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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOWAHB_chr4_76889152_76903144 | 76900866 | ACAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02970.hp1 |
a0005 | a0005c0007 | a0005c0007t0011a0005c0007t0018 | a0005c0007t0011g0000 a0005c0007t0018g0000 |
2 | 396 | 0.0051 | -18 | c.-30 others(29): Show |
SOWAHB | ENSG00000186212.4 | transcript | ENST00000334306.4 | protein_coding | 2723 | chr4 | TogoVar | |||||||
SOWAHC_chr2_109609364_109623990 | 109614509 | GGGGCCCC others(11): Show |
G | disruptive_inframe_deletion | MODERATE | HG03491.hp2 | a0005 | a0005c0012 | a0005c0012t0002 | a0005c0012t0002g0000 | 1 | 430 | 0.0023 | -18 | c.35_ others(23): Show |
p.Ala others(11): Show |
SOWAHC | ENSG00000198142.5 | transcript | ENST00000356454.5 | protein_coding | 1/1 | 161/4627 | 35/1578 | 12/525 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SOX2_chr3_181706925_181719436 | 181715433 | GTTTTTTT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0004g0000 |
2 | 7 | 0.2857 | -18 | c.*21 others(29): Show |
SOX2 | ENSG00000181449.4 | transcript | ENST00000325404.3 | protein_coding | 998 | chr3 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23540361 | TATAATAA others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG01243.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(25): Show | a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0120 others(42): Show |
45 | 94 | 0.4787 | -18 | c.177 others(37): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 13/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570930 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0134 | 1 | 160 | 0.0063 | -18 | c.134 others(37): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23726118 | CGAGAGAG others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0042 | a0001c0001t0001g0182 a0001c0001t0042g0077 |
2 | 16 | 0.1250 | -18 | c.810 others(35): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23804913 | TTTTATAT others(11): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0154 | 1 | 208 | 0.0048 | -18 | c.481 others(37): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23804915 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG02258.hp1 HG02622.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0002g0201 others(10): Show |
13 | 21 | 0.6190 | -18 | c.481 others(37): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23863793 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00735.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(21): Show | a0001c0001t0002g0047 a0001c0001t0006g0068 a0001c0001t0009g0041 others(21): Show |
24 | 38 | 0.6316 | -18 | c.271 others(37): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16063496 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG01993.hp1 HG02027.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0177 a0001c0001t0002g0075 a0001c0001t0002g0076 others(9): Show |
12 | 40 | 0.3000 | -18 | c.110 others(37): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16198025 | CTGTTGTT others(11): Show |
C | intron_variant | MODIFIER | HG02273.hp2 NA18986.hp1 NA19003.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0124 a0001c0001t0007g0125 a0001c0001t0007g0142 others(2): Show |
5 | 13 | 0.3846 | -18 | c.536 others(37): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16287257 | GTCTCTCT others(11): Show |
G | intron_variant | MODIFIER | HG02293.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 a0001c0002t0001g0024 |
2 | 17 | 0.1176 | -18 | c.445 others(37): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16312266 | TCACAATA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0009a0001c0001t0041others(1): Show | a0001c0001t0005g0040 a0001c0001t0009g0038 a0001c0001t0009g0039 others(3): Show |
6 | 216 | 0.0278 | -18 | c.445 others(35): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981299 | TGTGTGAG others(11): Show |
T | upstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0002 | 1 | 337 | 0.0030 | -18 | c.-62 others(27): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 470 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981331 | AGAGAGAG others(11): Show |
A | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0003 | 1 | 431 | 0.0023 | -18 | c.-59 others(27): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 438 | chr16 | TogoVar | |||||||
SOX9_chr17_72116020_72131416 | 72123979 | GCAGCAGC others(11): Show |
G | conservative_inframe_deletion | MODERATE | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 400 | 0.0025 | -18 | c.112 others(27): Show |
p.Gln others(13): Show |
SOX9 | ENSG00000125398.8 | transcript | ENST00000245479.3 | protein_coding | 3/3 | 1495/3931 | 1123/1530 | 375/509 | chr17 | TogoVar | |||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01943.hp2 others(21): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0017others(5): Show | a0001c0001t0004g0098 a0001c0001t0005g0093 a0001c0001t0005g0127 others(21): Show |
24 | 25 | 0.9600 | -18 | c.205 others(35): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP110_chr2_230160186_230224984 | 230206595 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 NA18947.hp2 others(2): Show |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0002a0002c0002t0003a0002c0002t0027others(2): Show | a0002c0002t0002g0185 a0002c0002t0003g0049 a0002c0002t0027g0303 others(2): Show |
5 | 40 | 0.1250 | -18 | c.898 others(35): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
SP140_chr2_230220736_230318215 | 230307982 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 |
a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0143 a0009c0013t0001g0144 |
2 | 338 | 0.0059 | -18 | c.205 others(37): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21445988 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 48 | 0.0208 | -18 | c.167 others(39): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP8_chr7_20777279_20791886 | 20790841 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02970.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0008g0010 |
3 | 188 | 0.0160 | -18 | c.-40 others(29): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3956 | chr7 | TogoVar | |||||||
SPACA3_chr17_32986847_33002877 | 32991613 | TGTGTGTG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01243.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0059 others(17): Show |
26 | 468 | 0.0556 | -18 | c.-32 others(27): Show |
