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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA12_chr3_57055664_57080432 | 57067454 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(111): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0035 others(61): Show |
114 | 227 | 0.5022 | 9 | c.-32 others(28): Show |
SPATA12 | ENSG00000186451.2 | transcript | ENST00000334325.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24239693 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG01358.hp2 others(4): Show |
a0001a0002a0004 | a0001c0005a0001c0031a0002c0008others(2): Show | a0001c0005t0005a0001c0005t0014a0001c0005t0047others(4): Show | a0001c0005t0005g0044 a0001c0005t0014g0204 a0001c0005t0047g0216 others(4): Show |
7 | 10 | 0.7000 | 9 | c.165 others(28): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24247478 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01081.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(11): Show | a0001c0001t0002g0162 a0001c0001t0002g0186 a0001c0001t0006g0298 others(14): Show |
17 | 68 | 0.2500 | 9 | c.165 others(28): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 173064320 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02300.hp1 HG02809.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0015 a0002c0002t0001g0061 a0002c0002t0001g0109 others(10): Show |
13 | 125 | 0.1040 | 9 | c.613 others(28): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217727247 | C | CAAAAATA others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01433.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0023a0001c0002t0009a0001c0002t0030others(1): Show | a0001c0001t0023g0053 a0001c0002t0009g0076 a0001c0002t0030g0232 others(1): Show |
4 | 92 | 0.0435 | 9 | c.396 others(28): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217770978 | A | AATTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01168.hp2 HG01952.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0025 others(13): Show |
16 | 40 | 0.4000 | 9 | c.520 others(26): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217786750 | T | TTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01168.hp1 others(19): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0037 others(19): Show |
22 | 57 | 0.3860 | 9 | c.872 others(26): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52061487 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01516.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0130 a0001c0001t0003g0028 a0001c0001t0003g0029 others(18): Show |
28 | 40 | 0.7000 | 9 | c.309 others(24): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA21_chr1_16393643_16442424 | 16414893 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02486.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(2): Show | a0001c0001t0001g0056 a0001c0001t0002g0300 a0001c0001t0002g0304 others(7): Show |
10 | 69 | 0.1449 | 9 | c.145 others(26): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 5/12 | chr1 | TogoVar | |||||||
SPATA21_chr1_16393643_16442424 | 16426580 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18945.hp1 NA18964.hp2 others(4): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0001a0005c0005t0001a0005c0005t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0229 a0005c0005t0001g0005 others(4): Show |
7 | 325 | 0.0215 | 9 | c.35- others(24): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3435327 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01891.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(3): Show |
6 | 43 | 0.1395 | 9 | c.*48 others(20): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 4691 | chr17 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3465790 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG00738.hp2 others(26): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0003 a0004c0004t0002g0051 a0004c0004t0002g0052 others(13): Show |
29 | 301 | 0.0963 | 9 | c.172 others(26): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
SPATA31A6_chr9_42178659_42194887 | 42184503 | G | GTTATTTA others(2): Show |
intron_variant | MODIFIER | HG03490.hp2 NA19000.hp2 |
a0005a0027 | a0005c0005a0027c0034 | a0005c0005t0004a0027c0034t0004 | a0005c0005t0004g0009 a0027c0034t0004g0020 |
2 | 52 | 0.0385 | 9 | c.190 others(24): Show |
SPATA31A6 | ENSG00000185775.10 | transcript | ENST00000332857.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31A7_chr9_61185036_61201280 | 61199613 | G | GCAGAAAC others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01074.hp2 others(33): Show |
a0004a0007a0008others(7): Show | a0004c0006a0004c0023a0004c0044others(14): Show | a0004c0006t0002a0004c0023t0002a0004c0044t0002others(15): Show | a0004c0006t0002g0008 a0004c0006t0002g0011 a0004c0006t0002g0021 others(23): Show |
36 | 224 | 0.1607 | 9 | c.*34 others(20): Show |
SPATA31A7 | ENSG00000276040.5 | transcript | ENST00000619167.2 | protein_coding | 3334 | chr9 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50141727 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0028 others(87): Show |
94 | 151 | 0.6225 | 9 | c.108 others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123010562 | G | GATATTAG others(2): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02280.hp2 HG03098.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0021a0003c0003t0022others(1): Show | a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0021g0009 others(4): Show |
7 | 260 | 0.0269 | 9 | c.187 others(30): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123074095 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(89): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0050 others(89): Show |
92 | 151 | 0.6093 | 9 | c.221 others(30): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123138373 | C | CTTACTCT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01361.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0008a0001c0001t0009a0001c0001t0015others(8): Show | a0001c0001t0008g0017 a0001c0001t0008g0091 a0001c0001t0008g0092 others(18): Show |
21 | 260 | 0.0808 | 9 | c.234 others(30): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123250414 | G | GCAGGGGG others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01934.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0008a0001c0001t0009a0004c0006t0053others(1): Show | a0001c0001t0008g0017 a0001c0001t0008g0091 a0001c0001t0008g0092 others(5): Show |
8 | 260 | 0.0308 | 9 | 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 | 123261973 | G | GGGGGTCT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01192.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0006g0003 a0001c0001t0008g0017 a0001c0001t0008g0091 others(18): Show |
21 | 260 | 0.0808 | 9 | c.250 others(28): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48299516 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(64): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0119 others(64): Show |
67 | 76 | 0.8816 | 9 | c.128 others(26): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
SPATS2L_chr2_200301693_200487264 | 200477515 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0041a0001c0001t0075a0001c0002t0013others(1): Show | a0001c0001t0041g0283 a0001c0001t0075g0029 a0001c0002t0013g0006 others(3): Show |
6 | 104 | 0.0577 | 9 | c.128 others(25): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49498145 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0036 a0001c0001t0001g0140 a0001c0001t0001g0142 others(4): Show |
7 | 32 | 0.2188 | 9 | c.703 others(26): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74951810 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0278 others(4): Show |
9 | 240 | 0.0375 | 9 | c.114 others(26): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28823745 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 a0001c0001t0001g0255 a0001c0001t0001g0258 others(1): Show |
4 | 324 | 0.0123 | 9 | c.380 others(26): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 5/7 | chr2 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73123780 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0201 a0001c0001t0003g0205 |
2 | 213 | 0.0094 | 9 | c.-63 others(28): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73123788 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01975.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0004 | a0001c0001t0003g0188 a0002c0004t0004g0176 |
2 | 18 | 0.1111 | 9 | c.-63 others(28): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73131203 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01361.hp1 others(12): Show |
a0001a0003 | a0001c0002a0001c0005a0003c0006 | a0001c0002t0001a0001c0005t0001a0001c0005t0013others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(12): Show |
15 | 109 | 0.1376 | 9 | c.-63 others(30): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77054354 | T | TGTAGAGA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG03139.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0008a0003c0003t0023 | a0003c0003t0008g0030 a0003c0003t0008g0056 a0003c0003t0008g0058 others(2): Show |
6 | 414 | 0.0145 | 9 | c.755 others(24): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77056411 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00642.hp2 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0024a0001c0001t0026others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 others(33): Show |
56 | 223 | 0.2511 | 9 | c.669 others(24): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 5/8 | chr7 | TogoVar | |||||||
SPDYE2B_chr7_102645319_102667625 | 102647004 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01175.hp2 HG02135.hp1 others(7): Show |
a0003a0004a0007 | a0003c0003a0004c0007a0007c0010 | a0003c0003t0004a0003c0003t0028a0004c0007t0005others(2): Show | a0003c0003t0004g0003 a0003c0003t0004g0005 a0003c0003t0004g0051 others(7): Show |
10 | 47 | 0.2128 | 9 | c.-37 others(20): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3314 | chr7 | TogoVar | |||||||
SPDYE2B_chr7_102645319_102667625 | 102664310 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG01168.hp2 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0025others(13): Show | a0001c0001t0001g0099 a0001c0001t0014g0010 a0001c0001t0025g0088 others(24): Show |
29 | 83 | 0.3494 | 9 | c.*32 others(20): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 1686 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102555616 | A | AACAACAA others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 NA19009.hp1 |
a0001a0002 | a0001c0001a0001c0007a0002c0009 | a0001c0001t0021a0001c0007t0012a0002c0009t0013 | a0001c0001t0021g0045 a0001c0007t0012g0100 a0002c0009t0013g0046 |
3 | 164 | 0.0183 | 9 | c.380 others(24): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102565227 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 HG02040.hp1 HG02132.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0014a0004c0005t0007others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0107 a0001c0001t0014g0070 others(2): Show |
5 | 80 | 0.0625 | 9 | c.*32 others(20): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 1690 | chr7 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20182119 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0022a0001c0003t0058a0001c0003t0065others(3): Show | a0001c0003t0022g0196 a0001c0003t0022g0198 a0001c0003t0058g0195 others(4): Show |
7 | 39 | 0.1795 | 9 | c.284 others(28): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20317259 | A | ATTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01168.hp2 HG01261.hp1 others(23): Show |
a0001a0003a0004 | a0001c0003a0001c0006a0001c0010others(5): Show | a0001c0003t0040a0001c0003t0054a0001c0003t0076others(13): Show | a0001c0003t0040g0204 a0001c0003t0054g0213 a0001c0003t0076g0042 others(23): Show |
26 | 54 | 0.4815 | 9 | c.*32 others(20): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 15/15 | 3216 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPEN_chr1_15842707_15945456 | 15936642 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01975.hp2 HG02004.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0006others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0003c0003t0001g0122 others(3): Show |
6 | 191 | 0.0314 | 9 | c.100 others(28): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89536586 | G | GAGGTGAG others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG02970.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0234 a0003c0003t0002g0235 a0003c0003t0002g0236 others(1): Show |
4 | 355 | 0.0113 | 9 | c.132 others(28): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPHKAP_chr2_227974955_228186687 | 228132843 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(75): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0005others(8): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0001others(13): Show | a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0034 others(75): Show |
78 | 270 | 0.2889 | 9 | c.33- others(22): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228154533 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01256.hp2 HG01258.hp1 others(3): Show |
a0002a0003a0005others(1): Show | a0002c0012a0003c0005a0005c0004others(1): Show | a0002c0012t0001a0003c0005t0006a0005c0004t0003others(1): Show | a0002c0012t0001g0015 a0002c0012t0001g0016 a0003c0005t0006g0122 others(3): Show |
6 | 226 | 0.0265 | 9 | c.33- others(26): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47380561 | T | TTTGTTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(185): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0044 others(127): Show |
188 | 193 | 0.9741 | 9 | c.-22 others(20): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2015 | chr11 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113491624 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01167.hp1 others(17): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0001c0002t0014a0002c0003t0030 | a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0267 others(17): Show |
20 | 225 | 0.0889 | 9 | c.492 others(26): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101479307 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 others(2): Show |
5 | 186 | 0.0269 | 9 | c.98- others(22): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | chr12 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47740915 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01192.hp2 HG02280.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0145 others(7): Show |
10 | 65 | 0.1538 | 9 | c.*54 others(20): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 4610 | chr8 | TogoVar | |||||||
SPIN1_chr9_88383444_88483694 | 88445518 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02109.hp1 HG02129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0014 a0001c0001t0002g0169 a0001c0001t0003g0030 others(1): Show |
4 | 27 | 0.1481 | 9 | c.53- others(24): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPINDOC_chr11_63808456_63832716 | 63820889 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0176 a0001c0002t0001g0006 a0001c0002t0002g0003 others(22): Show |
51 | 112 | 0.4554 | 9 | c.934 others(26): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPINK2_chr4_56804861_56826701 | 56812563 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01123.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0116 others(19): Show |
33 | 252 | 0.1310 | 9 | c.250 others(24): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148068578 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp2 HG03195.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0005 | a0007c0008t0005g0142 a0007c0008t0005g0143 a0007c0008t0005g0144 others(1): Show |
4 | 127 | 0.0315 | 9 | c.82- others(24): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 2/32 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148126307 | A | AATGATGA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02559.hp1 HG02886.hp1 others(3): Show |
a0006a0008a0014 | a0006c0012a0008c0028a0014c0023 | a0006c0012t0007a0008c0028t0001a0014c0023t0001 | a0006c0012t0007g0005 a0008c0028t0001g0103 a0014c0023t0001g0233 others(1): Show |
6 | 223 | 0.0269 | 9 | c.286 others(26): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 29/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK8_chr3_48301842_48338661 | 48315720 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01109.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0032 others(8): Show |
14 | 142 | 0.0986 | 9 | c.239 others(26): Show |
SPINK8 | ENSG00000229453.3 | transcript | ENST00000434006.3 | protein_coding | 6/7 | chr3 | TogoVar |