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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPDYE10_chr7_73099008_73160431 | 73156167 | G | GTCTGTCT others(13): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0153 | 1 | 216 | 0.0046 | 20 | c.-14 others(31): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 737 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76539081 | T | TTTTTGTT others(13): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112 | 1 | 255 | 0.0039 | 20 | c.380 others(35): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SPDYE17_chr7_77017306_77037361 | 77025745 | G | GATAAATA others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0058 | 1 | 295 | 0.0034 | 20 | c.495 others(35): Show |
SPDYE17 | ENSG00000186645.11 | transcript | ENST00000671986.3 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
SPDYE17_chr7_77017306_77037361 | 77030080 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 295 | 0.0034 | 20 | c.130 others(35): Show |
SPDYE17 | ENSG00000186645.11 | transcript | ENST00000671986.3 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77064586 | T | TACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0091 others(5): Show |
9 | 416 | 0.0216 | 20 | c.-25 others(31): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 2029 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43994418 | G | GAAAGAAA others(13): Show |
upstream_gene_variant | MODIFIER | NA18988.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 2 | 394 | 0.0051 | 20 | c.-39 others(31): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3478 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43995839 | C | CGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02572.hp2 NA19082.hp2 |
a0001a0005a0019 | a0001c0001a0005c0005a0019c0022 | a0001c0001t0005a0005c0005t0008a0019c0022t0003 | a0001c0001t0005g0069 a0005c0005t0008g0080 a0019c0022t0003g0028 |
3 | 394 | 0.0076 | 20 | c.-25 others(31): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 2057 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 44008999 | G | GGTTGCCA others(13): Show |
3_prime_UTR_variant | MODIFIER | NA19062.hp2 | a0015 | a0015c0014 | a0015c0014t0019 | a0015c0014t0019g0161 | 1 | 394 | 0.0025 | 20 | c.*38 others(29): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 9/9 | 1243 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SPDYE2B_chr7_102645319_102667625 | 102646920 | A | AGAGAAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01975.hp2 NA19091.hp2 |
a0001a0013 | a0001c0005a0013c0022 | a0001c0005t0003a0013c0022t0021 | a0001c0005t0003g0007 a0001c0005t0003g0053 a0013c0022t0021g0068 |
3 | 128 | 0.0234 | 20 | c.-38 others(31): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3398 | chr7 | TogoVar | |||||||
SPDYE2B_chr7_102645319_102667625 | 102646923 | G | GGAAAGAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 NA18969.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0004 | a0001c0001t0004g0099 a0003c0003t0004g0095 |
2 | 128 | 0.0156 | 20 | c.-38 others(31): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3395 | chr7 | TogoVar | |||||||
SPDYE2B_chr7_102645319_102667625 | 102648345 | C | CGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0071 | 1 | 128 | 0.0078 | 20 | c.-24 others(31): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 1973 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102547829 | A | AGAGAAAG others(13): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0026 | 1 | 164 | 0.0061 | 20 | c.-38 others(31): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3396 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102547832 | G | GGAAAGAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01123.hp1 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0029a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0001t0001g0078 others(26): Show |
29 | 164 | 0.1768 | 20 | c.-38 others(31): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3393 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102547867 | A | AAGAAAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0059 | 1 | 164 | 0.0061 | 20 | c.-38 others(31): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3358 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102549251 | C | CGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02717.hp1 NA18982.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0020a0003c0003t0002 | a0001c0001t0001g0054 a0001c0001t0020g0072 a0003c0003t0002g0013 |
3 | 164 | 0.0183 | 20 | c.-24 others(31): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 1974 | chr7 | TogoVar | |||||||
SPDYE6_chr7_102340746_102361444 | 102359659 | G | GAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG02486.hp2 HG02717.hp2 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0036 a0004c0005t0003g0143 a0004c0005t0003g0146 others(4): Show |
7 | 439 | 0.0160 | 20 | c.-36 others(31): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 3216 | chr7 | TogoVar | |||||||
SPDYE8_chr7_73014719_73034766 | 73027468 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0004 | a0004c0010 | a0004c0010t0011 | a0004c0010t0011g0016 | 1 | 138 | 0.0073 | 20 | c.130 others(35): Show |
SPDYE8 | ENSG00000273520.6 | transcript | ENST00000333385.11 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24270254 | T | TATACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0013 | 1 | 326 | 0.0031 | 20 | c.-87 others(29): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 576 | chr22 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24288615 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0035 | 1 | 326 | 0.0031 | 20 | c.-38 others(39): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24402097 | G | GCTTCCCC others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(126): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0002g0061 a0001c0001t0002g0077 a0001c0001t0002g0079 others(125): Show |
129 | 326 | 0.3957 | 20 | c.308 others(39): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24402139 | T | TTCCCCTT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 326 | 0.0031 | 20 | c.308 others(39): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20051117 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0004 | a0004c0005 | a0004c0005t0038 | a0004c0005t0038g0237 | 1 | 250 | 0.0040 | 20 | c.-22 others(39): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20051125 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG02293.hp2 HG04199.hp2 NA18986.hp2 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0002c0002t0020a0004c0005t0046 | a0002c0002t0001g0022 a0002c0002t0020g0055 a0004c0005t0046g0202 |
3 | 250 | 0.0120 | 20 | c.-22 others(39): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20051133 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01123.hp1 HG01261.hp2 others(5): Show |
a0001a0002a0004 | a0001c0006a0002c0002a0004c0005 | a0001c0006t0052a0002c0002t0001a0002c0002t0037others(2): Show | a0001c0006t0052g0014 a0002c0002t0001g0018 a0002c0002t0001g0020 others(5): Show |
8 | 250 | 0.0320 | 20 | c.-22 others(39): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20194502 | A | ATTATTAT others(13): Show |
intron_variant | MODIFIER | HG01993.hp1 HG03225.hp1 NA20129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0030 | a0001c0001t0002g0246 a0001c0001t0004g0121 a0001c0001t0004g0245 others(1): Show |
4 | 250 | 0.0160 | 20 | c.284 others(37): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20194502 | A | ATTATTTT others(13): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0026 | a0001c0001t0015g0137 a0001c0001t0026g0186 |
2 | 250 | 0.0080 | 20 | c.284 others(37): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20254134 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0062 | a0001c0003t0062g0242 | 1 | 250 | 0.0040 | 20 | c.268 others(37): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20298948 | A | AGAGAGTG others(13): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0075 | a0001c0003t0075g0147 | 1 | 250 | 0.0040 | 20 | c.305 others(39): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20298948 | A | AGAGTGTG others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0006 | a0001c0006t0052 | a0001c0006t0052g0014 | 1 | 250 | 0.0040 | 20 | c.305 others(39): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20317259 | A | ATTTTTTT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0185 a0001c0001t0027g0187 |
2 | 250 | 0.0080 | 20 | c.*31 others(31): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 15/15 | 3216 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPEF2_chr5_35612863_35819611 | 35661254 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 268 | 0.0037 | 20 | c.116 others(39): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35751092 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0024 | a0024c0033 | a0024c0033t0001 | a0024c0033t0001g0017 | 1 | 268 | 0.0037 | 20 | c.333 others(39): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219431548 | T | TTTCCTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0041 | a0041c0077 | a0041c0077t0003 | a0041c0077t0003g0265 | 1 | 304 | 0.0033 | 20 | c.-34 others(31): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 3294 | chr2 | TogoVar | |||||||
SPEG_chr2_219429843_219498629 | 219477215 | G | GGCGGGGC others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(146): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0039others(32): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(136): Show |
149 | 304 | 0.4901 | 20 | c.456 others(35): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 19/40 | chr2 | TogoVar | |||||||
SPEN_chr1_15842707_15945456 | 15904452 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG02155.hp1 |
a0001a0013 | a0001c0001a0013c0045 | a0001c0001t0001a0013c0045t0001 | a0001c0001t0001g0023 a0001c0001t0001g0058 a0013c0045t0001g0022 |
3 | 304 | 0.0099 | 20 | c.882 others(37): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPG11_chr15_44557696_44668662 | 44587693 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 NA20300.hp2 |
a0002a0027 | a0002c0002a0027c0024 | a0002c0002t0002a0027c0024t0002 | a0002c0002t0002g0021 a0027c0024t0002g0022 |
2 | 190 | 0.0105 | 20 | c.490 others(39): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 28/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44611091 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0010 | a0010c0011 | a0010c0011t0003 | a0010c0011t0003g0173 | 1 | 190 | 0.0053 | 20 | c.314 others(37): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 17/39 | chr15 | TogoVar | |||||||
SPHK2_chr19_48614506_48635405 | 48616643 | C | CCAGCACA others(13): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01167.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(20): Show |
58 | 398 | 0.1457 | 20 | c.-30 others(31): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 2862 | chr19 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228001477 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0015 | a0015c0017 | a0015c0017t0012 | a0015c0017t0012g0292 | 1 | 322 | 0.0031 | 20 | c.444 others(39): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228113603 | A | ATCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01175.hp2 HG03831.hp2 others(5): Show |
a0002a0004a0005 | a0002c0002a0004c0003a0004c0019others(1): Show | a0002c0002t0001a0004c0003t0001a0004c0003t0002others(3): Show | a0002c0002t0001g0158 a0002c0002t0001g0169 a0002c0002t0001g0180 others(5): Show |
8 | 322 | 0.0248 | 20 | c.139 others(37): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228119456 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp2 HG01346.hp2 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0005others(4): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0001others(5): Show | a0001c0001t0002g0126 a0001c0001t0002g0263 a0001c0001t0002g0291 others(9): Show |
12 | 322 | 0.0373 | 20 | c.139 others(39): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228139910 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0122 | 1 | 322 | 0.0031 | 20 | c.33- others(35): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228154512 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0006 | a0003c0006t0009 | a0003c0006t0009g0117 | 1 | 322 | 0.0031 | 20 | c.33- others(37): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228161707 | C | CAGAACAA others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02486.hp2 others(2): Show |
a0003a0004a0005 | a0003c0005a0004c0003a0005c0004 | a0003c0005t0001a0004c0003t0001a0005c0004t0003 | a0003c0005t0001g0307 a0004c0003t0001g0303 a0004c0003t0001g0305 others(2): Show |
5 | 322 | 0.0155 | 20 | c.32+ others(37): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47366822 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02056.hp2 HG02071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0064 others(12): Show |
16 | 390 | 0.0410 | 20 | c.143 others(37): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47381487 | T | TTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01167.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(14): Show |
19 | 390 | 0.0487 | 20 | c.-31 others(31): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2941 | chr11 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113480912 | T | TAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03579.hp2 |
a0001a0009 | a0001c0004a0009c0020 | a0001c0004t0004a0009c0020t0020 | a0001c0004t0004g0163 a0009c0020t0020g0009 |
2 | 364 | 0.0055 | 20 | c.611 others(37): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113486156 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0354 | 1 | 364 | 0.0028 | 20 | c.611 others(37): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113486210 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0170 | 1 | 364 | 0.0028 | 20 | c.611 others(37): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101479304 | G | GAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 398 | 0.0025 | 20 | c.98- others(33): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |