regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTN2_chr19_45480294_45502047 | 45496962 | AGCCGCCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00673.hp2 others(49): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002a0001c0002t0003g0013a0001c0002t0003g0014others(22): Show | 52 | 432 | 0.1204 | -9 | c.-14 others(18): Show |
RTN2 | ENSG00000125744.12 | transcript | ENST00000245923.9 | protein_coding | 1/11 | 138 | chr19 | TogoVar | |||||
RTN4IP1_chr6_106565771_106634498 | 106605814 | CCCAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02738.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024a0001c0001t0002g0046a0001c0001t0002g0047others(1): Show | 4 | 396 | 0.0101 | -9 | c.621 others(26): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
RTN4RL1_chr17_1929677_2030334 | 1967248 | GACAAAAC others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00673.hp2 others(92): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0115a0001c0001t0001g0174a0001c0001t0001g0206others(91): Show | 95 | 384 | 0.2474 | -9 | c.14- others(26): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
RTN4RL1_chr17_1929677_2030334 | 1970011 | CTCTCTCT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(104): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083others(104): Show | 107 | 384 | 0.2787 | -9 | c.14- others(26): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
RTN4RL1_chr17_1929677_2030334 | 1972060 | CCCAGGAG others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG03654.hp1 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0028 | a0001c0002t0004g0029a0001c0002t0004g0236a0001c0002t0028g0061 | 3 | 384 | 0.0078 | -9 | c.14- others(26): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
RTN4R_chr22_20236415_20273318 | 20273035 | GGGCAGGG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 314 | 392 | 0.8010 | -9 | c.-49 others(20): Show |
RTN4R | ENSG00000040608.14 | transcript | ENST00000043402.8 | protein_coding | 4718 | chr22 | TogoVar | ||||||
RTP4_chr3_187363385_187377076 | 187365664 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02559.hp1 others(3): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0003 | 6 | 456 | 0.0132 | -9 | c.-27 others(20): Show |
RTP4 | ENSG00000136514.3 | transcript | ENST00000259030.3 | protein_coding | 2720 | chr3 | TogoVar | ||||||
RTTN_chr18_69998031_70210687 | 70163069 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02630.hp2 others(4): Show |
a0002a0004 | a0002c0010a0004c0005 | a0002c0010t0001a0002c0010t0004a0004c0005t0001others(1): Show | a0002c0010t0001g0132a0002c0010t0004g0133a0004c0005t0001g0109others(4): Show | 7 | 156 | 0.0449 | -9 | c.192 others(28): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 14/48 | chr18 | TogoVar | ||||||
RTTN_chr18_69998031_70210687 | 70184703 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02723.hp2 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0002 | a0004c0005t0001g0109a0004c0005t0001g0110a0004c0005t0001g0111others(4): Show | 7 | 156 | 0.0449 | -9 | c.130 others(28): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 10/48 | chr18 | TogoVar | ||||||
RUBCN_chr3_197663867_197741904 | 197717229 | TTGAGACC others(2): Show |
T | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0010 | a0001c0010t0020a0001c0010t0026 | a0001c0010t0020g0176a0001c0010t0026g0177 | 2 | 186 | 0.0108 | -9 | c.219 others(24): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 2/19 | chr3 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179577859 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(178): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0016others(178): Show | 181 | 376 | 0.4814 | -9 | c.890 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RUFY1_chr5_179545554_179615012 | 179595176 | TTACTAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01071.hp1 others(21): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0012 | a0001c0001t0001a0001c0004t0003a0003c0012t0003 | a0001c0001t0001g0171a0001c0004t0003g0172a0001c0004t0003g0173others(21): Show | 24 | 376 | 0.0638 | -9 | c.151 others(26): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RUFY3_chr4_70716964_70813619 | 70774641 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0021 | a0001c0001t0011g0227a0001c0001t0011g0231a0001c0001t0011g0233others(2): Show | 5 | 254 | 0.0197 | -9 | c.759 others(24): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RUFY3_chr4_70716964_70813619 | 70778573 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00597.hp1 others(57): Show |
a0001a0002a0005 | a0001c0001a0002c0005a0005c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0003g0013a0001c0001t0003g0017a0001c0001t0003g0018others(57): Show | 60 | 254 | 0.2362 | -9 | c.894 others(24): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RUNDC3A_chr17_44303601_44323670 | 44306893 | AAACAACA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01069.hp2 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010a0001c0002t0001g0018a0001c0002t0001g0035others(7): Show | 26 | 412 | 0.0631 | -9 | c.-19 others(20): Show |
RUNDC3A | ENSG00000108309.14 | transcript | ENST00000426726.8 | protein_coding | 1707 | chr17 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87626750 | GTCATATA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01074.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0061a0001c0001t0001g0072others(13): Show | 16 | 202 | 0.0792 | -9 | c.-20 others(20): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1647 | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87626764 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0006g0186a0001c0001t0008g0190a0001c0001t0008g0191others(13): Show | 16 | 202 | 0.0792 | -9 | c.-20 others(20): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1633 | chr7 | TogoVar | ||||||
RUNX1T1_chr8_91949972_92108385 | 92009850 | CGAAAAGA others(2): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0062 | a0001c0001t0035g0054a0001c0001t0062g0063 | 2 | 132 | 0.0152 | -9 | c.558 others(26): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 5/11 | chr8 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34936158 | AGTGCTGT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01109.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0001g0059others(22): Show | 25 | 170 | 0.1471 | -9 | c.59- others(26): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45399349 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01192.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0116a0001c0001t0001g0134a0001c0001t0001g0164others(8): Show | 11 | 178 | 0.0618 | -9 | c.59- others(26): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RUNX2_chr6_45323330_45556082 | 45414754 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0002g0004others(2): Show | 5 | 178 | 0.0281 | -9 | c.59- others(24): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RUSC2_chr9_35485111_35566895 | 35490116 | ACGCCGCC others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(70): Show |
a0001a0005a0007 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0006others(64): Show | 73 | 322 | 0.2267 | -9 | c.-13 others(18): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/12 | 56383 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
RWDD2B_chr21_28999384_29024349 | 29003605 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010a0001c0001t0005g0045a0001c0001t0005g0210 | 7 | 438 | 0.0160 | -9 | c.*28 others(20): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 778 | chr21 | TogoVar | ||||||
RYK_chr3_134152133_134255859 | 134216402 | ACGAATTC others(2): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02717.hp1 HG02809.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0200a0002c0003t0004g0201a0002c0003t0004g0202 | 3 | 376 | 0.0080 | -9 | c.355 others(26): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237065288 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(72): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0012a0001c0001t0001g0099a0001c0001t0003g0023others(72): Show | 75 | 100 | 0.7500 | -9 | c.48+ others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237414991 | GAGAACTC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(67): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(61): Show | a0001c0001t0001g0099a0001c0001t0003g0089a0001c0001t0006g0025others(67): Show | 70 | 100 | 0.7000 | -9 | c.774 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 10/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237511834 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02486.hp2 others(1): Show |
a0001a0004 | a0001c0005a0001c0007a0001c0040others(1): Show | a0001c0005t0012a0001c0007t0016a0001c0040t0039others(1): Show | a0001c0005t0012g0004a0001c0007t0016g0042a0001c0040t0039g0095others(1): Show | 4 | 100 | 0.0400 | -9 | c.282 others(24): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237521546 | CCTGTCTC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG00738.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0001g0099a0001c0001t0003g0023a0001c0001t0003g0089others(29): Show | 32 | 100 | 0.3200 | -9 | c.282 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237527786 | ACTGTAAA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00738.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(24): Show | a0001c0001t0003g0023a0001c0001t0003g0089a0001c0001t0003g0100others(28): Show | 31 | 100 | 0.3100 | -9 | c.282 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 24/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237556279 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0099a0001c0001t0038g0026 | 2 | 100 | 0.0200 | -9 | c.321 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237556880 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0001a0001c0001t0007a0001c0001t0038others(2): Show | a0001c0001t0001g0099a0001c0001t0007g0011a0001c0001t0038g0026others(2): Show | 5 | 100 | 0.0500 | -9 | c.321 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237631613 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02523.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0007a0001c0004t0018a0001c0005t0012others(1): Show | a0001c0001t0007g0082a0001c0004t0018g0047a0001c0005t0012g0004others(1): Show | 4 | 100 | 0.0400 | -9 | c.655 others(25): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 42/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237819619 | AGACCAGC others(2): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG03471.hp2 NA21309.hp2 |
a0001a0002 | a0001c0029a0002c0031a0002c0035 | a0001c0029t0008a0002c0031t0025a0002c0035t0021 | a0001c0029t0008g0090a0002c0031t0025g0056a0002c0035t0021g0010 | 3 | 100 | 0.0300 | -9 | c.145 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 101/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR3_chr15_33305967_33871102 | 33602733 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp1 others(7): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0003a0001c0079others(7): Show | a0001c0001t0010a0001c0003t0006a0001c0079t0006others(7): Show | a0001c0001t0010g0094a0001c0003t0006g0029a0001c0079t0006g0038others(7): Show | 10 | 154 | 0.0649 | -9 | c.192 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 17/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RYR3_chr15_33305967_33871102 | 33772296 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02717.hp1 others(1): Show |
a0019a0022a0035others(1): Show | a0019c0033a0022c0117a0035c0104others(1): Show | a0019c0033t0003a0022c0117t0002a0035c0104t0002others(1): Show | a0019c0033t0003g0152a0022c0117t0002g0123a0035c0104t0002g0134others(1): Show | 4 | 154 | 0.0260 | -9 | c.905 others(26): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 63/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
S100A7A_chr1_153411520_153428222 | 153426808 | AAAAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG02896.hp1 others(2): Show |
a0002a0010 | a0002c0002a0010c0009 | a0002c0002t0009a0010c0009t0014 | a0002c0002t0009g0009a0010c0009t0014g0061 | 5 | 422 | 0.0119 | -9 | c.*75 others(20): Show |
S100A7A | ENSG00000184330.12 | transcript | ENST00000368729.9 | protein_coding | 3587 | chr1 | TogoVar | ||||||
S100P_chr4_6688878_6702170 | 6701096 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0017others(3): Show | 15 | 482 | 0.0311 | -9 | c.*40 others(20): Show |
S100P | ENSG00000163993.7 | transcript | ENST00000296370.4 | protein_coding | 3927 | chr4 | TogoVar | ||||||
S100Z_chr5_76845014_76926650 | 76888367 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0035a0001c0001t0009g0074a0001c0001t0009g0075others(3): Show | 6 | 348 | 0.0172 | -9 | c.*2+ others(26): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
S1PR2_chr19_10216433_10236331 | 10223168 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01952.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0041a0001c0002t0054a0001c0004t0018 | a0001c0002t0041g0109a0001c0002t0054g0100a0001c0004t0018g0019 | 6 | 400 | 0.0150 | -9 | c.*66 others(18): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 2/2 | 667 | chr19 | TogoVar | |||||
SACM1L_chr3_45684396_45750409 | 45697269 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01243.hp1 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0004a0001c0003t0002a0001c0003t0015others(1): Show | a0001c0002t0004g0100a0001c0003t0002g0021a0001c0003t0002g0028others(9): Show | 14 | 354 | 0.0396 | -9 | c.33- others(24): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SACS_chr13_23323830_23438702 | 23409040 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp2 HG02135.hp2 others(18): Show |
a0001a0002a0032 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0002a0001c0002t0028a0001c0003t0004others(8): Show | a0001c0002t0002g0015a0001c0002t0002g0121a0001c0002t0002g0128others(18): Show | 21 | 378 | 0.0556 | -9 | c.20+ others(24): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | ||||||
SAE1_chr19_47125835_47215636 | 47193836 | AAAAAGAA others(2): Show |
A | intron_variant | MODIFIER | NA18963.hp2 NA18965.hp1 NA18973.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296a0001c0001t0001g0323a0001c0001t0001g0325others(5): Show | 8 | 380 | 0.0211 | -9 | c.734 others(26): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SAE1_chr19_47125835_47215636 | 47201360 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(79): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0004a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0093a0001c0001t0001g0099others(79): Show | 82 | 380 | 0.2158 | -9 | c.879 others(26): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SAFB_chr19_5618083_5673478 | 5660342 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02027.hp2 NA18943.hp2 others(4): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0016a0001c0002t0001g0017a0001c0002t0001g0018others(4): Show | 7 | 282 | 0.0248 | -9 | c.186 others(28): Show |
SAFB | ENSG00000160633.13 | transcript | ENST00000588852.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SAGSIN1_chr7_6324411_6353967 | 6351230 | TTAATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0155a0001c0001t0002g0177a0001c0001t0002g0200others(7): Show | 10 | 420 | 0.0238 | -9 | c.-24 others(20): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 2264 | chr7 | TogoVar | ||||||
SAG_chr2_233302816_233352055 | 233315281 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(30): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0002c0007others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0006t0001others(3): Show | a0001c0003t0001g0002a0001c0003t0001g0075a0001c0003t0001g0077others(28): Show | 33 | 368 | 0.0897 | -9 | c.76- others(22): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SAMD12_chr8_118372984_118626963 | 118484747 | CTTGAGTG others(2): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0029a0001c0001t0003g0063a0001c0001t0003g0125others(1): Show | 4 | 188 | 0.0213 | -9 | c.193 others(28): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
SAMD13_chr1_84296708_84355798 | 84338432 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp1 HG01255.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0027others(16): Show | 29 | 316 | 0.0918 | -9 | c.166 others(28): Show |
SAMD13 | ENSG00000203943.9 | transcript | ENST00000394834.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SAMD15_chr14_77372379_77397163 | 77372907 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0008 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(7): Show | 14 | 314 | 0.0446 | -9 | c.-45 others(20): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4471 | chr14 | TogoVar | ||||||
SAMD15_chr14_77372379_77397163 | 77372943 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01891.hp2 NA19043.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0004 | a0002c0002t0002g0012a0002c0004t0004g0017 | 3 | 314 | 0.0096 | -9 | c.-44 others(20): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4435 | chr14 | TogoVar |