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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCYL2_chr12_100262177_100346715 | 100281019 | G | GTTTTGTT others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0014 | 1 | 220 | 0.0046 | 13 | c.-28 others(30): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCYL2_chr12_100262177_100346715 | 100281019 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18942.hp2 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0198 a0001c0005t0005g0202 |
2 | 220 | 0.0091 | 13 | c.-28 others(30): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCYL2_chr12_100262177_100346715 | 100294120 | C | CCTCACCT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00673.hp1 others(12): Show |
a0001 | a0001c0003a0001c0016 | a0001c0003t0002a0001c0016t0012 | a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 others(12): Show |
15 | 220 | 0.0682 | 13 | c.335 others(30): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCYL3_chr1_169844631_169898896 | 169850980 | C | CTTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0090 | 1 | 418 | 0.0024 | 13 | c.*27 others(24): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2732 | chr1 | TogoVar | ||||||
SDAD1_chr4_75944915_75995945 | 75978982 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02970.hp1 NA19058.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0161 a0001c0001t0003g0214 a0001c0002t0004g0338 |
3 | 376 | 0.0080 | 13 | c.295 others(30): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75978982 | G | GAAGAAAA others(6): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0313 | 1 | 376 | 0.0027 | 13 | c.295 others(30): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75984778 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 a0001c0001t0005g0272 |
2 | 376 | 0.0053 | 13 | c.91- others(28): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75994045 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0002g0124 |
2 | 376 | 0.0053 | 13 | c.-32 others(24): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3101 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75994045 | A | AAAAAAAT others(6): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01975.hp2 HG02040.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0120 a0001c0001t0002g0130 a0001c0001t0002g0137 others(6): Show |
9 | 376 | 0.0239 | 13 | c.-32 others(24): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3101 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75994045 | A | AAAAATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02602.hp2 HG02647.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0127 a0001c0001t0001g0261 a0001c0001t0002g0135 others(6): Show |
9 | 376 | 0.0239 | 13 | c.-32 others(24): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3101 | chr4 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96565084 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18961.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0140 a0001c0003t0003g0177 |
2 | 334 | 0.0060 | 13 | c.61- others(30): 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(6): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0001 | a0001c0001t0007g0129 a0002c0002t0001g0004 |
2 | 334 | 0.0060 | 13 | c.61- others(30): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC3_chr1_30864466_30913758 | 30865120 | T | TTTATTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02735.hp1 HG02738.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0013a0001c0001t0084a0001c0005t0007others(2): Show | a0001c0001t0013g0030 a0001c0001t0013g0161 a0001c0001t0013g0167 others(6): Show |
9 | 386 | 0.0233 | 13 | c.*80 others(24): Show |
SDC3 | ENSG00000162512.16 | transcript | ENST00000339394.7 | protein_coding | 4345 | chr1 | TogoVar | |||||||
SDCBP_chr8_58548261_58587858 | 58585317 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0157 | 1 | 388 | 0.0026 | 13 | c.*35 others(24): Show |
SDCBP | ENSG00000137575.12 | transcript | ENST00000260130.9 | protein_coding | 2460 | chr8 | TogoVar | |||||||
SDF2L1_chr22_21637302_21649299 | 21638929 | C | CTTAAAGG others(6): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | 13 | c.-34 others(24): Show |
SDF2L1 | ENSG00000128228.5 | transcript | ENST00000248958.5 | protein_coding | 3372 | chr22 | TogoVar | |||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01884.hp1 others(11): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0115 others(7): Show |
14 | 398 | 0.0352 | 13 | c.-19 others(24): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDHAF2_chr11_61425124_61451733 | 61434591 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095 | 1 | 238 | 0.0042 | 13 | c.37- others(28): Show |
SDHAF2 | ENSG00000167985.7 | transcript | ENST00000301761.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SDHAF3_chr7_97112698_97186763 | 97142042 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG04184.hp2 NA19011.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0358 |
3 | 402 | 0.0075 | 13 | c.174 others(32): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDHAF3_chr7_97112698_97186763 | 97183901 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02615.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0007g0008 a0001c0002t0001g0253 |
3 | 402 | 0.0075 | 13 | c.*26 others(24): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 2139 | chr7 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0026 |
2 | 330 | 0.0061 | 13 | c.-48 others(24): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG04199.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0024 others(1): Show |
4 | 330 | 0.0121 | 13 | c.-48 others(24): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 HG06807.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 |
3 | 330 | 0.0091 | 13 | c.-48 others(24): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161334716 | G | GTGTGAGC others(6): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0007 | a0002c0007t0011 | a0002c0007t0011g0258 | 1 | 330 | 0.0030 | 13 | c.180 others(30): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03710.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(10): Show |
13 | 330 | 0.0394 | 13 | c.180 others(28): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3346827 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03041.hp2 |
a0001a0002 | a0001c0062a0002c0055 | a0001c0062t0031a0002c0055t0002 | a0001c0062t0031g0100 a0002c0055t0002g0101 |
2 | 116 | 0.0172 | 13 | c.298 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3346827 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01175.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0010a0001c0035others(6): Show | a0001c0002t0002a0001c0010t0002a0001c0035t0028others(6): Show | a0001c0002t0002g0095 a0001c0010t0002g0085 a0001c0035t0028g0097 others(6): Show |
9 | 116 | 0.0776 | 13 | c.298 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3346827 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0102 | 1 | 116 | 0.0086 | 13 | c.298 others(32): 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(6): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01516.hp2 HG03491.hp1 |
a0001a0004a0028 | a0001c0033a0004c0001a0028c0029 | a0001c0033t0058a0004c0001t0059a0028c0029t0049 | a0001c0033t0058g0043 a0004c0001t0059g0024 a0028c0029t0049g0035 |
3 | 116 | 0.0259 | 13 | c.298 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3410578 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02922.hp2 |
a0001a0024 | a0001c0017a0001c0088a0024c0095 | a0001c0017t0011a0001c0088t0009a0024c0095t0025 | a0001c0017t0011g0051 a0001c0088t0009g0054 a0024c0095t0025g0049 |
3 | 116 | 0.0259 | 13 | c.298 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3418145 | G | GCAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03225.hp1 NA19030.hp1 |
a0001a0002 | a0001c0089a0001c0094a0002c0091 | a0001c0089t0009a0001c0094t0006a0002c0091t0010 | a0001c0089t0009g0048 a0001c0094t0006g0053 a0002c0091t0010g0047 |
3 | 116 | 0.0259 | 13 | c.298 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3435321 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0011 | a0001c0011t0039 | a0001c0011t0039g0061 | 1 | 116 | 0.0086 | 13 | c.298 others(34): 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(6): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0018 | a0018c0024 | a0018c0024t0061 | a0018c0024t0061g0013 | 1 | 116 | 0.0086 | 13 | c.299 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3644773 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18906.hp2 |
a0002a0011 | a0002c0013a0011c0022 | a0002c0013t0015a0011c0022t0072 | a0002c0013t0015g0025 a0011c0022t0072g0007 |
2 | 116 | 0.0172 | 13 | c.713 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4029228 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01243.hp1 others(7): Show |
a0002a0009a0010others(6): Show | a0002c0091a0009c0019a0009c0020others(7): Show | a0002c0091t0010a0009c0019t0074a0009c0020t0070others(7): Show | a0002c0091t0010g0047 a0009c0019t0074g0009 a0009c0020t0070g0008 others(7): Show |
10 | 116 | 0.0862 | 13 | c.260 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4029228 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01109.hp2 others(8): Show |
a0001a0002a0010others(1): Show | a0001c0011a0001c0047a0001c0068others(7): Show | a0001c0011t0039a0001c0047t0022a0001c0068t0068others(8): Show | a0001c0011t0039g0061 a0001c0047t0022g0091 a0001c0068t0068g0001 others(8): Show |
11 | 116 | 0.0948 | 13 | c.260 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4029228 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02809.hp2 HG03225.hp2 |
a0001a0019 | a0001c0011a0001c0026a0019c0051 | a0001c0011t0008a0001c0026t0024a0019c0051t0019 | a0001c0011t0008g0028 a0001c0026t0024g0088 a0019c0051t0019g0092 |
3 | 116 | 0.0259 | 13 | c.260 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4074916 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0068 | a0001c0068t0068 | a0001c0068t0068g0001 | 1 | 116 | 0.0086 | 13 | c.301 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4087479 | G | GCGCACAC others(6): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0012 | a0012c0015 | a0012c0015t0017 | a0012c0015t0017g0059 | 1 | 116 | 0.0086 | 13 | c.332 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4091334 | C | CTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0025 | a0025c0084 | a0025c0084t0044 | a0025c0084t0044g0004 | 1 | 116 | 0.0086 | 13 | c.332 others(34): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73426208 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0026 | a0001c0026t0022 | a0001c0026t0022g0115 | 1 | 204 | 0.0049 | 13 | c.158 others(32): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 12/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73509902 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02897.hp1 HG02897.hp2 |
a0001a0004 | a0001c0084a0004c0095 | a0001c0084t0088a0004c0095t0037 | a0001c0084t0088g0015 a0004c0095t0037g0061 |
2 | 204 | 0.0098 | 13 | c.65- others(28): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56310169 | A | AGGAGGAG others(6): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0136 |
4 | 398 | 0.0101 | 13 | c.466 others(30): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56318736 | G | GGCTTGAT others(6): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0188 | 1 | 398 | 0.0025 | 13 | c.-15 others(30): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
SDSL_chr12_113417380_113443276 | 113421991 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01361.hp2 HG01496.hp2 others(18): Show |
a0001a0008 | a0001c0001a0001c0007a0001c0014others(1): Show | a0001c0001t0001a0001c0007t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0058 others(18): Show |
21 | 298 | 0.0705 | 13 | c.-50 others(22): Show |
SDSL | ENSG00000139410.15 | transcript | ENST00000403593.9 | protein_coding | 388 | chr12 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84700593 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 320 | 0.0031 | 13 | c.52- others(28): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC11C_chr18_59134884_59163832 | 59142372 | A | ATTTTATA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(136): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(51): Show |
139 | 444 | 0.3131 | 13 | c.87+ others(28): Show |
SEC11C | ENSG00000166562.9 | transcript | ENST00000587834.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEC11C_chr18_59134884_59163832 | 59143850 | A | ATTTTCTT others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0162 |
2 | 444 | 0.0045 | 13 | c.87+ others(28): Show |
SEC11C | ENSG00000166562.9 | transcript | ENST00000587834.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77215903 | C | CTAGTAGG others(6): Show |
3_prime_UTR_variant | MODIFIER | HG03491.hp1 HG03492.hp1 HG04228.hp1 |
a0001a0004 | a0001c0012a0004c0006 | a0001c0012t0022a0004c0006t0022 | a0001c0012t0022g0191 a0004c0006t0022g0189 a0004c0006t0022g0190 |
3 | 430 | 0.0070 | 13 | c.*18 others(24): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 1908 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L1_chr17_77135969_77222101 | 77216019 | C | CGTAGGTA others(6): Show |
3_prime_UTR_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0373 | 1 | 430 | 0.0023 | 13 | c.*20 others(24): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2020 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEC14L1_chr17_77135969_77222101 | 77216069 | C | CTAGTAGG others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02293.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0059a0001c0002t0055 | a0001c0001t0059g0390 a0001c0002t0055g0335 |
2 | 430 | 0.0047 | 13 | c.*20 others(24): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2072 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |