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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(3017): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 259 | 0.0039 | 3024 | c.129 others(3043): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3017): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02896.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 5 | 66 | 0.0758 | 3024 | c.*24 others(3035): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3017): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 62 | 0.0161 | 3024 | c.*24 others(3035): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3017): Show |
downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 62 | 0.0161 | 3024 | c.*24 others(3035): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(3017): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0322 | 1 | 282 | 0.0035 | 3024 | c.265 others(3045): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162352707 | A | ACATCGCT others(3017): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0181 | 1 | 179 | 0.0056 | 3024 | c.596 others(3041): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432002 | A | ATAGGGTG others(3017): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0153 | 1 | 350 | 0.0029 | 3024 | c.101 others(3041): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(3017): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0018 | 1 | 184 | 0.0054 | 3024 | c.101 others(3041): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(3017): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0042 | 1 | 160 | 0.0063 | 3024 | c.101 others(3041): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3017): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02280.hp2 others(3): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0002a0001c0001t0010a0009c0010t0010 | a0001c0001t0002g0103 a0001c0001t0002g0182 a0001c0001t0002g0229 others(3): Show |
6 | 54 | 0.1111 | 3024 | c.192 others(3043): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3017): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01069.hp1 others(60): Show |
a0001a0003a0007 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(5): Show | a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0046 others(60): Show |
63 | 111 | 0.5676 | 3024 | c.192 others(3043): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3017): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03139.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0335 a0003c0003t0002g0148 |
2 | 50 | 0.0400 | 3024 | c.192 others(3043): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3017): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 49 | 0.0204 | 3024 | c.192 others(3043): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3017): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0128 | 1 | 49 | 0.0204 | 3024 | c.192 others(3043): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3017): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0155 | 1 | 20 | 0.0500 | 3024 | c.206 others(3043): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3017): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0044 | 1 | 19 | 0.0526 | 3024 | c.389 others(3043): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3018): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 76 | 0.0132 | 3025 | c.955 others(3042): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3018): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0252 | 1 | 8 | 0.1250 | 3025 | c.400 others(3044): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3018): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0020 | 1 | 8 | 0.1250 | 3025 | c.400 others(3044): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3018): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 62 | 0.0161 | 3025 | c.*24 others(3036): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3018): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 62 | 0.0161 | 3025 | c.*24 others(3036): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3018): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02976.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0037 | 2 | 63 | 0.0317 | 3025 | c.*24 others(3036): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3018): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 62 | 0.0161 | 3025 | c.*24 others(3036): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3018): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 2 | 63 | 0.0317 | 3025 | c.*24 others(3036): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162352707 | A | ACATCGCT others(3018): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0180 | 1 | 179 | 0.0056 | 3025 | c.596 others(3042): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TACCCTCC others(3018): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0105 | 1 | 149 | 0.0067 | 3025 | c.773 others(3040): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3018): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0262 | 1 | 34 | 0.0294 | 3025 | c.299 others(3040): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3018): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 7 | 0.1429 | 3025 | c.*27 others(3036): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3018): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 49 | 0.0204 | 3025 | c.192 others(3044): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3018): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01433.hp1 HG03688.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0002a0001c0008t0002a0003c0003t0002 | a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0053 others(6): Show |
9 | 57 | 0.1579 | 3025 | c.192 others(3044): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3018): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0185 a0001c0001t0010g0345 |
2 | 50 | 0.0400 | 3025 | c.192 others(3044): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(3019): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0103 | 1 | 30 | 0.0333 | 3026 | c.445 others(3041): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3019): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 129 | 0.0078 | 3026 | c.280 others(3047): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949682 | G | GATCTTTT others(3019): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0004 | 1 | 178 | 0.0056 | 3026 | c.280 others(3047): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3019): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0119 | 1 | 4 | 0.2500 | 3026 | c.115 others(3045): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3019): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0085 | 1 | 8 | 0.1250 | 3026 | c.400 others(3045): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3019): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0077 | 1 | 8 | 0.1250 | 3026 | c.400 others(3045): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3019): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0089 | 1 | 8 | 0.1250 | 3026 | c.400 others(3045): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3019): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0184 | 1 | 8 | 0.1250 | 3026 | c.400 others(3045): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CTCTCCCC others(3019): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0116 | 1 | 8 | 0.1250 | 3026 | c.400 others(3045): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | chr2 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(3019): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0016 | a0001c0016t0040 | a0001c0016t0040g0048 | 1 | 248 | 0.0040 | 3026 | c.157 others(3041): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3019): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 233 | 0.0043 | 3026 | c.-91 others(3047): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3019): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 233 | 0.0043 | 3026 | c.-91 others(3047): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949681 | T | TGATCTTT others(3019): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 297 | 0.0034 | 3026 | c.-91 others(3047): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949682 | G | GATCTTTT others(3019): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0302 | 1 | 311 | 0.0032 | 3026 | c.-91 others(3047): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3019): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 62 | 0.0161 | 3026 | c.*24 others(3037): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3019): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0107 | 1 | 62 | 0.0161 | 3026 | c.*24 others(3037): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397547 | A | AGGGGGGC others(3019): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0098 | 1 | 181 | 0.0055 | 3026 | c.227 others(3043): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3019): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 49 | 0.0204 | 3026 | c.192 others(3045): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(3019): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02486.hp1 HG03098.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002a0003c0003t0010 | a0001c0001t0002g0215 a0003c0003t0002g0097 a0003c0003t0002g0250 others(1): Show |
4 | 52 | 0.0769 | 3026 | c.192 others(3045): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar |