| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDZD4_chrX_153797166_153835544 | 153803925 | G | GC | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | 1 | c.175 others(5): Show |
p.His others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 2001/3761 | 1755/2328 | 585/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153803938 | G | GC | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | 1 | c.174 others(5): Show |
p.Gln others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1988/3761 | 1742/2328 | 581/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153803948 | C | CG | frameshift_variant | HIGH | NA19058.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0060 | 1 | 281 | 0.0036 | 1 | c.173 others(5): Show |
p.Arg others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1978/3761 | 1732/2328 | 578/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153804029 | C | CG | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | 1 | c.165 others(5): Show |
p.Arg others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1897/3761 | 1651/2328 | 551/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153804120 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp2 HG02056.hp1 others(6): Show |
a0002 | a0002c0003a0002c0007a0002c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0006others(5): Show | a0002c0003t0001g0122a0002c0003t0002g0153a0002c0003t0006g0198others(6): Show | 9 | 281 | 0.0320 | 1 | c.156 others(5): Show |
p.Ala others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1806/3761 | 1560/2328 | 520/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153804169 | G | GC | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | 1 | c.151 others(5): Show |
p.Asn others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1757/3761 | 1511/2328 | 504/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153804374 | ATGCAG | A | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | -5 | c.130 others(14): Show |
p.Cys others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1552/3761 | 1302/2328 | 434/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153804640 | C | CA | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | 1 | c.104 others(5): Show |
p.Gly others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1286/3761 | 1040/2328 | 347/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153804764 | T | TC | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | 1 | c.916 others(4): Show |
p.Asp others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1162/3761 | 916/2328 | 306/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153804875 | G | GC | frameshift_variant | HIGH | NA18988.hp1 | a0010 | a0010c0019 | a0010c0019t0003 | a0010c0019t0003g0050 | 1 | 281 | 0.0036 | 1 | c.805 others(4): Show |
p.Ala others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1051/3761 | 805/2328 | 269/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153805114 | A | AT | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | 1 | c.762 others(4): Show |
p.Ser others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 7/8 | 1008/3761 | 762/2328 | 254/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153805125 | C | CG | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | 1 | c.751 others(4): Show |
p.Arg others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 7/8 | 997/3761 | 751/2328 | 251/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153805154 | GC | G | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | -1 | c.722 others(4): Show |
p.Gly others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 7/8 | 968/3761 | 722/2328 | 241/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153806767 | TC | T | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | -1 | c.478 others(4): Show |
p.Glu others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 4/8 | 724/3761 | 478/2328 | 160/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153806809 | TC | T | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0012 | a0011c0011t0012g0094 | 1 | 281 | 0.0036 | -1 | c.436 others(4): Show |
p.Asp others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 4/8 | 682/3761 | 436/2328 | 146/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153807363 | TG | T | frameshift_variant | HIGH | NA18956.hp2 | a0012 | a0012c0010 | a0012c0010t0001 | a0012c0010t0001g0063 | 1 | 281 | 0.0036 | -1 | c.320 others(4): Show |
p.Pro others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 3/8 | 566/3761 | 320/2328 | 107/775 | chrX | TogoVar | ||
| PDZD4_chrX_153797166_153835544 | 153808480 | T | TC | frameshift_variant | HIGH | HG02080.hp2 HG04184.hp1 NA18947.hp2 others(1): Show |
a0004 | a0004c0006a0004c0020 | a0004c0006t0001a0004c0006t0017a0004c0020t0002 | a0004c0006t0001g0118a0004c0006t0001g0199a0004c0006t0017g0175others(1): Show | 4 | 281 | 0.0142 | 1 | c.175 others(4): Show |
p.Asp others(4): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 2/8 | 421/3761 | 175/2328 | 59/775 | chrX | TogoVar | ||
| PDZD7_chr10_101002679_101036129 | 101018969 | T | TGAGGATG others(37): Show |
frameshift_variant | HIGH | NA18979.hp2 | a0014 | a0014c0036 | a0014c0036t0001 | a0014c0036t0001g0235 | 1 | 432 | 0.0023 | 44 | c.113 others(53): Show |
p.Arg others(5): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 8/17 | 1398/4112 | 1176/3102 | 392/1033 | chr10 | TogoVar | ||
| PEA15_chr1_160200384_160220372 | 160211656 | G | GAGATCAC others(4): Show |
frameshift_variant | HIGH | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 1 | 372 | 0.0027 | 11 | c.113 others(18): Show |
p.Gly others(4): Show |
PEA15 | ENSG00000162734.13 | transcript | ENST00000360472.9 | protein_coding | 2/4 | 265/2420 | 124/393 | 42/130 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| PEAK3_chr19_2269631_2287175 | 2275867 | GGTGCTCC others(21): Show |
G | frameshift_variant | HIGH | HG03669.hp1 | a0007 | a0007c0012 | a0007c0012t0002 | a0007c0012t0002g0075 | 1 | 454 | 0.0022 | -28 | c.120 others(37): Show |
p.Gly others(5): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 4/4 | 1327/2564 | 1207/1422 | 403/473 | chr19 | TogoVar | ||
| PEAK3_chr19_2269631_2287175 | 2275876 | C | CG | frameshift_variant | HIGH | HG01496.hp1 HG02559.hp2 HG03098.hp1 others(3): Show |
a0000 | a0000c0006a0000c0007a0000c0019 | a0000c0006t0001a0000c0006t0006a0000c0007t0002others(2): Show | a0000c0006t0001g0122a0000c0006t0006g0104a0000c0006t0006g0108others(3): Show | 6 | 454 | 0.0132 | 1 | c.122 others(5): Show |
p.Arg others(5): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 4/4 | 1318/2564 | 1225/1422 | 409/473 | chr19 | TogoVar | ||
| PEAK3_chr19_2269631_2287175 | 2275878 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp2 HG02056.hp1 others(5): Show |
a0000 | a0000c0005a0000c0008 | a0000c0005t0001a0000c0005t0003a0000c0005t0005others(1): Show | a0000c0005t0001g0028a0000c0005t0001g0196a0000c0005t0003g0188others(3): Show | 8 | 454 | 0.0176 | 1 | c.122 others(5): Show |
p.Arg others(5): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 4/4 | 1316/2564 | 1223/1422 | 408/473 | chr19 | TogoVar | ||
| PEAK3_chr19_2269631_2287175 | 2275994 | A | AAGGCGTG others(123): Show |
frameshift_variant others(1): Show |
HIGH | HG02572.hp1 | a0006 | a0006c0011 | a0006c0011t0044 | a0006c0011t0044g0058 | 1 | 454 | 0.0022 | 130 | c.978 others(138): Show |
p.Leu others(5): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 4/4 | 1200/2564 | 1107/1422 | 369/473 | chr19 | TogoVar | ||
| PEAR1_chr1_156888718_156921429 | 156910280 | C | CTGTAGCA others(52): Show |
frameshift_variant | HIGH | NA19240.hp2 | a0018 | a0018c0055 | a0018c0055t0001 | a0018c0055t0001g0131 | 1 | 384 | 0.0026 | 59 | c.172 others(68): Show |
p.Cys others(5): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 14/23 | 1914/4874 | 1785/3114 | 595/1037 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| PEBP4_chr8_22708251_22932914 | 22713394 | GT | G | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(74): Show |
a0003a0004a0006others(5): Show | a0003c0003a0003c0011a0003c0013others(9): Show | a0003c0003t0003a0003c0003t0004a0003c0003t0010others(15): Show | a0003c0003t0003g0034a0003c0003t0003g0036a0003c0003t0003g0040others(74): Show | 77 | 278 | 0.2770 | -1 | c.659 others(4): Show |
p.Asn others(5): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 7/7 | 757/901 | 659/684 | 220/227 | chr8 | TogoVar | ||
| PELI3_chr11_66461905_66482337 | 66473752 | T | TGGCGGAC others(19): Show |
frameshift_variant | HIGH | NA18991.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0100 | 1 | 396 | 0.0025 | 26 | c.677 others(33): Show |
p.Asp others(5): Show |
PELI3 | ENSG00000174516.15 | transcript | ENST00000320740.12 | protein_coding | 7/8 | 802/2704 | 678/1410 | 226/469 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| PER1_chr17_8135472_8157404 | 8147684 | TGTGGCGG others(10): Show |
T | frameshift_variant | HIGH | NA18972.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0120 | 1 | 426 | 0.0024 | -17 | c.136 others(26): Show |
p.Phe others(5): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 11/23 | 1584/4676 | 1361/3873 | 454/1290 | chr17 | TogoVar | ||
| PERCC1_chr16_1426078_1439441 | 1432886 | GGCGGTAC others(10): Show |
G | frameshift_variant | HIGH | HG02572.hp2 | a0011 | a0011c0017 | a0011c0017t0010 | a0011c0017t0010g0002 | 1 | 378 | 0.0027 | -17 | c.294 others(24): Show |
p.Arg others(4): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 372/1926 | 294/804 | 98/267 | chr16 | TogoVar | ||
| PERCC1_chr16_1426078_1439441 | 1432981 | T | TCTCAACA others(3): Show |
frameshift_variant | HIGH | HG02572.hp2 | a0011 | a0011c0017 | a0011c0017t0010 | a0011c0017t0010g0002 | 1 | 378 | 0.0027 | 10 | c.388 others(17): Show |
p.Tyr others(5): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 467/1926 | 389/804 | 130/267 | chr16 | TogoVar | ||
| PERCC1_chr16_1426078_1439441 | 1433021 | T | TCTCAACA others(9): Show |
frameshift_variant | HIGH | HG02572.hp2 | a0011 | a0011c0017 | a0011c0017t0010 | a0011c0017t0010g0002 | 1 | 378 | 0.0027 | 16 | c.428 others(23): Show |
p.Glu others(5): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 507/1926 | 429/804 | 143/267 | chr16 | TogoVar | ||
| PEX11G_chr19_7471875_7494035 | 7477288 | C | CTA | frameshift_variant | HIGH | HG02895.hp1 HG02897.hp1 HG02976.hp1 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0024a0004c0006t0001g0117a0004c0006t0001g0118 | 5 | 416 | 0.0120 | 2 | c.638 others(9): Show |
p.Val others(5): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 5/5 | 664/1078 | 639/726 | 213/241 | chr19 | TogoVar | ||
| PEX6_chr6_42958865_42984181 | 42978553 | C | CCTCCCAG others(4): Show |
frameshift_variant | HIGH | NA19077.hp1 | a0019 | a0019c0025 | a0019c0025t0002 | a0019c0025t0002g0159 | 1 | 378 | 0.0027 | 11 | c.597 others(18): Show |
p.Gly others(5): Show |
PEX6 | ENSG00000124587.14 | transcript | ENST00000304611.13 | protein_coding | 1/17 | 628/3444 | 597/2943 | 199/980 | chr6 | TogoVar | ||
| PFKFB1_chrX_54927961_54999188 | 54945540 | C | CG | frameshift_variant others(1): Show |
HIGH | NA19058.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0128 | 1 | 222 | 0.0045 | 1 | c.996 others(8): Show |
p.Val others(5): Show |
PFKFB1 | ENSG00000158571.11 | transcript | ENST00000375006.8 | protein_coding | 10/14 | 1177/2039 | 996/1416 | 332/471 | chrX | TogoVar | ||
| PFKFB1_chrX_54927961_54999188 | 54958330 | AG | A | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 222 | 0.0045 | -1 | c.491 others(4): Show |
p.Pro others(5): Show |
PFKFB1 | ENSG00000158571.11 | transcript | ENST00000375006.8 | protein_coding | 6/14 | 672/2039 | 491/1416 | 164/471 | chrX | TogoVar | ||
| PFKFB1_chrX_54927961_54999188 | 54963302 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 222 | 0.0045 | -1 | c.177 others(4): Show |
p.Thr others(4): Show |
PFKFB1 | ENSG00000158571.11 | transcript | ENST00000375006.8 | protein_coding | 2/14 | 358/2039 | 177/1416 | 59/471 | chrX | TogoVar | ||
| PGA4_chr11_61217347_61236694 | 61226513 | A | ATGAGTCT others(18727): Show |
frameshift_variant others(1): Show |
HIGH | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 304 | 0.0033 | 18734 | c.741 others(18741): Show |
p.Val others(5): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 6/9 | 796/1384 | 742/1167 | 248/388 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| PGAM4_chrX_77962949_77974638 | 77969285 | G | GA | frameshift_variant | HIGH | NA18968.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0000 | 1 | 320 | 0.0031 | 1 | c.353 others(8): Show |
p.Tyr others(5): Show |
PGAM4 | ENSG00000226784.3 | transcript | ENST00000458128.3 | protein_coding | 1/1 | 353/1690 | 353/765 | 118/254 | chrX | TogoVar | ||
| PGAP3_chr17_39666122_39693057 | 39685945 | T | TGGGGGGG others(40): Show |
frameshift_variant | HIGH | HG00609.hp1 | a0008 | a0008c0005 | a0008c0005t0001 | a0008c0005t0001g0122 | 1 | 376 | 0.0027 | 47 | c.255 others(54): Show |
p.Lys others(4): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 2/8 | 298/2687 | 255/963 | 85/320 | chr17 | TogoVar | ||
| PGAP6_chr16_365788_386978 | 381807 | GCCAGCCC others(3): Show |
G | frameshift_variant | HIGH | HG02132.hp1 | a0005 | a0005c0012 | a0005c0012t0023 | a0005c0012t0023g0176 | 1 | 376 | 0.0027 | -10 | c.5_1 others(14): Show |
p.Gly others(3): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/13 | 171/3672 | 5/2316 | 2/771 | chr16 | TogoVar | ||
| PGC_chr6_41731711_41752397 | 41742456 | C | CGAACTCC others(3): Show |
frameshift_variant | HIGH | HG01070.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0088 | 1 | 464 | 0.0022 | 10 | c.471 others(17): Show |
p.Gly others(5): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 5/9 | 543/1371 | 480/1167 | 160/388 | chr6 | TogoVar | ||
| PGK1_chrX_78099248_78134295 | 78122940 | C | CA | frameshift_variant | HIGH | NA18961.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0087 | 1 | 308 | 0.0033 | 1 | c.749 others(4): Show |
p.Asn others(5): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 7/11 | 843/4812 | 750/1254 | 250/417 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PGK1_chrX_78099248_78134295 | 78123249 | T | TC | frameshift_variant | HIGH | NA18961.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0087 | 1 | 308 | 0.0033 | 1 | c.813 others(4): Show |
p.Lys others(5): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 8/11 | 907/4812 | 814/1254 | 272/417 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PGK1_chrX_78099248_78134295 | 78123263 | GA | G | frameshift_variant | HIGH | NA18961.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0087 | 1 | 308 | 0.0033 | -1 | c.827 others(4): Show |
p.Asn others(5): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 8/11 | 920/4812 | 827/1254 | 276/417 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PGK1_chrX_78099248_78134295 | 78123269 | T | TC | frameshift_variant | HIGH | NA18961.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0087 | 1 | 308 | 0.0033 | 1 | c.831 others(8): Show |
p.Val others(5): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 8/11 | 925/4812 | 832/1254 | 278/417 | chrX | TogoVar | ||
| PGK1_chrX_78099248_78134295 | 78125030 | AG | A | frameshift_variant | HIGH | NA18961.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0087 | 1 | 308 | 0.0033 | -1 | c.109 others(5): Show |
p.Gly others(5): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 9/11 | 1190/4812 | 1097/1254 | 366/417 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PGLYRP2_chr19_15463645_15484501 | 15475733 | C | CTGGGTCT others(21): Show |
frameshift_variant | HIGH | NA18979.hp2 | a0019 | a0019c0018 | a0019c0018t0001 | a0019c0018t0001g0248 | 1 | 382 | 0.0026 | 28 | c.909 others(35): Show |
p.Gly others(5): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/5 | 1066/1879 | 936/1731 | 312/576 | chr19 | TogoVar | ||
| PGM2_chr4_37821686_37867937 | 37844412 | TGGGGTGG others(28): Show |
T | frameshift_variant | HIGH | NA19076.hp2 | a0006 | a0006c0017 | a0006c0017t0005 | a0006c0017t0005g0272 | 1 | 446 | 0.0022 | -35 | c.771 others(42): Show |
p.Val others(5): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 7/14 | 818/3211 | 771/1839 | 257/612 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(166): Show |
a0000 | a0000c0002a0000c0005a0000c0010 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(16): Show | a0000c0002t0001g0001a0000c0002t0001g0003a0000c0002t0001g0004others(162): Show | 169 | 398 | 0.4246 | 1 | c.331 others(4): Show |
p.Val others(5): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 5/5 | 1134/1481 | 331/429 | 111/142 | chr15 | TogoVar | ||
| PGRMC1_chrX_119231285_119249466 | 119243194 | GC | G | frameshift_variant | HIGH | NA18985.hp1 | a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0021 | 1 | 264 | 0.0038 | -1 | c.531 others(4): Show |
p.Thr others(5): Show |
PGRMC1 | ENSG00000101856.10 | transcript | ENST00000217971.8 | protein_coding | 3/3 | 610/1879 | 531/588 | 177/195 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PGR_chr11_101024624_101134813 | 101127900 | CCTCCTCC others(27): Show |
C | frameshift_variant | HIGH | HG01069.hp1 | a0009 | a0009c0022 | a0009c0022t0002 | a0009c0022t0002g0208 | 1 | 254 | 0.0039 | -34 | c.113 others(43): Show |
p.Asp others(5): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 1/8 | 1913/13037 | 1137/2802 | 379/933 | chr11 | TogoVar |