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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCN7A_chr2_166398573_166499249 | 166414000 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0216 | 1 | 394 | 0.0025 | 24 | c.341 others(41): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414002 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0208 | 1 | 394 | 0.0025 | 24 | c.341 others(41): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166439055 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01516.hp1 |
a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0062 a0001c0009t0009g0064 |
2 | 394 | 0.0051 | 24 | c.215 others(43): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 15/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166439055 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0074 | 1 | 394 | 0.0025 | 24 | c.215 others(43): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 15/25 | chr2 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51721081 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19043.hp2 NA19084.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0001t0004a0001c0012t0001 | a0001c0001t0003g0017 a0001c0001t0004g0032 a0001c0012t0001g0052 |
3 | 202 | 0.0149 | 24 | c.163 others(41): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166340541 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 296 | 0.0034 | 24 | c.-50 others(43): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166370235 | A | AATCATCA others(17): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0209 | 1 | 296 | 0.0034 | 24 | c.-51 others(41): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23301437 | G | GAGAAAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01884.hp2 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(39): Show |
42 | 306 | 0.1373 | 24 | c.-10 others(35): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 864 | chr16 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23343475 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 306 | 0.0033 | 24 | c.-8- others(39): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23180597 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 320 | 0.0031 | 24 | c.-22 others(35): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 2147 | chr16 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23181743 | A | AAAGGAAG others(17): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 320 | 0.0031 | 24 | c.-11 others(35): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 1001 | chr16 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23204334 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0257 | 1 | 320 | 0.0031 | 24 | c.107 others(43): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCO1_chr17_10667474_10702533 | 10699518 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0063 | a0002c0002t0063g0260 | 1 | 416 | 0.0024 | 24 | c.-20 others(35): Show |
SCO1 | ENSG00000133028.12 | transcript | ENST00000255390.10 | protein_coding | 1986 | chr17 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52945744 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0006a0001c0003t0001a0001c0004t0008 | a0001c0001t0006g0031 a0001c0001t0006g0035 a0001c0001t0006g0036 others(4): Show |
7 | 280 | 0.0250 | 24 | c.128 others(41): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCRG1_chr4_173379701_173404116 | 173399465 | A | AGTGTGTG others(17): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0043 a0001c0001t0005g0117 |
2 | 380 | 0.0053 | 24 | c.-43 others(33): Show |
SCRG1 | ENSG00000164106.8 | transcript | ENST00000296506.8 | protein_coding | 350 | chr4 | TogoVar | |||||||
SCRN1_chr7_29915109_29994801 | 29966159 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | NA18977.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 a0001c0001t0006g0143 |
2 | 274 | 0.0073 | 24 | c.159 others(41): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119444926 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | HG03688.hp1 HG06807.hp1 NA18961.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0029 a0001c0002t0004g0047 a0001c0002t0004g0067 others(1): Show |
4 | 290 | 0.0138 | 24 | c.114 others(43): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119512340 | C | CCCTTCCC others(17): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18953.hp2 NA19000.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0150 a0001c0001t0003g0020 a0001c0001t0003g0057 others(1): Show |
4 | 290 | 0.0138 | 24 | c.72+ others(41): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628897 | T | TTTTCTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 411 | 0.0024 | 24 | c.-17 others(35): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1717 | chr11 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43273561 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0005 | 1 | 280 | 0.0036 | 24 | c.485 others(43): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9051225 | T | TCTATCTA others(17): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0237 | 1 | 358 | 0.0028 | 24 | c.153 others(41): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 13/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01978.hp1 HG02976.hp1 |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0004a0003c0003t0001 | a0002c0001t0004g0293 a0002c0001t0004g0324 a0003c0003t0001g0147 |
3 | 358 | 0.0084 | 24 | c.120 others(41): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18989.hp1 NA21309.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0006a0001c0006t0006 | a0001c0002t0006g0021 a0001c0006t0006g0013 |
2 | 358 | 0.0056 | 24 | c.120 others(41): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227389894 | T | TTTTCTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(29): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0000 a0001c0003t0001g0000 |
32 | 454 | 0.0705 | 24 | c.-19 others(35): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1946 | chr2 | TogoVar | |||||||
SCYGR2_chr2_227593893_227604255 | 227598938 | T | TGTGGTGG others(17): Show |
disruptive_inframe_insertion | MODERATE | HG00733.hp2 HG01069.hp2 |
a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0000 | 2 | 469 | 0.0043 | 24 | c.68_ others(29): Show |
p.Cys others(35): Show |
SCYGR2 | ENSG00000284643.1 | transcript | ENST00000641394.1 | protein_coding | 1/1 | 69/363 | 69/363 | 23/120 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SCYGR2_chr2_227593893_227604255 | 227599009 | T | TGGTGGTG others(17): Show |
disruptive_inframe_insertion | MODERATE | HG02630.hp2 HG02647.hp1 NA19240.hp1 |
a0011 | a0011c0015a0011c0023 | a0011c0015t0001a0011c0023t0001 | a0011c0015t0001g0000 a0011c0023t0001g0000 |
3 | 469 | 0.0064 | 24 | c.129 others(31): Show |
p.Cys others(35): Show |
SCYGR2 | ENSG00000284643.1 | transcript | ENST00000641394.1 | protein_coding | 1/1 | 153/363 | 153/363 | 51/120 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SCYGR8_chr2_227740894_227751220 | 227749841 | A | ATCCTTCC others(17): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG02027.hp1 HG02074.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0002c0003t0001g0000 others(1): Show |
18 | 457 | 0.0394 | 24 | c.*36 others(35): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 3622 | chr2 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75967822 | G | GGGTCCAA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(124): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0007a0003c0004others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(13): Show | a0001c0001t0003g0008 a0001c0001t0003g0111 a0001c0001t0003g0112 others(121): Show |
127 | 376 | 0.3378 | 24 | c.988 others(39): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 11/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75984778 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0163 | 1 | 376 | 0.0027 | 24 | c.91- others(39): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75994061 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0143 a0001c0001t0002g0145 |
4 | 376 | 0.0106 | 24 | c.-32 others(35): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3117 | chr4 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96540340 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 1 | 334 | 0.0030 | 24 | c.60+ others(41): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96565084 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03669.hp2 NA18988.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0005 | a0001c0003t0003a0002c0002t0003a0002c0005t0002 | a0001c0003t0003g0201 a0001c0003t0003g0326 a0002c0002t0003g0197 others(1): Show |
4 | 334 | 0.0120 | 24 | c.61- others(41): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96576368 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0143 a0002c0002t0002g0082 |
2 | 334 | 0.0060 | 24 | c.61- others(41): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243294506 | C | CGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00639.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0059 a0001c0001t0002g0083 a0001c0001t0002g0088 others(26): Show |
29 | 189 | 0.1534 | 24 | c.675 others(41): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0109 others(1): Show |
7 | 398 | 0.0176 | 24 | c.-19 others(35): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDHAF2_chr11_61425124_61451733 | 61434591 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 | 1 | 238 | 0.0042 | 24 | c.37- others(39): Show |
SDHAF2 | ENSG00000167985.7 | transcript | ENST00000301761.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SDHAF3_chr7_97112698_97186763 | 97183901 | C | CTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01123.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0244 a0001c0001t0001g0281 others(15): Show |
19 | 402 | 0.0473 | 24 | c.*26 others(35): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 2139 | chr7 | TogoVar | |||||||
SDHAF4_chr6_70561930_70594569 | 70588842 | A | AATATATA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG03540.hp2 HG04204.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0044 a0002c0002t0008g0071 a0002c0002t0008g0077 |
3 | 370 | 0.0081 | 24 | c.*13 others(33): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 3/3 | 133 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG01978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0143 others(1): Show |
4 | 330 | 0.0121 | 24 | c.180 others(39): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3319878 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01175.hp2 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0035a0001c0047a0001c0050others(6): Show | a0001c0035t0028a0001c0047t0022a0001c0050t0036others(6): Show | a0001c0035t0028g0097 a0001c0047t0022g0091 a0001c0050t0036g0109 others(6): Show |
9 | 116 | 0.0776 | 24 | c.298 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3321778 | C | CTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0005 | a0005c0056 | a0005c0056t0055 | a0005c0056t0055g0021 | 1 | 116 | 0.0086 | 24 | c.298 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3357328 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0039 | a0001c0039t0013 | a0001c0039t0013g0038 | 1 | 116 | 0.0086 | 24 | c.298 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3391966 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0031 | a0031c0085 | a0031c0085t0045 | a0031c0085t0045g0011 | 1 | 116 | 0.0086 | 24 | c.298 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3485683 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0034 | a0034c0076 | a0034c0076t0008 | a0034c0076t0008g0016 | 1 | 116 | 0.0086 | 24 | c.299 others(45): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3504180 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0005 | a0005c0059 | a0005c0059t0012 | a0005c0059t0012g0063 | 1 | 116 | 0.0086 | 24 | c.299 others(45): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3504182 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03453.hp2 HG03471.hp1 |
a0001a0004a0005 | a0001c0041a0004c0001a0005c0058 | a0001c0041t0001a0004c0001t0003a0005c0058t0013 | a0001c0041t0001g0040 a0004c0001t0003g0037 a0005c0058t0013g0045 |
3 | 116 | 0.0259 | 24 | c.299 others(45): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3562888 | G | GGAAGCAA others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp1 others(88): Show |
a0001a0002a0003others(28): Show | a0001c0002a0001c0004a0001c0005others(78): Show | a0001c0002t0004a0001c0002t0040a0001c0004t0001others(87): Show | a0001c0002t0004g0104 a0001c0002t0040g0084 a0001c0004t0001g0039 others(88): Show |
91 | 116 | 0.7845 | 24 | c.299 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3672757 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01978.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0001c0073others(3): Show | a0001c0002t0004a0001c0004t0005a0001c0073t0065others(3): Show | a0001c0002t0004g0104 a0001c0004t0005g0102 a0001c0073t0065g0027 others(3): Show |
6 | 116 | 0.0517 | 24 | c.713 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3687056 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0020 | a0020c0028 | a0020c0028t0020 | a0020c0028t0020g0087 | 1 | 116 | 0.0086 | 24 | c.713 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4068714 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0067 | 1 | 116 | 0.0086 | 24 | c.301 others(41): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |