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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPDYE2_chr7_102546226_102568538 | 102557351 | T | TTTTTTTG | intron_variant | MODIFIER | HG01258.hp2 HG02040.hp2 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0055 a0001c0001t0001g0111 |
5 | 128 | 0.0391 | 7 | c.669 others(22): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24390861 | T | TTTTTTTC | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0013others(5): Show | a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0070 others(40): Show |
43 | 324 | 0.1327 | 7 | c.308 others(28): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20015584 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0041a0001c0003t0056a0001c0003t0074others(9): Show | a0001c0001t0041g0019 a0001c0003t0056g0189 a0001c0003t0074g0052 others(42): Show |
45 | 135 | 0.3333 | 7 | c.-22 others(24): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20182119 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(189): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(89): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(189): Show |
192 | 224 | 0.8571 | 7 | c.284 others(26): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20251224 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(52): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(3): Show | a0001c0001t0096a0001c0003t0007a0001c0003t0012others(25): Show | a0001c0001t0096g0101 a0001c0003t0007g0056 a0001c0003t0007g0059 others(52): Show |
55 | 108 | 0.5093 | 7 | c.259 others(26): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20317259 | A | ATTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG01515.hp2 others(19): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0004 | a0001c0003t0007a0001c0003t0017a0001c0003t0022others(4): Show | a0001c0003t0007g0056 a0001c0003t0007g0059 a0001c0003t0007g0062 others(19): Show |
22 | 50 | 0.4400 | 7 | c.*32 others(18): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 15/15 | 3216 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPEF2_chr5_35612863_35819611 | 35715816 | C | CCTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01123.hp1 HG02145.hp1 others(2): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0060 a0001c0003t0001g0026 a0002c0001t0001g0123 others(2): Show |
5 | 78 | 0.0641 | 7 | c.291 others(26): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35728269 | A | AGCTATCT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02258.hp1 others(14): Show |
a0001a0004a0005others(3): Show | a0001c0003a0004c0012a0005c0006others(3): Show | a0001c0003t0001a0004c0012t0001a0005c0006t0001others(3): Show | a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0264 others(14): Show |
17 | 266 | 0.0639 | 7 | c.306 others(24): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEN_chr1_15842707_15945456 | 15904452 | C | CAAAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005a0001c0037 | a0001c0001t0001a0001c0005t0001a0001c0037t0001 | a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0198 others(7): Show |
10 | 73 | 0.1370 | 7 | c.882 others(24): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPG11_chr15_44557696_44668662 | 44601220 | A | ATTTAACT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(50): Show |
a0002a0003a0004others(9): Show | a0002c0002a0003c0003a0004c0004others(9): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(11): Show | a0002c0002t0001g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 others(50): Show |
53 | 188 | 0.2819 | 7 | c.352 others(24): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 20/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44633324 | C | CAAAAAAA | intron_variant | MODIFIER | HG02040.hp1 HG02155.hp1 HG02258.hp2 others(2): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0001 | a0002c0002t0002g0024 a0004c0004t0001g0149 a0004c0004t0001g0166 others(2): Show |
5 | 31 | 0.1613 | 7 | c.173 others(24): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 8/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44649665 | G | GCAGACCA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0003 others(13): Show |
16 | 188 | 0.0851 | 7 | c.145 others(24): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 6/39 | chr15 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228154533 | T | TATATATA | intron_variant | MODIFIER | HG00741.hp2 HG02155.hp2 HG03130.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0003others(2): Show | a0001c0001t0002a0001c0001t0008a0002c0002t0001others(3): Show | a0001c0001t0002g0246 a0001c0001t0008g0112 a0002c0002t0001g0316 others(6): Show |
9 | 229 | 0.0393 | 7 | c.33- others(24): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113491624 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00597.hp2 others(12): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0008 | a0001c0002t0003a0002c0003t0005a0002c0003t0009others(1): Show | a0001c0002t0003g0291 a0002c0003t0005g0335 a0002c0003t0005g0338 others(12): Show |
15 | 220 | 0.0682 | 7 | c.492 others(24): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101487548 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG01255.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0027 others(13): Show |
19 | 227 | 0.0837 | 7 | c.*77 others(16): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 552 | chr12 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47256016 | A | ACTAAGGC | upstream_gene_variant | MODIFIER | HG02897.hp1 HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0215 |
3 | 214 | 0.0140 | 7 | c.-49 others(18): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 4921 | chr8 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47740915 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01928.hp1 others(20): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0005c0006t0002 | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 others(20): Show |
23 | 78 | 0.2949 | 7 | c.*54 others(18): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 4610 | chr8 | TogoVar | |||||||
SPIN3_chrX_56985831_57000541 | 56997277 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01071.hp1 HG02257.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0004g0004 others(1): Show |
7 | 30 | 0.2333 | 7 | c.-20 others(18): Show |
SPIN3 | ENSG00000204271.13 | transcript | ENST00000374919.6 | protein_coding | 1737 | chrX | TogoVar | |||||||
SPINDOC_chr11_63808456_63832716 | 63832007 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0082 a0001c0001t0001g0163 others(25): Show |
43 | 66 | 0.6515 | 7 | c.*48 others(18): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 4292 | chr11 | TogoVar | |||||||
SPINK13_chr5_148263794_148291255 | 148267272 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02280.hp2 HG02451.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0044 a0001c0001t0001g0100 a0001c0001t0001g0101 others(8): Show |
18 | 199 | 0.0905 | 7 | c.-16 others(18): Show |
SPINK13 | ENSG00000214510.10 | transcript | ENST00000398450.5 | protein_coding | 1521 | chr5 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56815798 | A | ACACACAC | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02148.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0133 others(1): Show |
4 | 425 | 0.0094 | 7 | c.250 others(24): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
SPINT1_chr15_40839048_40863207 | 40842779 | A | AAAAAAAT | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01106.hp1 others(38): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0016a0001c0002t0003a0001c0006t0008others(5): Show | a0001c0001t0016g0041 a0001c0002t0003g0006 a0001c0002t0003g0113 others(11): Show |
41 | 355 | 0.1155 | 7 | c.-14 others(18): Show |
SPINT1 | ENSG00000166145.15 | transcript | ENST00000562057.6 | protein_coding | 1268 | chr15 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38259640 | T | TATATATA | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01361.hp2 HG03017.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0208 a0001c0001t0001g0214 others(4): Show |
7 | 340 | 0.0206 | 7 | c.-52 others(18): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4932 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38262200 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(39): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(36): Show |
42 | 170 | 0.2471 | 7 | c.-26 others(18): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 2372 | chr19 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12626887 | T | TATATATA | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010 | a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 others(2): Show |
5 | 237 | 0.0211 | 7 | c.372 others(24): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31804985 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG03130.hp2 NA18964.hp2 others(2): Show |
a0001a0005a0011 | a0001c0001a0001c0015a0001c0023others(2): Show | a0001c0001t0001a0001c0015t0001a0001c0023t0001others(2): Show | a0001c0001t0001g0022 a0001c0015t0001g0167 a0001c0023t0001g0250 others(2): Show |
5 | 83 | 0.0602 | 7 | c.138 others(26): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137013249 | C | CCTAAGAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0036 others(68): Show |
71 | 152 | 0.4671 | 7 | c.590 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137131971 | C | CAAAAAAA | intron_variant | MODIFIER | HG01099.hp1 HG01516.hp2 HG02080.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0019 a0001c0001t0002g0145 a0001c0001t0003g0056 others(8): Show |
11 | 119 | 0.0924 | 7 | c.347 others(24): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137160550 | A | ATATATAT | intron_variant | MODIFIER | HG01257.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0026 | a0001c0001t0013g0109 a0001c0001t0026g0085 |
2 | 132 | 0.0152 | 7 | c.233 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137160558 | T | TATATATA | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(1): Show | a0001c0002t0001g0014 a0001c0002t0005g0121 a0001c0002t0005g0129 others(3): Show |
6 | 126 | 0.0476 | 7 | c.233 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137160630 | A | AATATATT | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(1): Show | a0001c0002t0001g0014 a0001c0002t0001g0044 a0001c0002t0005g0121 others(5): Show |
8 | 151 | 0.0530 | 7 | c.233 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137185704 | A | AGGGTGCC | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02040.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0002g0117 others(21): Show |
24 | 152 | 0.1579 | 7 | c.233 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137217956 | C | CGGTAAGA | intron_variant | MODIFIER | HG01099.hp1 HG02896.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0007a0001c0004t0006 | a0001c0001t0006g0013 a0001c0001t0007g0039 a0001c0004t0006g0037 |
3 | 152 | 0.0197 | 7 | c.232 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166785647 | T | TTTCTTTG | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00741.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0059 a0001c0001t0001g0085 a0001c0001t0001g0091 others(25): Show |
28 | 142 | 0.1972 | 7 | c.709 others(24): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166840771 | G | GTTTTTTT | intron_variant | MODIFIER | HG02004.hp1 HG02280.hp2 HG02630.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0104 others(8): Show |
11 | 48 | 0.2292 | 7 | c.589 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167028406 | A | ACAACAAC | intron_variant | MODIFIER | HG02615.hp2 HG03041.hp2 NA18947.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0115 a0001c0001t0003g0012 a0001c0002t0002g0075 |
3 | 95 | 0.0316 | 7 | c.236 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167205271 | A | ATATATAT | intron_variant | MODIFIER | HG00642.hp1 HG02257.hp1 HG03471.hp2 |
a0001a0003 | a0001c0001a0001c0009a0003c0006 | a0001c0001t0002a0001c0009t0004a0003c0006t0001 | a0001c0001t0002g0009 a0001c0009t0004g0011 a0003c0006t0001g0073 |
3 | 142 | 0.0211 | 7 | c.189 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167220443 | A | ATCACGGC | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0045 others(31): Show |
34 | 142 | 0.2394 | 7 | c.189 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14050012 | G | GCATCACT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp2 others(88): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0030 others(88): Show |
91 | 222 | 0.4099 | 7 | c.479 others(24): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14141029 | C | CCCCCCCA | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0141 a0001c0001t0001g0150 others(17): Show |
20 | 154 | 0.1299 | 7 | c.825 others(24): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14272671 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG02683.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0121 a0001c0001t0002g0135 others(7): Show |
10 | 76 | 0.1316 | 7 | c.*69 others(18): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 4539 | chr11 | TogoVar | |||||||
SPOPL_chr2_138496770_138578547 | 138525663 | A | AAAAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(166): Show |
177 | 369 | 0.4797 | 7 | c.-61 others(26): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPOPL_chr2_138496770_138578547 | 138555131 | G | GTGTGTGT | intron_variant | MODIFIER | HG02155.hp2 NA19000.hp2 NA19064.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0007g0096 others(1): Show |
4 | 84 | 0.0476 | 7 | c.480 others(24): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 5/10 | chr2 | TogoVar | |||||||
SPOUT1_chr9_128814651_128834794 | 128818108 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01106.hp1 others(16): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0002a0002c0002t0006a0002c0002t0028others(4): Show | a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0051 others(8): Show |
19 | 228 | 0.0833 | 7 | c.*46 others(18): Show |
SPOUT1 | ENSG00000198917.13 | transcript | ENST00000361256.10 | protein_coding | 1542 | chr9 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50706389 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG01081.hp1 others(23): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0003a0001c0001t0020a0001c0001t0037others(6): Show | a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0198 others(23): Show |
26 | 278 | 0.0935 | 7 | c.*14 others(18): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 15/15 | 1410 | chr15 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2326357 | T | TGTGTGTG | upstream_gene_variant | MODIFIER | HG02572.hp1 HG04115.hp1 NA19065.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0001 | a0001c0001t0002g0287 a0001c0002t0001g0065 a0001c0003t0001g0177 |
3 | 411 | 0.0073 | 7 | c.-23 others(18): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 2326 | chr19 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2330275 | A | ATTTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp1 HG01891.hp1 others(11): Show |
a0002 | a0002c0007a0002c0008a0002c0011others(1): Show | a0002c0007t0003a0002c0007t0028a0002c0008t0003others(2): Show | a0002c0007t0003g0042 a0002c0007t0003g0169 a0002c0007t0003g0173 others(9): Show |
14 | 201 | 0.0697 | 7 | c.66+ others(22): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120781555 | G | GTGTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01243.hp2 HG02132.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0006a0001c0002t0025others(1): Show | a0001c0002t0005g0078 a0001c0002t0005g0147 a0001c0002t0006g0082 others(5): Show |
8 | 10 | 0.8000 | 7 | c.502 others(24): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120871130 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00621.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0038 | a0001c0001t0002g0001 a0001c0001t0002g0221 a0001c0001t0002g0223 others(35): Show |
39 | 131 | 0.2977 | 7 | c.23+ others(24): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120876616 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017a0001c0001t0029 | a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0124 others(24): Show |
27 | 184 | 0.1467 | 7 | c.23+ others(24): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar |