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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG4_chr20_35610829_35626094 | 35615424 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00738.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(2): Show |
9 | 123 | 0.0732 | 7 | c.-58 others(16): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG6_chr10_22340496_22422610 | 22411840 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG02257.hp1 HG02602.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001a0002c0002t0008 | a0001c0001t0005g0008 a0002c0002t0001g0010 a0002c0002t0001g0012 others(3): Show |
6 | 37 | 0.1622 | 7 | c.146 others(24): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51066567 | G | GAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp2 others(70): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0051 others(70): Show |
73 | 165 | 0.4424 | 7 | c.425 others(26): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87474743 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00639.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0002others(9): Show | a0001c0002t0001g0053 a0001c0002t0003g0167 a0001c0002t0003g0168 others(45): Show |
49 | 287 | 0.1707 | 7 | c.196 others(24): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 10/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87511967 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0004others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0006 a0001c0002t0001g0024 a0001c0002t0001g0025 others(41): Show |
46 | 183 | 0.2514 | 7 | c.-11 others(26): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151680216 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01167.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0294 a0001c0001t0005g0252 a0001c0001t0007g0316 others(9): Show |
12 | 130 | 0.0923 | 7 | c.-13 others(24): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32110810 | A | ATATATAG | intron_variant | MODIFIER | HG01891.hp1 HG02897.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0068 a0001c0001t0013g0069 a0001c0001t0013g0341 |
3 | 340 | 0.0088 | 7 | c.683 others(24): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32110842 | A | ATACATAG | intron_variant | MODIFIER | HG01891.hp1 HG02897.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0068 a0001c0001t0013g0069 a0001c0001t0013g0341 |
3 | 340 | 0.0088 | 7 | c.683 others(24): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32149256 | A | ATTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01255.hp1 HG02738.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016 | a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0260 others(5): Show |
8 | 17 | 0.4706 | 7 | c.172 others(26): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189902 | T | TTATATAA | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02109.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0104a0001c0002t0016a0001c0002t0051others(12): Show | a0001c0001t0104g0030 a0001c0002t0016g0202 a0001c0002t0051g0027 others(12): Show |
15 | 353 | 0.0425 | 7 | c.-11 others(28): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24208576 | T | TGGGGGTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(155): Show | a0001c0001t0002g0117 a0001c0001t0002g0162 a0001c0001t0002g0186 others(244): Show |
247 | 354 | 0.6977 | 7 | c.-11 others(28): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24239693 | T | TAAAAAAA | intron_variant | MODIFIER | HG02897.hp1 HG02965.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(1): Show | a0001c0003t0046a0001c0005t0011a0001c0005t0036others(3): Show | a0001c0003t0046g0008 a0001c0005t0011g0315 a0001c0005t0036g0052 others(3): Show |
6 | 9 | 0.6667 | 7 | c.165 others(26): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24247478 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01358.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0007others(3): Show | a0001c0001t0011a0001c0001t0015a0001c0005t0019others(4): Show | a0001c0001t0011g0233 a0001c0001t0015g0141 a0001c0005t0019g0041 others(4): Show |
7 | 58 | 0.1207 | 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 | 172905685 | T | TCACAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01167.hp2 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(7): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0055 others(35): Show |
38 | 198 | 0.1919 | 7 | c.158 others(26): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173023137 | A | ATGTGTTG | intron_variant | MODIFIER | HG04204.hp1 NA19056.hp1 NA19056.hp2 |
a0001a0003 | a0001c0004a0003c0007 | a0001c0004t0001a0003c0007t0001 | a0001c0004t0001g0056 a0003c0007t0001g0159 a0003c0007t0001g0164 |
3 | 117 | 0.0256 | 7 | c.759 others(24): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028016 | T | TCCCTCCC | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 HG02922.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0068 a0001c0001t0001g0083 a0002c0002t0001g0110 |
3 | 198 | 0.0152 | 7 | c.759 others(24): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173064320 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01891.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0086 a0002c0002t0001g0005 a0002c0002t0001g0087 others(10): Show |