SPACA3 | ENSG00000141316.13 | transcript | ENST00000269053.8 | protein_coding | 233 | chr17 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602704 | AATATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG01515.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 24 | 213 | 0.1127 | -18 | c.-42 others(29): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4037 | chr19 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602776 | GATGTCAC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | -18 | c.-42 others(29): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 3965 | chr19 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602825 | TTTATTAT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
4 | 85 | 0.0471 | -18 | c.-41 others(29): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 3916 | chr19 | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112377411 | TGGAAAAT others(11): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 390 | 0.0026 | -18 | c.94+ others(31): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383111 | AAAAGAAA others(11): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp2 HG01255.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0338 a0001c0004t0001g0159 a0002c0002t0001g0009 others(8): Show |
11 | 238 | 0.0462 | -18 | c.94+ others(33): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112383131 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 2 | 354 | 0.0056 | -18 | c.94+ others(33): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACDR_chr7_100451620_100469260 | 100458195 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(11): Show |
20 | 82 | 0.2439 | -18 | c.388 others(35): Show |
SPACDR | ENSG00000185955.5 | transcript | ENST00000332375.4 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213310319 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02886.hp1 HG02976.hp2 others(1): Show |
a0002a0007a0010others(1): Show | a0002c0002a0007c0007a0010c0011others(1): Show | a0002c0002t0001a0007c0007t0001a0010c0011t0001others(1): Show | a0002c0002t0001g0077 a0007c0007t0001g0083 a0010c0011t0001g0086 others(1): Show |
4 | 5 | 0.8000 | -18 | c.398 others(33): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213426836 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02976.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0004 |
2 | 21 | 0.0952 | -18 | c.942 others(37): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213643346 | TTTTATAT others(11): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01516.hp2 HG02559.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 others(5): Show |
8 | 53 | 0.1509 | -18 | c.107 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213643348 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02293.hp2 HG02922.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001a0003c0003t0002 | a0002c0002t0001g0051 a0003c0003t0001g0028 a0003c0003t0001g0031 others(1): Show |
4 | 47 | 0.0851 | -18 | c.107 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213728876 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 15 | 0.0667 | -18 | c.107 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213932147 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02647.hp1 HG03490.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0066 others(2): Show |
5 | 13 | 0.3846 | -18 | c.140 others(37): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213932949 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 27 | 0.0370 | -18 | c.140 others(37): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214037864 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 NA20129.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 others(1): Show |
4 | 31 | 0.1290 | -18 | c.152 others(39): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214059186 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0019 | 1 | 29 | 0.0345 | -18 | c.152 others(39): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214076525 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02717.hp1 NA19043.hp1 |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0001a0006c0006t0001 | a0003c0003t0001g0080 a0006c0006t0001g0024 |
2 | 86 | 0.0233 | -18 | c.152 others(39): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214126043 | CTTCCTTC others(11): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 84 | 0.0119 | -18 | c.159 others(39): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214177971 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02109.hp1 HG02886.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0003 | a0001c0001t0001g0027 a0002c0002t0001g0077 a0003c0003t0003g0019 |
3 | 26 | 0.1154 | -18 | c.172 others(39): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214310480 | GTTTTGGT others(11): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03195.hp2 HG03209.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(3): Show |
6 | 86 | 0.0698 | -18 | c.172 others(39): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214350950 | GGAATAAG others(11): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0082 | 1 | 86 | 0.0116 | -18 | c.172 others(39): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG17_chr1_117948590_118190228 | 118058482 | TAGGCATG others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03139.hp1 |
a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0015 a0008c0017t0001g0016 |
2 | 264 | 0.0076 | -18 | c.254 others(37): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 18/48 | chr1 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100214988 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG01884.hp2 others(20): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0009others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(7): Show | a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0154 others(20): Show |
23 | 88 | 0.2614 | -18 | c.153 others(37): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 50981150 | ATGATACC others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00621.hp1 others(54): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 others(54): Show |
57 | 290 | 0.1966 | -18 | c.323 others(37): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 25/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51053850 | AAAAAGTA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0292 | 1 | 288 | 0.0035 | -18 | c.495 others(35): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51053855 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | NA19011.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0157 |
2 | 133 | 0.0150 | -18 | c.495 others(35): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51089647 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 290 | 0.0034 | -18 | c.304 others(35): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51095958 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01168.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0219 others(6): Show |
9 | 281 | 0.0320 | -18 | c.304 others(37): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar |