| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MAEA_chr4_1284891_1345137 | 1317175 | T | TGCAGGCC others(614): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 388 | 0.0026 | 621 | c.456 others(638): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAEA_chr4_1284891_1345137 | 1334046 | T | TCACCCCT others(614): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 388 | 0.0026 | 621 | c.765 others(638): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579126 | C | CCACCACC others(614): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 362 | 0.0028 | 621 | c.391 others(636): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAN2B2_chr4_6570189_6628362 | 6579325 | C | CCATCACC others(614): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 362 | 0.0028 | 621 | c.391 others(636): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAP3K19_chr2_134959491_135052447 | 135033820 | G | GGGGGGCT others(614): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0100others(1): Show | 4 | 334 | 0.0120 | 621 | c.-28 others(640): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(614): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18971.hp1 |
a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0001 | 2 | 272 | 0.0074 | 621 | c.250 others(636): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(614): Show |
intron_variant | MODIFIER | HG01074.hp2 NA20300.hp2 |
a0001a0014 | a0001c0001a0014c0021 | a0001c0001t0001a0014c0021t0001 | a0001c0001t0001g0085a0014c0021t0001g0089 | 2 | 140 | 0.0143 | 621 | c.114 others(640): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(614): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 394 | 0.0025 | 621 | c.-8+ others(634): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(614): Show |
intron_variant | MODIFIER | NA18964.hp1 NA18971.hp1 NA19084.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 4 | 394 | 0.0102 | 621 | c.-8+ others(634): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(614): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01496.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 3 | 394 | 0.0076 | 621 | c.-8+ others(634): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(614): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 394 | 0.0025 | 621 | c.-8+ others(634): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(614): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0153 | 1 | 394 | 0.0025 | 621 | c.-8+ others(634): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64173518 | A | ACTTCTCC others(614): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0217 | 1 | 223 | 0.0045 | 621 | c.-99 others(638): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(614): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0082 | 1 | 362 | 0.0028 | 621 | c.-75 others(640): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(614): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0004 | a0001c0001t0005g0258a0001c0004t0004g0226 | 2 | 362 | 0.0055 | 621 | c.-75 others(640): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132150015 | T | TCATACCA others(614): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 294 | 0.0034 | 621 | c.902 others(636): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PANK4_chr1_2503537_2531596 | 2522791 | C | CTATAGTG others(614): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02615.hp1 others(11): Show |
a0001a0007 | a0001c0006a0001c0007a0007c0014 | a0001c0006t0001a0001c0007t0001a0007c0014t0002 | a0001c0006t0001g0013a0001c0006t0001g0057a0001c0006t0001g0058others(6): Show | 14 | 399 | 0.0351 | 621 | c.125 others(636): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
| PARP10_chr8_143972158_143991460 | 143981912 | A | ATGGTGGT others(614): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01257.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0021a0001c0001t0001g0088a0001c0001t0001g0089others(8): Show | 12 | 380 | 0.0316 | 621 | c.255 others(640): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(614): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG03239.hp1 HG03942.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210a0001c0001t0001g0225a0001c0001t0001g0238others(1): Show | 4 | 360 | 0.0111 | 621 | c.*36 others(632): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 977728 | A | ACCAACCC others(614): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02922.hp1 |
a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0232a0002c0005t0005g0233 | 2 | 408 | 0.0049 | 621 | c.215 others(640): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(614): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 376 | 0.0027 | 621 | c.*15 others(632): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(614): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 NA18971.hp1 NA19084.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002a0003c0003t0001g0151 | 4 | 376 | 0.0106 | 621 | c.*15 others(632): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(614): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01496.hp2 HG01515.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 4 | 376 | 0.0106 | 621 | c.*15 others(632): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(614): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0148 | 1 | 376 | 0.0027 | 621 | c.*15 others(632): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(614): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0020 | 1 | 376 | 0.0027 | 621 | c.*15 others(632): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
| PIAS4_chr19_4002736_4044386 | 4011956 | T | TGTGTGGG others(614): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0304 | 1 | 334 | 0.0030 | 621 | c.28- others(634): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PLEKHN1_chr1_961482_980865 | 977728 | A | ACCAACCC others(614): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0053 | a0001c0053t0010 | a0001c0053t0010g0035 | 1 | 422 | 0.0024 | 621 | c.*31 others(632): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1864 | chr1 | TogoVar | ||||||
| PLPP4_chr10_120452227_120597065 | 120530690 | T | TAAAAGTG others(614): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0315 | 1 | 328 | 0.0031 | 621 | c.445 others(638): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(614): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 188 | 0.0053 | 621 | c.147 others(638): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123307 | G | GGCTGTAG others(614): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 286 | 0.0035 | 621 | c.335 others(640): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(614): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02055.hp1 others(22): Show |
a0001a0003a0008 | a0001c0003a0003c0004a0003c0021others(1): Show | a0001c0003t0001a0003c0004t0001a0003c0021t0001others(1): Show | a0001c0003t0001g0007a0003c0004t0001g0005a0003c0004t0001g0024others(2): Show | 25 | 382 | 0.0655 | 621 | c.-25 others(632): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar | ||||||
| PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(614): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 HG02698.hp2 HG02970.hp2 |
a0008a0013 | a0008c0011a0013c0016 | a0008c0011t0001a0013c0016t0001 | a0008c0011t0001g0017a0008c0011t0001g0025a0013c0016t0001g0034 | 3 | 382 | 0.0079 | 621 | c.-25 others(632): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar | ||||||
| PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(614): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004a0001c0003t0001g0026 | 15 | 382 | 0.0393 | 621 | c.-25 others(632): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar | ||||||
| PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(614): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 252 | 0.0040 | 621 | c.139 others(640): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(614): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0235 | 1 | 252 | 0.0040 | 621 | c.139 others(640): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(614): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0205 | 1 | 252 | 0.0040 | 621 | c.139 others(640): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(614): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 252 | 0.0040 | 621 | c.139 others(640): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PTPRH_chr19_55176247_55214501 | 55207808 | T | TCCTGGGT others(614): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 378 | 0.0027 | 621 | c.52- others(634): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 492359 | G | GCTCTCCC others(614): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0103 | 1 | 295 | 0.0034 | 621 | c.126 others(640): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679129 | T | TATTTACA others(614): Show |
intron_variant | MODIFIER | NA19081.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265a0001c0001t0001g0280 | 2 | 308 | 0.0065 | 621 | c.-75 others(640): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 303860 | A | AGCAGTGA others(614): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 133 | 0.0075 | 621 | c.351 others(640): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934875 | C | CGGGGGGG others(614): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0273 | 1 | 434 | 0.0023 | 621 | c.843 others(636): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SART1_chr11_65956734_65985137 | 65971120 | T | TGAGGAGG others(614): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0122 | 1 | 384 | 0.0026 | 621 | c.157 others(640): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(614): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0239a0004c0008t0001g0240 | 2 | 290 | 0.0069 | 621 | c.464 others(634): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(614): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0144 | 1 | 189 | 0.0053 | 621 | c.198 others(640): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(614): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 324 | 0.0031 | 621 | c.115 others(638): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(614): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0024 | 1 | 150 | 0.0067 | 621 | c.77- others(638): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(614): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0141 | 1 | 158 | 0.0063 | 621 | c.22+ others(638): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SERINC2_chr1_31408213_31439678 | 31431994 | T | TAGGGTGG others(614): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0100 | 1 | 376 | 0.0027 | 621 | c.101 others(638): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(614): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 350 | 0.0029 | 621 | c.624 others(636): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar |