4-8_chr17_41091981_41103142 | 41097673 | A | AGGGGCAG others(98): Show |
conservative_inframe_insertion | MODERATE | HG01109.hp2 HG02109.hp2 HG02257.hp1 others(17): Show |
a0004a0005 | a0004c0004a0005c0014 | a0004c0004t0004a0005c0014t0004 | a0004c0004t0004g0000 a0005c0014t0004g0000 |
20 | 416 | 0.0481 | 105 | c.411 others(112): Show |
p.Pro others(118): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 469/1162 | 411/558 | 137/185 | chr17 | TogoVar | |||
KRTAP4-8_chr17_41091981_41103142 | 41097673 | A | AGGGGCGG others(98): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0007a0004c0006t0009 | a0004c0006t0007g0000 a0004c0006t0009g0000 |
7 | 416 | 0.0168 | 105 | c.307 others(112): Show |
p.Pro others(118): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 469/1162 | 411/558 | 137/185 | chr17 | TogoVar |