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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOCS7_chr17_38346844_38410593 | 38388027 | CTCCCAAA others(19): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0057 | 1 | 289 | 0.0035 | -26 | c.168 others(45): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36852287 | TGGGCCAC others(19): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG03688.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0032 | a0001c0001t0002g0183a0001c0001t0002g0198a0001c0001t0002g0206others(1): Show | 4 | 282 | 0.0142 | -26 | c.687 others(45): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36858463 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0237a0001c0001t0005g0238 | 2 | 282 | 0.0071 | -26 | c.687 others(43): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
SON_chr21_33538038_33582481 | 33577604 | TACACACA others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01099.hp2 others(19): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0011others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0031others(19): Show | 22 | 364 | 0.0604 | -26 | c.*11 others(37): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 124 | chr21 | TogoVar | ||||||
SON_chr21_33538038_33582481 | 33577677 | ACACACAC others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0185 | 1 | 364 | 0.0028 | -26 | c.*12 others(37): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 197 | chr21 | TogoVar | ||||||
SORBS1_chr10_95306773_95566371 | 95340827 | GCTGGGAT others(19): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01109.hp2 others(78): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0156a0001c0001t0003g0012a0001c0001t0003g0026others(78): Show | 81 | 300 | 0.2700 | -26 | c.267 others(43): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 28/32 | chr10 | TogoVar | ||||||
SORBS2_chr4_185580523_185817194 | 185731854 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0021 | 1 | 312 | 0.0032 | -26 | c.-41 others(43): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
SORBS2_chr4_185580523_185817194 | 185731858 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0096 | 1 | 312 | 0.0032 | -26 | c.-41 others(43): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
SORBS2_chr4_185580523_185817194 | 185731864 | CTCTATAT others(19): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0273 | 1 | 312 | 0.0032 | -26 | c.-41 others(43): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
SORBS2_chr4_185580523_185817194 | 185735493 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0307 | 1 | 312 | 0.0032 | -26 | c.-96 others(43): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
SORCS1_chr10_106568663_107169706 | 106606274 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(10): Show | a0001c0001t0001g0025a0001c0001t0001g0110a0001c0001t0002g0003others(20): Show | 23 | 130 | 0.1769 | -26 | c.316 others(43): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 23/25 | chr10 | TogoVar | ||||||
SORCS1_chr10_106568663_107169706 | 106700442 | AAACAAAC others(19): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(72): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0110others(72): Show | 75 | 130 | 0.5769 | -26 | c.123 others(45): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 8/25 | chr10 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7387725 | TACACATT others(19): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0151 | 1 | 168 | 0.0060 | -26 | c.481 others(43): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7441812 | CACCCTCC others(19): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG02970.hp1 NA18906.hp2 |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0068a0001c0002t0053a0003c0012t0055 | a0001c0001t0068g0007a0001c0002t0053g0082a0003c0012t0055g0033 | 3 | 168 | 0.0179 | -26 | c.548 others(45): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7461896 | GTGCTGTC others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01109.hp1 others(33): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0003g0048a0001c0001t0003g0098a0001c0001t0004g0097others(33): Show | 36 | 168 | 0.2143 | -26 | c.548 others(45): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS3_chr10_104636290_105270242 | 104684779 | GTTTTTTT others(19): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG03927.hp2 NA18988.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0002t0001a0001c0006t0004 | a0001c0001t0002g0063a0001c0002t0001g0065a0001c0006t0004g0058 | 3 | 134 | 0.0224 | -26 | c.627 others(45): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SORCS3_chr10_104636290_105270242 | 105242468 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0003 | a0001c0002t0003g0060a0001c0002t0003g0070a0001c0003t0003g0054others(1): Show | 4 | 134 | 0.0299 | -26 | c.286 others(45): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SORT1_chr1_109304575_109402918 | 109378699 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01952.hp2 others(17): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0003a0001c0002t0006a0001c0003t0008others(5): Show | a0001c0002t0003g0202a0001c0002t0003g0203a0001c0002t0003g0204others(17): Show | 20 | 240 | 0.0833 | -26 | c.307 others(43): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
SOS2_chr14_50112130_50236578 | 50178664 | GTGTGTGC others(19): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 382 | 0.0026 | -26 | c.969 others(43): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 7/22 | chr14 | TogoVar | ||||||
SOS2_chr14_50112130_50236578 | 50178666 | GTGTGCAT others(19): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG01496.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0016 | a0001c0001t0001a0002c0004t0001a0002c0016t0001 | a0001c0001t0001g0250a0001c0001t0001g0251a0001c0001t0001g0260others(6): Show | 9 | 382 | 0.0236 | -26 | c.969 others(43): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 7/22 | chr14 | TogoVar | ||||||
SOSTDC1_chr7_16456481_16470738 | 16470044 | TTATATAT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(177): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(26): Show | 180 | 422 | 0.4265 | -26 | c.-44 others(37): Show |
SOSTDC1 | ENSG00000171243.8 | transcript | ENST00000307068.5 | protein_coding | 4307 | chr7 | TogoVar | ||||||
SOST_chr17_43748738_43763791 | 43751389 | GAGAGAGA others(19): Show |
G | downstream_gene_variant | MODIFIER | HG01928.hp1 HG01934.hp1 HG01978.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0035 | 9 | 422 | 0.0213 | -26 | c.*39 others(37): Show |
SOST | ENSG00000167941.3 | transcript | ENST00000301691.3 | protein_coding | 2348 | chr17 | TogoVar | ||||||
SOWAHB_chr4_76889152_76903144 | 76900841 | AAAAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03516.hp1 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0008a0004c0006t0014 | a0004c0006t0008g0000a0004c0006t0014g0000 | 4 | 438 | 0.0091 | -26 | c.-30 others(37): Show |
SOWAHB | ENSG00000186212.4 | transcript | ENST00000334306.4 | protein_coding | 2698 | chr4 | TogoVar | ||||||
SOX2_chr3_181706925_181719436 | 181715433 | GTTTTTTT others(19): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(157): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(5): Show | 160 | 412 | 0.3884 | -26 | c.*21 others(37): Show |
SOX2 | ENSG00000181449.4 | transcript | ENST00000325404.3 | protein_coding | 998 | chr3 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23570924 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0117a0001c0001t0119a0001c0002t0048 | a0001c0001t0117g0083a0001c0001t0119g0020a0001c0002t0048g0113 | 3 | 212 | 0.0142 | -26 | c.134 others(45): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23570926 | AAAAAATA others(19): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 212 | 0.0047 | -26 | c.134 others(45): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23726117 | CCGAGAGA others(19): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018a0001c0001t0081others(1): Show | a0001c0001t0007g0023a0001c0001t0007g0198a0001c0001t0018g0022others(2): Show | 5 | 212 | 0.0236 | -26 | c.810 others(43): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23804915 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02970.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0036a0001c0001t0112others(2): Show | a0001c0001t0003g0086a0001c0001t0036g0117a0001c0001t0112g0001others(2): Show | 5 | 212 | 0.0236 | -26 | c.481 others(45): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | ||||||
SOX6_chr11_15961449_16361546 | 16063496 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009 | a0001c0001t0004g0084a0001c0001t0005g0034a0001c0001t0009g0038others(1): Show | 4 | 218 | 0.0184 | -26 | c.110 others(45): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar | ||||||
SOX6_chr11_15961449_16361546 | 16231695 | AAATAGGT others(19): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0043a0001c0001t0003g0002a0001c0001t0009g0047others(5): Show | 8 | 218 | 0.0367 | -26 | c.535 others(43): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 4/15 | chr11 | TogoVar | ||||||
SOX6_chr11_15961449_16361546 | 16291229 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0130 | 1 | 218 | 0.0046 | -26 | c.445 others(45): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095 | 1 | 290 | 0.0035 | -26 | c.205 others(43): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SP9_chr2_174329954_174343500 | 174330089 | TTGCTTAG others(19): Show |
T | upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 404 | 0.0025 | -26 | c.-50 others(37): Show |
SP9 | ENSG00000217236.2 | transcript | ENST00000394967.3 | protein_coding | 4864 | chr2 | TogoVar | ||||||
SPACA4_chr19_48601742_48612714 | 48602702 | AAAATATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | -26 | c.-42 others(37): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4039 | chr19 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112383111 | AAAAGAAA others(19): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0347a0001c0001t0001g0350a0001c0001t0001g0351others(29): Show | 32 | 391 | 0.0818 | -26 | c.94+ others(41): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SPACDR_chr7_100451620_100469260 | 100458195 | GGTGTGTG others(19): Show |
G | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 350 | 0.0029 | -26 | c.388 others(43): Show |
SPACDR | ENSG00000185955.5 | transcript | ENST00000332375.4 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213310319 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0019 | 1 | 86 | 0.0116 | -26 | c.398 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 213468461 | CTCTATGT others(19): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02922.hp1 NA19087.hp1 |
a0009a0010a0011 | a0009c0009a0010c0007a0011c0008 | a0009c0009t0001a0010c0007t0001a0011c0008t0001 | a0009c0009t0001g0085a0010c0007t0001g0083a0011c0008t0001g0084 | 3 | 86 | 0.0349 | -26 | c.943 others(45): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 213468517 | CTATGTAT others(19): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02922.hp1 NA19087.hp1 |
a0009a0010a0011 | a0009c0009a0010c0007a0011c0008 | a0009c0009t0001a0010c0007t0001a0011c0008t0001 | a0009c0009t0001g0085a0010c0007t0001g0083a0011c0008t0001g0084 | 3 | 86 | 0.0349 | -26 | c.943 others(45): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 213468536 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp1 HG03579.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0002c0002t0002a0005c0005t0001 | a0001c0001t0002g0072a0002c0002t0002g0073a0002c0002t0002g0074others(1): Show | 4 | 86 | 0.0465 | -26 | c.943 others(45): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 213593746 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG02015.hp1 NA19087.hp1 |
a0009a0010 | a0009c0009a0010c0007 | a0009c0009t0001a0010c0007t0001 | a0009c0009t0001g0085a0010c0007t0001g0083 | 2 | 86 | 0.0233 | -26 | c.107 others(49): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 213871865 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG03239.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0048a0001c0001t0001g0066a0003c0003t0003g0019 | 3 | 86 | 0.0349 | -26 | c.121 others(45): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 213932147 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02293.hp1 |
a0002a0010 | a0002c0002a0010c0007 | a0002c0002t0001a0010c0007t0001 | a0002c0002t0001g0003a0010c0007t0001g0083 | 2 | 86 | 0.0233 | -26 | c.140 others(45): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 214126033 | TCCTTCCT others(19): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG03130.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0037a0001c0001t0001g0061others(7): Show | 10 | 86 | 0.1163 | -26 | c.159 others(47): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 14/15 | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214126035 | CTTCCTTC others(19): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG03490.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0038a0003c0003t0001g0060 | 2 | 86 | 0.0233 | -26 | c.159 others(47): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 214261107 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 86 | 0.0116 | -26 | c.172 others(49): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG1_chr8_100153587_100246904 | 100214988 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0078 | 1 | 366 | 0.0027 | -26 | c.153 others(45): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPATA31C1_chr9_87912962_87928657 | 87915016 | GGAGGTCT others(19): Show |
G | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 388 | 0.0026 | -26 | c.-29 others(37): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 2945 | chr9 | TogoVar | ||||||
SPATA31D3_chr9_81938500_81955093 | 81945273 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02451.hp2 others(8): Show |
a0001a0004a0010others(4): Show | a0001c0001a0004c0031a0010c0016others(4): Show | a0001c0001t0002a0004c0031t0002a0010c0016t0011others(4): Show | a0001c0001t0002g0076a0004c0031t0002g0058a0010c0016t0011g0013others(4): Show | 11 | 380 | 0.0290 | -26 | c.293 others(39): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPATA5_chr4_122918078_123324433 | 123007542 | GTGTATGT others(19): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02738.hp1 NA18961.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0051a0001c0001t0002g0021a0001c0001t0002g0031others(4): Show | 7 | 262 | 0.0267 | -26 | c.187 others(47): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |