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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOX11_chr2_5687384_5706385 | 5694666 | ATTTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG00741.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0028a0001c0001t0062others(8): Show | a0001c0001t0003g0000 a0001c0001t0028g0000 a0001c0001t0062g0000 others(8): Show |
29 | 70 | 0.4143 | -7 | c.*64 others(16): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 1/1 | 645 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SOX30_chr5_157620679_157657438 | 157632047 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(16): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0007a0008c0013others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0002g0010 a0001c0001t0002g0025 a0001c0001t0002g0131 others(11): Show |
19 | 139 | 0.1367 | -7 | c.188 others(26): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SOX3_chrX_140497985_140510069 | 140508956 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(48): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0000 a0001c0008t0001g0000 |
51 | 337 | 0.1513 | -7 | c.-39 others(18): Show |
SOX3 | ENSG00000134595.9 | transcript | ENST00000370536.5 | protein_coding | 3888 | chrX | TogoVar | |||||||
SOX4_chr6_21588751_21603619 | 21597522 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG01361.hp1 HG02273.hp2 HG04115.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 21 | 0.3333 | -7 | c.*15 others(18): Show |
SOX4 | ENSG00000124766.7 | transcript | ENST00000244745.4 | protein_coding | 1/1 | 1576 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SOX4_chr6_21588751_21603619 | 21603285 | TTAATGTG | T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013a0001c0001t0018 | a0001c0001t0009g0000 a0001c0001t0013g0000 a0001c0001t0018g0000 |
4 | 354 | 0.0113 | -7 | c.*73 others(18): Show |
SOX4 | ENSG00000124766.7 | transcript | ENST00000244745.4 | protein_coding | 4667 | chr6 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570931 | ATATATAT | A | intron_variant | MODIFIER | HG01928.hp2 HG02148.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0022a0001c0001t0025others(1): Show | a0001c0001t0008g0037 a0001c0001t0022g0171 a0001c0001t0022g0176 others(3): Show |
6 | 151 | 0.0397 | -7 | c.134 others(26): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23589687 | TTAAATAA | T | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0042 | a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0120 others(5): Show |
8 | 210 | 0.0381 | -7 | c.116 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23634489 | ACAGCTAG | A | intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0083a0001c0001t0084 | a0001c0001t0016g0199 a0001c0001t0083g0090 a0001c0001t0084g0207 |
3 | 210 | 0.0143 | -7 | c.101 others(26): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 8/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23660344 | AATGGATC | A | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00738.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0108 others(54): Show |
57 | 210 | 0.2714 | -7 | c.931 others(24): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 7/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23792622 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00738.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(19): Show | a0001c0001t0002g0201 a0001c0001t0003g0208 a0001c0001t0008g0067 others(20): Show |
23 | 36 | 0.6389 | -7 | c.482 others(26): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23821932 | TATATATA | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(111): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0182 others(111): Show |
114 | 210 | 0.5429 | -7 | c.481 others(26): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230415489 | CTTAGGTG | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(85): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0009others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 others(84): Show |
88 | 288 | 0.3056 | -7 | c.-80 others(16): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 711 | chr2 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230454388 | ATCTTTCT | A | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02809.hp2 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0008a0002c0005t0001 | a0001c0003t0008g0002 a0002c0005t0001g0256 |
3 | 288 | 0.0104 | -7 | c.820 others(24): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230468817 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(41): Show |
a0003a0004 | a0003c0004a0004c0006a0004c0015 | a0003c0004t0002a0003c0004t0003a0003c0004t0004others(2): Show | a0003c0004t0002g0113 a0003c0004t0002g0117 a0003c0004t0002g0134 others(41): Show |
44 | 164 | 0.2683 | -7 | c.129 others(24): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP110_chr2_230160186_230224984 | 230160373 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01243.hp1 others(14): Show |
a0003a0005a0007others(7): Show | a0003c0003a0005c0010a0007c0008others(7): Show | a0003c0003t0057a0005c0010t0014a0007c0008t0006others(8): Show | a0003c0003t0057g0375 a0005c0010t0014g0344 a0007c0008t0006g0297 others(13): Show |
17 | 101 | 0.1683 | -7 | c.*87 others(18): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 4812 | chr2 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230366710 | CTATTATT | C | intron_variant | MODIFIER | HG01106.hp2 HG02055.hp1 HG02280.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(4): Show |
9 | 35 | 0.2571 | -7 | c.524 others(24): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 5/18 | chr2 | TogoVar | |||||||
SP140_chr2_230220736_230318215 | 230279863 | TCCTCCTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp1 others(32): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0007a0004c0003t0001 | a0001c0001t0001g0019 a0001c0001t0001g0183 a0001c0001t0001g0185 others(31): Show |
35 | 368 | 0.0951 | -7 | c.149 others(26): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP2_chr17_47891236_47933957 | 47925905 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(85): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0012 | a0001c0001t0001a0001c0001t0006a0001c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(46): Show |
88 | 212 | 0.4151 | -7 | c.174 others(24): Show |
SP2 | ENSG00000167182.16 | transcript | ENST00000376741.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21442031 | TGTGTGTA | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0280 a0001c0001t0014g0004 a0001c0001t0014g0173 others(4): Show |
8 | 424 | 0.0189 | -7 | c.167 others(28): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21519187 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01069.hp1 others(59): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0134 a0001c0001t0001g0135 others(55): Show |
62 | 313 | 0.1981 | -7 | c.*79 others(18): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 4366 | chr7 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602705 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00673.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 22 | 286 | 0.0769 | -7 | c.-42 others(18): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4036 | chr19 | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383126 | AAAGAAAG | A | intron_variant | MODIFIER | HG02004.hp2 HG02071.hp1 HG02083.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0063 a0001c0001t0002g0067 others(10): Show |
14 | 359 | 0.0390 | -7 | c.94+ others(22): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112416282 | GTTGTTGT | G | intron_variant | MODIFIER | HG02622.hp2 HG03041.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0251 a0001c0003t0001g0260 a0001c0003t0001g0262 others(3): Show |
6 | 390 | 0.0154 | -7 | c.445 others(26): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPADH_chr10_122667850_122684494 | 122679497 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01192.hp1 HG01192.hp2 others(59): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0050 others(9): Show |
62 | 412 | 0.1505 | -7 | c.*45 others(16): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 4 | chr10 | TogoVar | |||||||
SPAG11A_chr8_7843008_7865943 | 7852854 | CTATTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0073 a0001c0001t0002g0008 a0001c0001t0002g0022 others(16): Show |
29 | 128 | 0.2266 | -7 | c.214 others(24): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG11A_chr8_7843008_7865943 | 7863213 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01167.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0011 a0002c0002t0001g0009 a0002c0002t0001g0014 others(11): Show |
15 | 18 | 0.8333 | -7 | c.*23 others(18): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2271 | chr8 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213593746 | CTTTTTTT | C | intron_variant | MODIFIER | HG01256.hp2 HG01361.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 others(1): Show |
4 | 9 | 0.4444 | -7 | c.107 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214033665 | CAAGTGTT | C | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01361.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0068 others(13): Show |
16 | 86 | 0.1860 | -7 | c.152 others(28): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214060432 | AGATTATG | A | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 NA20129.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 others(1): Show |
4 | 86 | 0.0465 | -7 | c.152 others(28): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214165469 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp1 HG03098.hp2 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(5): Show |
8 | 25 | 0.3200 | -7 | c.172 others(28): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214388193 | ATTTTATT | A | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02976.hp2 others(1): Show |
a0005a0008a0010 | a0005c0005a0008c0010a0010c0011 | a0005c0005t0001a0008c0010t0001a0010c0011t0001 | a0005c0005t0001g0005 a0005c0005t0001g0081 a0008c0010t0001g0002 others(1): Show |
4 | 86 | 0.0465 | -7 | c.172 others(28): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | chr2 | TogoVar | |||||||
SPAG4_chr20_35610829_35626094 | 35619140 | CCCCGACT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00642.hp1 others(58): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0002t0001a0003c0009t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(9): Show |
61 | 318 | 0.1918 | -7 | c.794 others(20): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51025316 | CAAAAAAA | C | intron_variant | MODIFIER | HG01175.hp2 HG01928.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0001 | a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0259 others(5): Show |
8 | 78 | 0.1026 | -7 | c.784 others(24): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 6/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51053849 | AAAAAAGT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01168.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0207 a0001c0001t0001g0222 a0001c0001t0001g0223 others(3): Show |
6 | 290 | 0.0207 | -7 | c.495 others(24): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51053853 | AAGTATAT | A | intron_variant | MODIFIER | HG00639.hp2 HG01928.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0238 others(3): Show |
6 | 231 | 0.0260 | -7 | c.495 others(24): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51061716 | CCATTGTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02895.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0022a0002c0003t0010a0002c0003t0018 | a0001c0001t0022g0070 a0002c0003t0010g0197 a0002c0003t0010g0198 others(2): Show |
5 | 290 | 0.0172 | -7 | c.425 others(24): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51075195 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01069.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009 | a0001c0001t0002g0014 a0001c0001t0002g0029 a0001c0001t0002g0073 others(13): Show |
16 | 157 | 0.1019 | -7 | c.424 others(24): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPANXN1_chrX_145242503_145261208 | 145242766 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG02257.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0013 | a0001c0001t0001g0068 a0001c0001t0004g0022 a0001c0001t0004g0035 others(5): Show |
9 | 279 | 0.0323 | -7 | c.-48 others(18): Show |
SPANXN1 | ENSG00000203923.5 | transcript | ENST00000370493.4 | protein_coding | 4736 | chrX | TogoVar | |||||||
SPANXN5_chrX_52791144_52802427 | 52792392 | GTGTGTGT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(6): Show |
202 | 298 | 0.6779 | -7 | c.*40 others(18): Show |
SPANXN5 | ENSG00000204363.5 | transcript | ENST00000375511.4 | protein_coding | 3751 | chrX | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87471250 | TGAGAAAA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(169): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0006others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(24): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 others(155): Show |
172 | 388 | 0.4433 | -7 | c.*25 others(18): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 2084 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87491951 | CCCCCAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(82): Show |
a0002a0009a0011 | a0002c0001a0002c0013a0009c0010others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0013t0001others(2): Show | a0002c0001t0001g0007 a0002c0001t0001g0068 a0002c0001t0001g0069 others(80): Show |
85 | 387 | 0.2196 | -7 | c.121 others(24): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87506775 | TATCTATC | T | intron_variant | MODIFIER | HG00597.hp2 HG03225.hp1 HG03471.hp2 others(2): Show |
a0001a0002a0006 | a0001c0002a0002c0001a0006c0009 | a0001c0002t0001a0002c0001t0002a0006c0009t0002 | a0001c0002t0001g0062 a0002c0001t0002g0279 a0002c0001t0002g0321 others(2): Show |
5 | 388 | 0.0129 | -7 | c.-11 others(24): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083743 | ATATATAC | A | intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 HG02895.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0040 a0001c0001t0001g0143 a0001c0001t0003g0021 others(15): Show |
18 | 340 | 0.0529 | -7 | c.416 others(24): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32096218 | TGAGGTCA | T | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0014 | a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 others(7): Show |
10 | 340 | 0.0294 | -7 | c.587 others(24): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24228108 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(82): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0005a0001c0001t0015a0001c0001t0024others(58): Show | a0001c0001t0005g0109 a0001c0001t0015g0141 a0001c0001t0024g0040 others(82): Show |
85 | 269 | 0.3160 | -7 | c.165 others(26): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 172922920 | TCAAAAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01255.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0055 others(17): Show |
20 | 198 | 0.1010 | -7 | c.133 others(26): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961056 | TTTCTTTC | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00738.hp2 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0014others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0014t0001others(5): Show | a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0034 others(26): Show |
29 | 198 | 0.1465 | -7 | c.934 others(24): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173005327 | GAAAAAAA | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01255.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0002a0003c0003others(1): Show | a0001c0004t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0004t0001g0089 a0002c0002t0001g0010 a0002c0002t0001g0087 others(5): Show |
8 | 161 | 0.0497 | -7 | c.848 others(26): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173067419 | CAATAGAA | C | intron_variant | MODIFIER | HG02818.hp2 HG03041.hp1 HG03098.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0149 a0004c0006t0001g0150 a0004c0006t0001g0151 |
3 | 198 | 0.0152 | -7 | c.613 others(26): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173088073 | TCTTTCTG | T | intron_variant | MODIFIER | HG02300.hp1 HG02559.hp1 HG02922.hp1 others(3): Show |
a0002a0003a0011 | a0002c0002a0003c0003a0003c0007others(1): Show | a0002c0002t0001a0003c0003t0001a0003c0007t0001others(1): Show | a0002c0002t0001g0139 a0002c0002t0001g0142 a0003c0003t0001g0096 others(3): Show |
6 | 198 | 0.0303 | -7 | c.612 others(26): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar |