| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RBM26_chr13_79313868_79411255 | 79373490 | AATATGTA others(48): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(151): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0008others(12): Show | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0011others(143): Show | 154 | 328 | 0.4695 | -55 | c.328 others(72): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | ||||||
| RHEB_chr7_151461012_151524895 | 151502430 | AAACTTTA others(48): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 364 | 0.0028 | -55 | c.53- others(72): Show |
RHEB | ENSG00000106615.10 | transcript | ENST00000262187.10 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
| RHNO1_chr12_2872223_2894524 | 2885866 | CGCCCGGC others(48): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(253): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(159): Show | 256 | 426 | 0.6009 | -55 | c.168 others(70): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RNF212B_chr14_23232936_23278477 | 23276082 | CCGTGCCC others(48): Show |
C | downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 368 | 0.0027 | -55 | c.*31 others(66): Show |
RNF212B | ENSG00000215277.9 | transcript | ENST00000430154.7 | protein_coding | 2606 | chr14 | TogoVar | ||||||
| RNFT2_chr12_116733315_116858631 | 116792236 | GACGGGGT others(48): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0011 | a0001c0011t0023 | a0001c0011t0023g0007 | 1 | 268 | 0.0037 | -55 | c.882 others(74): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 295358 | GCAGAGGG others(48): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0030a0001c0001t0001g0040a0001c0001t0001g0045others(66): Show | 69 | 133 | 0.5188 | -55 | c.352 others(74): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 296196 | GGTGTGGG others(48): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG02559.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(4): Show | a0001c0001t0001g0043a0001c0001t0008g0113a0001c0001t0017g0070others(4): Show | 7 | 133 | 0.0526 | -55 | c.352 others(74): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPL3L_chr16_1938974_1959689 | 1956538 | GAGTCTCA others(48): Show |
G | upstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0380 | 1 | 450 | 0.0022 | -55 | c.-19 others(66): Show |
RPL3L | ENSG00000140986.8 | transcript | ENST00000268661.8 | protein_coding | 1850 | chr16 | TogoVar | ||||||
| RPS6KA2_chr6_166404364_166632251 | 166537549 | AATCCAGT others(48): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 244 | 0.0041 | -55 | c.216 others(72): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 2/20 | chr6 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80665451 | TCCTTTCC others(48): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0062 | a0002c0062t0018 | a0002c0062t0018g0191 | 1 | 196 | 0.0051 | -55 | c.348 others(74): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80748234 | AGGGGCTG others(48): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00735.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(30): Show | a0001c0001t0019a0001c0003t0001a0001c0004t0001others(30): Show | a0001c0001t0019g0057a0001c0003t0001g0154a0001c0004t0001g0152others(35): Show | 38 | 196 | 0.1939 | -55 | c.655 others(72): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80748426 | GTGGCGGG others(48): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0021 | a0001c0021t0065 | a0001c0021t0065g0112 | 1 | 196 | 0.0051 | -55 | c.655 others(72): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80748869 | ACCTGTTG others(48): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0007 | a0001c0007t0084 | a0001c0007t0084g0007 | 1 | 196 | 0.0051 | -55 | c.655 others(72): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RRBP1_chr20_17608679_17687242 | 17644030 | CCCCTCAG others(48): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01081.hp1 others(24): Show |
a0002a0004a0021others(4): Show | a0002c0002a0004c0003a0021c0018others(4): Show | a0002c0002t0003a0004c0003t0003a0004c0003t0010others(5): Show | a0002c0002t0003g0109a0002c0002t0003g0110a0004c0003t0003g0001others(20): Show | 27 | 350 | 0.0771 | -55 | c.191 others(72): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 3/24 | chr20 | TogoVar | ||||||
| RTL4_chrX_112078016_112462514 | 112160837 | GAGAGTTA others(48): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0030 | 1 | 134 | 0.0075 | -55 | c.-44 others(76): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SACM1L_chr3_45684396_45750409 | 45750230 | GGAGGGAC others(48): Show |
G | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0048 | 1 | 354 | 0.0028 | -55 | c.*65 others(66): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 4822 | chr3 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934540 | GGGGGAGG others(48): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0031 | a0003c0031t0002 | a0003c0031t0002g0299 | 1 | 434 | 0.0023 | -55 | c.843 others(72): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SARDH_chr9_133658560_133743352 | 133668471 | CCCCTCGC others(48): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG02135.hp2 HG03239.hp1 others(5): Show |
a0002 | a0002c0004a0002c0015a0002c0018 | a0002c0004t0002a0002c0015t0001a0002c0018t0003 | a0002c0004t0002g0011a0002c0004t0002g0012a0002c0004t0002g0015others(5): Show | 8 | 262 | 0.0305 | -55 | c.249 others(74): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SCGB1C2_chr17_132569_144067 | 141429 | TTGGTGAG others(48): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0007 | 1 | 402 | 0.0025 | -55 | c.*24 others(66): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2363 | chr17 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288664 | CCCGTGTC others(48): Show |
C | intron_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0002 | 1 | 290 | 0.0035 | -55 | c.166 others(72): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289262 | CCCCCGTG others(48): Show |
C | intron_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0002 | 1 | 290 | 0.0035 | -55 | c.166 others(73): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCYL3_chr1_169844631_169898896 | 169850990 | TTTTTTTT others(48): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0100 | a0001c0003t0100g0232 | 1 | 418 | 0.0024 | -55 | c.*26 others(66): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2668 | chr1 | TogoVar | |||||
| SDK2_chr17_73329384_73649445 | 73539923 | GGCCACGG others(48): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp2 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0025a0001c0002t0004a0001c0003t0002others(41): Show | a0001c0001t0025g0085a0001c0002t0004g0038a0001c0003t0002g0075others(43): Show | 46 | 204 | 0.2255 | -55 | c.65- others(72): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | ||||||
| SEPTIN12_chr16_4772606_4793345 | 4793214 | ATGCCACC others(48): Show |
A | upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | -55 | c.-50 others(66): Show |
SEPTIN12 | ENSG00000140623.14 | transcript | ENST00000268231.13 | protein_coding | 4870 | chr16 | TogoVar | ||||||
| SEPTIN7_chr7_35796057_35912110 | 35838308 | CCCTCCCT others(48): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0266a0001c0001t0019g0311 | 2 | 346 | 0.0058 | -55 | c.169 others(72): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SERPINB8_chr18_63965081_63994374 | 63992443 | AGTAATAC others(48): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0035 | 1 | 466 | 0.0022 | -55 | c.*51 others(66): Show |
SERPINB8 | ENSG00000166401.15 | transcript | ENST00000397985.7 | protein_coding | 3070 | chr18 | TogoVar | ||||||
| SERPINE1_chr7_101122104_101144247 | 101143515 | GAGAAAGA others(48): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp2 others(15): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0005a0001c0005t0017 | a0001c0001t0003g0019a0001c0001t0003g0063a0001c0001t0005g0019others(12): Show | 18 | 436 | 0.0413 | -55 | c.*60 others(66): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4269 | chr7 | TogoVar | ||||||
| SERTAD1_chr19_40416589_40430992 | 40430074 | CACTTTGG others(48): Show |
C | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 368 | 0.0027 | -55 | c.-42 others(66): Show |
SERTAD1 | ENSG00000197019.5 | transcript | ENST00000357949.5 | protein_coding | 4083 | chr19 | TogoVar | ||||||
| SH3TC1_chr4_8194290_8246103 | 8233955 | CATCCATT others(48): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0182 | 1 | 374 | 0.0027 | -55 | c.328 others(72): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHANK1_chr19_50654255_50724802 | 50707876 | TTTTTCTT others(48): Show |
T | intron_variant | MODIFIER | HG03471.hp1 NA18998.hp2 NA19056.hp1 |
a0001a0002 | a0001c0002a0001c0014a0002c0001 | a0001c0002t0019a0001c0014t0086a0002c0001t0002 | a0001c0002t0019g0272a0001c0014t0086g0242a0002c0001t0002g0271 | 3 | 316 | 0.0095 | -55 | c.107 others(74): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 456911 | CACTGCGT others(48): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0005t0006others(3): Show | a0001c0001t0005g0028a0001c0001t0005g0029a0001c0001t0005g0031others(5): Show | 8 | 212 | 0.0377 | -55 | c.468 others(72): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
| SHD_chr19_4274266_4295722 | 4279763 | CCCCCAGC others(48): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0323 | 1 | 462 | 0.0022 | -55 | c.-29 others(64): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 1/6 | 243 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| SHOX_chrX_625791_656584 | 643969 | TCGGGAGA others(48): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(64): Show |
a0000a0001a0004 | a0000c0002a0001c0001a0004c0004 | a0000c0002t0077a0000c0002t0085a0000c0002t0097others(57): Show | a0000c0002t0077g0031a0000c0002t0085g0045a0000c0002t0097g0194others(63): Show | 67 | 220 | 0.3046 | -55 | c.634 others(70): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SIGIRR_chr11_400716_419999 | 401878 | GACCCCCG others(48): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 242 | 0.0041 | -55 | c.*39 others(66): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3837 | chr11 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 402365 | CGGCTCCA others(48): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02622.hp1 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0186a0008c0010t0001g0053 | 2 | 242 | 0.0083 | -55 | c.*34 others(66): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3350 | chr11 | TogoVar | ||||||
| SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(48): Show |
C | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 376 | 0.0027 | -55 | c.177 others(72): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
| SLC10A6_chr4_86818468_86854384 | 86842815 | TTTCTTTC others(48): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01069.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0003a0002c0002t0001a0004c0003t0003 | a0001c0001t0003g0007a0001c0001t0003g0335a0001c0001t0003g0336others(23): Show | 29 | 350 | 0.0829 | -55 | c.377 others(72): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1080186 | CGGAGCCA others(48): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0106 | 1 | 118 | 0.0085 | -55 | c.129 others(72): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 9/23 | chr5 | TogoVar | ||||||
| SLC17A6_chr11_22333381_22384503 | 22339130 | TTATATAT others(48): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG03195.hp1 |
a0001 | a0001c0009a0001c0013 | a0001c0009t0001a0001c0013t0005 | a0001c0009t0001g0040a0001c0013t0005g0053 | 2 | 450 | 0.0044 | -55 | c.86+ others(68): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SLC17A9_chr20_62947709_62974585 | 62966030 | ATGGTGTG others(48): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(244): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0003a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(107): Show | 247 | 432 | 0.5718 | -55 | c.106 others(72): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SLC17A9_chr20_62947709_62974585 | 62966195 | GTGGTGTG others(48): Show |
G | intron_variant | MODIFIER | HG02015.hp2 NA18956.hp1 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0129 | 4 | 432 | 0.0093 | -55 | c.106 others(72): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SLC22A12_chr11_64586220_64607344 | 64592074 | TCACTCTC others(48): Show |
T | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0276 | 1 | 390 | 0.0026 | -55 | c.402 others(70): Show |
SLC22A12 | ENSG00000197891.12 | transcript | ENST00000377574.6 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SLC24A2_chr9_19502455_19794037 | 19563749 | CCCTTCCT others(48): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0050 | 1 | 188 | 0.0053 | -55 | c.134 others(74): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 7/10 | chr9 | TogoVar | ||||||
| SLC25A21_chr14_36672921_37177606 | 37098749 | ACAGACAG others(48): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02080.hp2 HG02083.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0105a0001c0001t0001g0108a0001c0001t0001g0110others(7): Show | 10 | 164 | 0.0610 | -55 | c.70+ others(72): Show |
SLC25A21 | ENSG00000183032.12 | transcript | ENST00000331299.6 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
| SLC27A4_chr9_128335527_128366470 | 128356269 | GGACTTTA others(48): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 344 | 0.0029 | -55 | c.177 others(72): Show |
SLC27A4 | ENSG00000167114.13 | transcript | ENST00000300456.5 | protein_coding | 12/12 | chr9 | TogoVar | ||||||
| SLC28A1_chr15_84879662_84950798 | 84928573 | TCTTTCTT others(48): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0015 | a0003c0015t0003 | a0003c0015t0003g0366 | 1 | 396 | 0.0025 | -55 | c.108 others(74): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | chr15 | TogoVar | ||||||
| SLC2A13_chr12_39750025_40111081 | 39807071 | TGCCACTG others(48): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0009 | a0001c0001t0005g0132a0001c0001t0005g0133a0001c0001t0008g0082others(1): Show | 4 | 214 | 0.0187 | -55 | c.144 others(76): Show |
SLC2A13 | ENSG00000151229.13 | transcript | ENST00000280871.9 | protein_coding | 7/9 | chr12 | TogoVar | ||||||
| SLC44A1_chr9_105239651_105402346 | 105381580 | AGAAGTAA others(48): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0142 | 1 | 142 | 0.0070 | -55 | c.163 others(74): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SLC6A3_chr5_1387794_1450440 | 1416728 | CAGCACGG others(48): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02896.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0006a0001c0008 | a0001c0006t0005a0001c0006t0014a0001c0008t0019 | a0001c0006t0005g0008a0001c0006t0005g0140a0001c0006t0014g0302others(1): Show | 5 | 373 | 0.0134 | -55 | c.928 others(70): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 6/14 | chr5 | TogoVar | ||||||
| SLIT1_chr10_96993038_97190959 | 97141675 | TCGTATTG others(48): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02615.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0054a0001c0001t0001g0115others(9): Show | 12 | 256 | 0.0469 | -55 | c.413 others(74): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 4/36 | chr10 | TogoVar |