13 | 125 | 0.1040 | 7 | c.613 others(26): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173085997 | T | TTTTTTTG | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG02970.hp2 others(3): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0061 a0002c0002t0001g0143 a0002c0002t0001g0199 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 | |||||||
SPATA17_chr1_217626344_217876696 | 217704230 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02965.hp2 HG03453.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0015a0001c0001t0024others(3): Show | a0001c0001t0008g0045 a0001c0001t0015g0059 a0001c0001t0024g0040 others(4): Show |
7 | 64 | 0.1094 | 7 | c.395 others(26): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217770978 | A | AATTTTTT | intron_variant | MODIFIER | HG01099.hp2 HG01993.hp1 HG02004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0009 a0001c0001t0002g0003 a0001c0001t0002g0034 others(2): Show |
5 | 29 | 0.1724 | 7 | c.520 others(24): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217829627 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0209 others(13): Show |
16 | 34 | 0.4706 | 7 | c.100 others(28): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84513842 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG01169.hp2 others(18): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0004c0005 | a0001c0003t0001a0001c0003t0004a0003c0004t0001others(2): Show | a0001c0003t0001g0077 a0001c0003t0004g0043 a0003c0004t0001g0015 others(16): Show |
21 | 210 | 0.1000 | 7 | c.-13 others(26): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA21_chr1_16393643_16442424 | 16414893 | C | CAAAAAAA | intron_variant | MODIFIER | HG01358.hp1 HG01358.hp2 HG02148.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0075 others(13): Show |
16 | 75 | 0.2133 | 7 | c.145 others(24): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 5/12 | chr1 | TogoVar | |||||||
SPATA31D3_chr9_81938500_81955093 | 81945273 | C | CTTTTTTT | intron_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01192.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0025a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0035a0001c0025t0001others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0072 a0001c0001t0035g0010 others(5): Show |
13 | 76 | 0.1711 | 7 | c.293 others(20): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31D4_chr9_81923428_81939998 | 81930201 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02523.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0036 |
10 | 46 | 0.2174 | 7 | c.293 others(20): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31F3_chr9_34884066_34900764 | 34886795 | A | ATCTATGT | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0051 |
3 | 428 | 0.0070 | 7 | c.*25 others(18): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 2270 | chr9 | TogoVar | |||||||
SPATA33_chr16_89652836_89675458 | 89674496 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0023 others(10): Show |
26 | 56 | 0.4643 | 7 | c.*49 others(18): Show |
SPATA33 | ENSG00000167523.15 | transcript | ENST00000579310.6 | protein_coding | 4039 | chr16 | TogoVar | |||||||
SPATA3_chr2_230991121_231013040 | 231011072 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01928.hp1 others(30): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0003c0007others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0005others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0125 others(13): Show |
33 | 146 | 0.2260 | 7 | c.*39 others(18): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 3033 | chr2 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50141727 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG01993.hp2 HG02165.hp2 others(10): Show |
a0002a0008 | a0002c0002a0002c0005a0002c0010others(1): Show | a0002c0002t0001a0002c0005t0001a0002c0010t0001others(1): Show | a0002c0002t0001g0117 a0002c0005t0001g0251 a0002c0005t0001g0252 others(10): Show |
13 | 70 | 0.1857 | 7 | c.108 others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123184532 | C | CTTTTTTT | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 NA18522.hp2 others(4): Show |
a0001a0005a0006 | a0001c0001a0005c0008a0006c0007 | a0001c0001t0006a0001c0001t0015a0001c0001t0018others(3): Show | a0001c0001t0006g0003 a0001c0001t0015g0181 a0001c0001t0018g0001 others(4): Show |
7 | 121 | 0.0579 | 7 | c.234 others(28): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123195453 | G | GTATGTCT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(84): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0098 others(84): Show |
87 | 260 | 0.3346 | 7 | c.234 others(28): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123196167 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(41): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0050 a0001c0001t0001g0099 a0001c0001t0001g0185 others(41): Show |
44 | 65 | 0.6769 | 7 | c.234 others(28): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123272768 | G | GTTGAAAT | intron_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0150 a0002c0002t0010g0151 a0002c0002t0010g0169 |
3 | 253 | 0.0119 | 7 | c.250 others(28): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123272768 | G | GTTGAGAT | intron_variant | MODIFIER | HG01192.hp2 HG02280.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018a0001c0001t0038others(1): Show | a0001c0001t0012g0241 a0001c0001t0012g0244 a0001c0001t0012g0246 others(4): Show |
7 | 257 | 0.0272 | 7 | c.250 others(28): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA7_chr14_88380657_88443460 | 88411009 | G | GGGAGACA | intron_variant | MODIFIER | HG00642.hp2 HG02109.hp1 HG02145.hp2 others(16): Show |
a0004a0006 | a0004c0004a0006c0005 | a0004c0004t0001a0006c0005t0001a0006c0005t0003 | a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0038 others(11): Show |
19 | 362 | 0.0525 | 7 | c.239 others(24): Show |
SPATA7 | ENSG00000042317.17 | transcript | ENST00000393545.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46162590 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(119): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0003a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(85): Show |
122 | 142 | 0.8592 | 7 | c.545 others(22): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44341313 | T | TCTATCTA | upstream_gene_variant | MODIFIER | HG01943.hp1 HG02004.hp2 HG02132.hp2 others(2): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0003a0002c0005t0003 | a0002c0002t0003g0001 a0002c0002t0003g0034 a0002c0002t0003g0201 others(1): Show |
5 | 361 | 0.0139 | 7 | c.-14 others(18): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 1336 | chr6 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49385863 | G | GTTTGTTT | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG03704.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 others(2): Show |
5 | 113 | 0.0442 | 7 | c.-24 others(28): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49429622 | A | ATTTTTAT | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(27): Show |
30 | 156 | 0.1923 | 7 | c.-24 others(28): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74951810 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 others(55): Show |
80 | 311 | 0.2572 | 7 | c.114 others(24): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPDYC_chr11_65165233_65178374 | 65166391 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01070.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
10 | 114 | 0.0877 | 7 | c.-39 others(18): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3841 | chr11 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76529606 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01071.hp2 HG01081.hp2 NA18950.hp2 others(3): Show |
a0002a0012 | a0002c0002a0012c0011 | a0002c0002t0003a0012c0011t0003 | a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0097 others(2): Show |
6 | 128 | 0.0469 | 7 | c.*32 others(18): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 1706 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76539072 | T | TGTTGTTG | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0015 | a0002c0002t0002g0070 a0002c0002t0002g0074 a0002c0002t0015g0055 |
3 | 254 | 0.0118 | 7 | c.380 others(22): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76539075 | T | TGTTGTTG | intron_variant | MODIFIER | HG00639.hp2 HG02683.hp2 HG06807.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 others(1): Show |
4 | 251 | 0.0159 | 7 | c.380 others(22): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SPDYE17_chr7_77017306_77037361 | 77020796 | C | CTGTGGGT | downstream_gene_variant | MODIFIER | NA18955.hp1 NA18992.hp1 NA19060.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0012 a0002c0002t0004g0026 a0002c0002t0004g0039 others(2): Show |
5 | 294 | 0.0170 | 7 | c.*30 others(18): Show |
SPDYE17 | ENSG00000186645.11 | transcript | ENST00000671986.3 | protein_coding | 1509 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77056411 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp2 HG02083.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0005 | a0001c0001t0001g0129 a0001c0001t0001g0164 a0001c0001t0013g0165 others(9): Show |
19 | 186 | 0.1022 | 7 | c.669 others(22): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 5/8 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0013others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0018others(6): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(50): Show |
131 | 458 | 0.2860 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
SPDYE2B_chr7_102645319_102667625 | 102654716 | C | CAACAACA | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01167.hp2 others(20): Show |
a0001a0008a0011 | a0001c0001a0001c0005a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0003others(7): Show | a0001c0001t0001g0054 a0001c0001t0001g0093 a0001c0001t0003g0024 others(18): Show |
23 | 65 | 0.3538 | 7 | c.380 others(22): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102555635 | A | ACAACAAC | intron_variant | MODIFIER | HG02280.hp2 HG02683.hp2 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0017a0003c0003 | a0001c0001t0001a0001c0001t0015a0001c0017t0001others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0107 a0001c0001t0001g0134 others(3): Show |
6 | 147 | 0.0408 | 7 | c.380 others(22): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102557336 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01123.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0023a0002c0002others(1): Show | a0001c0001t0001a0001c0023t0024a0002c0002t0003others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0048 a0001c0001t0001g0075 others(3): Show |
7 | 91 | 0.0769 | 7 | c.669 others(22): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |