| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PALD1_chr10_70473767_70573450 | 70554954 | C | CCCCTCCC others(242): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0201 | 1 | 308 | 0.0033 | 249 | c.226 others(268): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PCDH15_chr10_53797771_54806231 | 54332373 | T | TTATTATA others(242): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG02258.hp1 others(8): Show |
a0001a0002a0008others(3): Show | a0001c0001a0002c0002a0008c0032others(3): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0004others(8): Show | a0001c0001t0003g0010a0001c0001t0004g0031a0002c0002t0004g0041others(8): Show | 11 | 102 | 0.1078 | 249 | c.595 others(266): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54332373 | T | TTATTATA others(242): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG02258.hp1 others(8): Show |
a0001a0002a0015others(1): Show | a0001c0001a0002c0002a0002c0029others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0021a0001c0001t0002g0028others(8): Show | 11 | 94 | 0.1170 | 249 | c.595 others(266): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | ||||||
| PCNX1_chr14_70902459_71120382 | 70910040 | T | TCCTCCTC others(242): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19054.hp2 |
a0001 | a0001c0006 | a0001c0006t0029 | a0001c0006t0029g0122a0001c0006t0029g0132 | 2 | 352 | 0.0057 | 249 | c.153 others(266): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(242): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0252 | 1 | 336 | 0.0030 | 249 | c.-37 others(260): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(242): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0060 | a0004c0060t0001 | a0004c0060t0001g0305 | 1 | 336 | 0.0030 | 249 | c.-37 others(260): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(242): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0300 | 1 | 336 | 0.0030 | 249 | c.-37 others(260): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(242): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0059 | 1 | 336 | 0.0030 | 249 | c.-37 others(260): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PDE6B_chr4_620573_675782 | 651173 | A | AGCAGTGG others(242): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 308 | 0.0033 | 249 | c.712 others(266): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PERM1_chr1_970198_987093 | 976715 | C | CCAACCCC others(242): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 408 | 0.0025 | 249 | c.215 others(264): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC others(242): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 358 | 0.0028 | 249 | c.*44 others(260): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
| PHACTR3_chr20_59599540_59852711 | 59674362 | T | TCCCCTTC others(242): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0116a0001c0001t0012g0007 | 2 | 250 | 0.0080 | 249 | c.119 others(268): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401378 | C | CCCCGGCC others(242): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 216 | 0.0046 | 249 | c.173 others(266): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401458 | C | CGACCCGC others(242): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0162 | 1 | 216 | 0.0046 | 249 | c.173 others(266): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLEKHN1_chr1_961482_980865 | 976715 | C | CCAACCCC others(242): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 249 | c.*21 others(260): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 851 | chr1 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977444 | C | CCAACCCG others(242): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0065 | 1 | 422 | 0.0024 | 249 | c.*28 others(260): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1580 | chr1 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66799304 | A | ATGGTGGT others(242): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0013 | a0001c0001t0013g0027a0001c0003t0013g0059 | 2 | 178 | 0.0112 | 249 | c.185 others(268): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2123441 | T | TGGTGGTT others(242): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0275 | 1 | 286 | 0.0035 | 249 | c.335 others(268): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2123660 | C | CGGCTATA others(242): Show |
intron_variant | MODIFIER | NA18968.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0083 | 2 | 286 | 0.0070 | 249 | c.335 others(268): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2123888 | C | CTGTAGTT others(242): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 286 | 0.0035 | 249 | c.335 others(268): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123906 | C | CTGTAGTT others(242): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0256a0001c0002t0002g0035 | 2 | 286 | 0.0070 | 249 | c.335 others(268): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123960 | C | CTATAGTT others(242): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0212 | 1 | 286 | 0.0035 | 249 | c.335 others(268): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| PTPRG_chr3_61556571_62302609 | 61885680 | T | TCCTCTCC others(242): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0067 | 1 | 94 | 0.0106 | 249 | c.191 others(270): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 504412 | G | GTACCACC others(242): Show |
intron_variant | MODIFIER | HG02257.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0025a0001c0008t0057 | a0001c0001t0025g0109a0001c0008t0057g0113 | 2 | 295 | 0.0068 | 249 | c.139 others(268): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114099635 | C | CCCCCCAC others(242): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 67 | 0.0149 | 249 | c.56- others(266): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RBBP8_chr18_22928328_23031486 | 23022651 | T | TAAAATAA others(242): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0192 | 1 | 330 | 0.0030 | 249 | c.259 others(266): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| RER1_chr1_2386841_2410436 | 2401341 | T | TCTCCCTC others(242): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 354 | 0.0028 | 249 | c.365 others(264): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RFTN1_chr3_16310845_16518699 | 16404159 | T | TATATTTT others(242): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0139 | 1 | 268 | 0.0037 | 249 | c.441 others(266): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
| RIPOR3_chr20_50581108_50696542 | 50666181 | C | CCTTTTCT others(242): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 280 | 0.0036 | 249 | c.3+2 others(264): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 295385 | G | AGGACAGA others(242): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01358.hp1 HG02738.hp1 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0080a0001c0001t0002g0028a0001c0001t0003g0098others(3): Show | 6 | 133 | 0.0451 | 249 | c.352 others(268): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133668454 | T | TCCCTCAC others(242): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0003 | a0003c0013 | a0003c0013t0004 | a0003c0013t0004g0049 | 1 | 262 | 0.0038 | 249 | c.249 others(268): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SH3TC1_chr4_8194290_8246103 | 8211427 | C | CTCTCCCT others(242): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0031 | a0031c0054 | a0031c0054t0001 | a0031c0054t0001g0067 | 1 | 374 | 0.0027 | 249 | c.248 others(266): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SIGIRR_chr11_400716_419999 | 401130 | C | CCCCCGGC others(242): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 242 | 0.0041 | 249 | c.*47 others(260): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4585 | chr11 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401145 | A | ACCCCCGG others(242): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 242 | 0.0041 | 249 | c.*47 others(260): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4570 | chr11 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401378 | C | CCCCGGCC others(242): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 242 | 0.0041 | 249 | c.*45 others(260): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4337 | chr11 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401378 | C | CCCCGGCC others(242): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 242 | 0.0041 | 249 | c.*45 others(260): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4337 | chr11 | TogoVar | ||||||
| SLAIN2_chr4_48336529_48431201 | 48353427 | T | TCATGGTC others(242): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0180 | 1 | 348 | 0.0029 | 249 | c.389 others(268): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLC12A7_chr5_1045384_1117063 | 1072752 | G | GAGCCCCC others(242): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0067 | 1 | 118 | 0.0085 | 249 | c.224 others(266): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1073120 | C | CAGCCCCA others(242): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0008 | a0008c0036 | a0008c0036t0001 | a0008c0036t0001g0097 | 1 | 118 | 0.0085 | 249 | c.224 others(266): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC25A12_chr2_171778405_171899244 | 171866658 | C | CGGACGGG others(242): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 314 | 0.0032 | 249 | c.209 others(266): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | ||||||
| SLC35F3_chr1_233899676_234329511 | 234140002 | A | AATAAAAT others(242): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 | 1 | 158 | 0.0063 | 249 | c.284 others(268): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141203457 | A | AGAGAGGG others(242): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0128 | 1 | 188 | 0.0053 | 249 | c.*81 others(260): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3716 | chr8 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79952592 | A | AAGTGTGA others(242): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0185others(36): Show | 41 | 352 | 0.1165 | 249 | c.-11 others(260): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 940 | chr18 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79952592 | A | AAGTGTGA others(242): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG01255.hp1 others(37): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0175a0001c0001t0002g0244a0001c0001t0004g0166others(36): Show | 40 | 352 | 0.1136 | 249 | c.-11 others(260): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 940 | chr18 | TogoVar | ||||||
| SLC9A9_chr3_143260222_143853468 | 143448927 | A | ATAAATAT others(242): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0029 | 1 | 108 | 0.0093 | 249 | c.146 others(270): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
| SPTSSA_chr14_34427788_34467240 | 34443510 | T | TTGTGTGT others(242): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03209.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025a0001c0001t0005g0026a0001c0001t0005g0027 | 3 | 344 | 0.0087 | 249 | c.113 others(266): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| SYNE2_chr14_63848004_64231433 | 64224413 | A | ATGCATGA others(242): Show |
intron_variant | MODIFIER | HG02257.hp1 NA21309.hp2 |
a0007a0051 | a0007c0011a0051c0063 | a0007c0011t0010a0051c0063t0004 | a0007c0011t0010g0054a0051c0063t0004g0031 | 2 | 150 | 0.0133 | 249 | c.203 others(266): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 113/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| TBC1D2B_chr15_77989985_78082711 | 77992852 | C | CCCCCCAC others(242): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0154 | 1 | 280 | 0.0036 | 249 | c.*53 others(260): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2132 | chr15 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 79139121 | T | TAAATATA others(242): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 94 | 0.0106 | 249 | c.-66 others(266): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1272966 | A | ACATCAGA others(242): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0376 | 1 | 392 | 0.0026 | 249 | c.228 others(266): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar |