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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPANXA2_chrX_141584708_141595762 | 141595364 | AAGGGAGG others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 185 | 0.0054 | -20 | c.*46 others(31): Show |
SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 4603 | chrX | TogoVar | |||||||
SPANXC_chrX_141236463_141247517 | 141236802 | CTCCCTCC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0003a0007others(7): Show | a0001c0001a0003c0003a0007c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(25): Show |
219 | 344 | 0.6366 | -20 | c.*46 others(31): Show |
SPANXC | ENSG00000198573.7 | transcript | ENST00000358993.3 | protein_coding | 4660 | chrX | TogoVar | |||||||
SPANXN5_chrX_52791144_52802427 | 52800831 | GCTTTTCT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 16 | 0.0625 | -20 | c.-35 others(31): Show |
SPANXN5 | ENSG00000204363.5 | transcript | ENST00000375511.4 | protein_coding | 3405 | chrX | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87486888 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(83): Show |
a0002a0009 | a0002c0001a0002c0013a0009c0010 | a0002c0001t0001a0002c0001t0002a0002c0013t0001others(1): Show | a0002c0001t0001g0007 a0002c0001t0001g0068 a0002c0001t0001g0070 others(79): Show |
86 | 125 | 0.6880 | -20 | c.153 others(39): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083745 | ATATACTA others(13): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0202 | 1 | 330 | 0.0030 | -20 | c.416 others(37): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083748 | TACTATAT others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0199 | 1 | 340 | 0.0029 | -20 | c.416 others(37): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24278873 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0002 | 1 | 90 | 0.0111 | -20 | c.216 others(39): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 172946430 | TGGATCCG others(13): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(66): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0014others(12): Show | a0001c0001t0001a0001c0004t0001a0001c0014t0001others(12): Show | a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | 198 | 0.3485 | -20 | c.108 others(41): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 6/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961063 | CTTCTTTC others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 168 | 0.0060 | -20 | c.934 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028005 | CCCTCCCT others(13): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp1 HG02622.hp2 others(1): Show |
a0002a0006a0009 | a0002c0002a0006c0019a0009c0018 | a0002c0002t0001a0006c0019t0001a0009c0018t0003 | a0002c0002t0001g0113 a0002c0002t0001g0198 a0006c0019t0001g0105 others(1): Show |
4 | 191 | 0.0209 | -20 | c.759 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028013 | CCCTTCCT others(13): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01255.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0005t0001others(3): Show | a0001c0001t0001g0190 a0001c0004t0001g0019 a0001c0004t0001g0020 others(17): Show |
20 | 130 | 0.1538 | -20 | c.759 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173059832 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01081.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0108 others(38): Show |
41 | 78 | 0.5256 | -20 | c.613 others(39): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173088007 | CGTCTTTC others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02922.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0040 a0002c0002t0001g0004 a0002c0002t0001g0110 |
3 | 141 | 0.0213 | -20 | c.612 others(39): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173100660 | GCACACAC others(13): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 35 | 0.0286 | -20 | c.612 others(39): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173137822 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03041.hp1 HG03098.hp1 others(1): Show |
a0002a0004 | a0002c0005a0004c0006 | a0002c0005t0001a0004c0006t0001 | a0002c0005t0001g0148 a0004c0006t0001g0149 a0004c0006t0001g0150 others(1): Show |
4 | 26 | 0.1538 | -20 | c.-19 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SPATA20_chr17_50542174_50560852 | 50554885 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | NA18953.hp2 NA19057.hp1 NA19068.hp2 others(1): Show |
a0002 | a0002c0008a0002c0025 | a0002c0008t0001a0002c0025t0001 | a0002c0008t0001g0022 a0002c0025t0001g0063 |
4 | 117 | 0.0342 | -20 | c.215 others(37): Show |
SPATA20 | ENSG00000006282.22 | transcript | ENST00000006658.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPATA22_chr17_3435019_3476819 | 3435327 | CTTTTTTT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 38 | 0.0263 | -20 | c.*48 others(31): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 4691 | chr17 | TogoVar | |||||||
SPATA2_chr20_49898391_49920529 | 49903898 | GATAGATA others(13): Show |
G | 3_prime_UTR_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 351 | 0.0028 | -20 | c.*17 others(31): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1701 | chr20 | TogoVar | ||||||
SPATA2_chr20_49898391_49920529 | 49903902 | GATATATA others(13): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0005a0001c0001t0020a0001c0001t0057others(12): Show | a0001c0001t0005g0007 a0001c0001t0005g0024 a0001c0001t0005g0084 others(31): Show |
105 | 185 | 0.5676 | -20 | c.*16 others(31): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1697 | chr20 | TogoVar | ||||||
SPATA31A1_chr9_39350669_39366962 | 39356543 | CATTTTAT others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01993.hp1 HG02622.hp2 others(11): Show |
a0001a0002a0009others(4): Show | a0001c0003a0001c0021a0002c0002others(6): Show | a0001c0003t0001a0001c0003t0002a0001c0021t0002others(7): Show | a0001c0003t0001g0033 a0001c0003t0002g0004 a0001c0003t0002g0008 others(9): Show |
14 | 33 | 0.4242 | -20 | c.190 others(35): Show |
SPATA31A1 | ENSG00000204849.10 | transcript | ENST00000377647.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31A6_chr9_42178659_42194887 | 42184503 | GTTATTTT others(13): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0008 | 1 | 51 | 0.0196 | -20 | c.190 others(35): Show |
SPATA31A6 | ENSG00000185775.10 | transcript | ENST00000332857.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31A7_chr9_61185036_61201280 | 61190875 | TTTTTATT others(13): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0055 | a0003c0055t0001 | a0003c0055t0001g0033 | 1 | 117 | 0.0085 | -20 | c.190 others(35): Show |
SPATA31A7 | ENSG00000276040.5 | transcript | ENST00000619167.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31D3_chr9_81938500_81955093 | 81945273 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01175.hp2 others(6): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0033others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0003g0018 others(3): Show |
9 | 72 | 0.1250 | -20 | c.293 others(33): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50145612 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0020 a0002c0002t0003g0241 a0002c0002t0003g0242 others(2): Show |
5 | 266 | 0.0188 | -20 | c.108 others(39): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123007568 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | NA18966.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0091 a0001c0001t0008g0092 |
2 | 154 | 0.0130 | -20 | c.187 others(41): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017170 | GGGAGAGG others(13): Show |
G | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 260 | 0.0038 | -20 | c.187 others(41): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123214773 | CTTAATGA others(13): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01192.hp2 others(20): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0008a0001c0001t0009a0001c0001t0012others(12): Show | a0001c0001t0008g0017 a0001c0001t0008g0091 a0001c0001t0008g0092 others(20): Show |
23 | 260 | 0.0885 | -20 | c.234 others(41): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4597319 | TACACACA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01074.hp1 others(19): Show |
a0001a0008 | a0001c0001a0001c0006a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(10): Show | a0001c0001t0001g0238 a0001c0001t0006g0002 a0001c0001t0010g0099 others(19): Show |
22 | 80 | 0.2750 | -20 | c.*34 others(31): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 996 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644183 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0036 | a0001c0001t0014g0171 a0001c0001t0036g0194 |
2 | 46 | 0.0435 | -20 | c.227 others(37): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4650824 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG00738.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0078 others(45): Show |
52 | 73 | 0.7123 | -20 | c.226 others(37): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4656486 | AAGGAAGG others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(13): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(4): Show | a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0002g0073 others(13): Show |
16 | 406 | 0.0394 | -20 | c.178 others(35): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46172085 | ACAGAGCA others(13): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG01109.hp1 others(17): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0020a0003c0004t0005others(5): Show | a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0154 others(16): Show |
20 | 250 | 0.0800 | -20 | c.194 others(37): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44341266 | ATATCTAT others(13): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0232 | 1 | 279 | 0.0036 | -20 | c.-15 others(31): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 1383 | chr6 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44354355 | AAATAAAT others(13): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 390 | 0.0026 | -20 | c.287 others(37): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44363644 | TTCCTTCC others(13): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01433.hp2 HG01884.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(18): Show | a0001c0001t0001g0194 a0001c0001t0004g0190 a0001c0001t0004g0191 others(33): Show |
40 | 390 | 0.1026 | -20 | c.574 others(37): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200352311 | TTTTATAT others(13): Show |
T | intron_variant | MODIFIER | HG02735.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0075a0001c0010t0065 | a0001c0001t0075g0029 a0001c0010t0065g0004 |
2 | 10 | 0.2000 | -20 | c.-23 others(39): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74955851 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 34 | 0.0294 | -20 | c.114 others(37): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819843 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 308 | 0.0032 | -20 | c.294 others(35): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819849 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 | 1 | 282 | 0.0035 | -20 | c.294 others(35): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28823702 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | NA18522.hp2 NA19043.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 |
3 | 62 | 0.0484 | -20 | c.380 others(37): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28846722 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 47 | 0.0213 | -20 | c.851 others(37): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYE10_chr7_73099008_73160431 | 73137593 | TGAAAGAA others(13): Show |
T | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0008 | 1 | 58 | 0.0172 | -20 | c.-64 others(41): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74918935 | TTGTGTGT others(13): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 26 | 0.0385 | -20 | c.-44 others(31): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 3858 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43999323 | AACATTCA others(13): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0079 | 1 | 392 | 0.0026 | -20 | c.-42 others(37): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67274831 | CAAAAAAA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01978.hp1 others(8): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0007a0006c0006t0016 | a0002c0002t0001g0001 a0006c0006t0007g0017 a0006c0006t0007g0055 others(3): Show |
11 | 54 | 0.2037 | -20 | c.-26 others(31): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 2109 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67280691 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091 | 1 | 55 | 0.0182 | -20 | c.380 others(35): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE9_chr7_73070972_73091038 | 73083722 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 152 | 0.0066 | -20 | c.130 others(35): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24303209 | GAACTTCC others(13): Show |
G | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0064 | 1 | 324 | 0.0031 | -20 | c.153 others(35): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG02027.hp2 HG02056.hp2 HG02074.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0013a0001c0002t0002others(1): Show | a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 others(10): Show |
13 | 17 | 0.7647 | -20 | c.308 others(41): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24418804 | TGAGATTC others(13): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(186): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0061 a0001c0001t0002g0283 a0001c0001t0002g0284 others(185): Show |
189 | 324 | 0.5833 | -20 | c.*41 others(31): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1067 | chr22 | TogoVar |