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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12212): Show |
stop_gained others(1): Show |
HIGH | HG02083.hp1 NA18952.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0077a0002c0004t0001g0096 | 2 | 444 | 0.0045 | 12219 | c.236 others(12226): Show |
p.Gln others(12230): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12212): Show |
stop_gained others(1): Show |
HIGH | NA18998.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0087 | 1 | 444 | 0.0023 | 12219 | c.236 others(12226): Show |
p.Gln others(12230): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CMKLR2_chr2_206170316_206218371 | 206176783 | C | CAGAGAGT others(5): Show |
disruptive_inframe_insertion | MODERATE | NA18941.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0117 | 1 | 322 | 0.0031 | 12 | c.453 others(19): Show |
p.Leu others(25): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2/2 | 557/2025 | 464/1068 | 155/355 | chr2 | TogoVar | ||
CNGA2_chrX_151729746_151750564 | 151738499 | A | AATGGTGT others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18974.hp1 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0034 | 1 | 336 | 0.0030 | 15 | c.17_ others(20): Show |
p.Ser others(26): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 2/7 | 256/3285 | 32/1995 | 11/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNGB1_chr16_57877340_57976128 | 57949370 | T | TTCC | disruptive_inframe_insertion | MODERATE | HG02280.hp2 HG02615.hp2 HG02717.hp2 others(5): Show |
a0006a0028a0029 | a0006c0081a0006c0082a0006c0083others(5): Show | a0006c0081t0021a0006c0082t0010a0006c0083t0043others(5): Show | a0006c0081t0021g0331a0006c0082t0010g0337a0006c0083t0043g0063others(5): Show | 8 | 360 | 0.0222 | 3 | c.110 others(12): Show |
p.Glu others(6): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 14/33 | 1180/5657 | 1103/3756 | 368/1251 | chr16 | TogoVar | ||
COL18A1_chr21_45400165_45518720 | 45505235 | A | AGGCCCCC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00639.hp2 HG01891.hp2 HG02451.hp1 others(11): Show |
a0004a0012a0014others(4): Show | a0004c0023a0004c0057a0004c0091others(9): Show | a0004c0023t0002a0004c0057t0002a0004c0091t0001others(9): Show | a0004c0023t0002g0138a0004c0023t0002g0163a0004c0057t0002g0035others(11): Show | 14 | 292 | 0.0480 | 9 | c.297 others(18): Show |
p.Pro others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 35/42 | 3045/5408 | 2979/4020 | 993/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
COL8A1_chr3_99633594_99804217 | 99795584 | C | CCCAGGCC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0031 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | 262 | 0.0191 | 9 | c.168 others(18): Show |
p.Gly others(22): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1897/5515 | 1698/2235 | 566/744 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
CPA1_chr7_130375494_130393108 | 130387793 | C | CCCTTTCT others(53): Show |
disruptive_inframe_insertion | MODERATE | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 434 | 0.0023 | 60 | c.109 others(69): Show |
p.Ser others(73): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 10/10 | 1118/1384 | 1091/1260 | 364/419 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
CPEB2_chr4_14997481_15075151 | 15003254 | A | AGCC | disruptive_inframe_insertion | MODERATE | HG01891.hp1 HG02723.hp1 NA19077.hp1 |
a0014a0019 | a0014c0018a0019c0023 | a0014c0018t0001a0019c0023t0001 | a0014c0018t0001g0106a0014c0018t0001g0107a0019c0023t0001g0105 | 3 | 288 | 0.0104 | 3 | c.594 others(10): Show |
p.Pro others(6): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 1/12 | 790/7069 | 597/3105 | 199/1034 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
CPEB2_chr4_14997481_15075151 | 15003254 | A | AGCCGCC | disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG00621.hp2 HG00673.hp1 others(57): Show |
a0002a0012a0020others(1): Show | a0002c0002a0002c0006a0002c0015others(5): Show | a0002c0002t0002a0002c0002t0014a0002c0002t0015others(9): Show | a0002c0002t0002g0005a0002c0002t0002g0006a0002c0002t0002g0019others(39): Show | 60 | 288 | 0.2083 | 6 | c.591 others(13): Show |
p.Pro others(13): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 1/12 | 790/7069 | 597/3105 | 199/1034 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
CPEB2_chr4_14997481_15075151 | 15003300 | C | CCCG | disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG00621.hp2 HG00673.hp1 others(57): Show |
a0002a0012a0020others(1): Show | a0002c0002a0002c0006a0002c0015others(5): Show | a0002c0002t0002a0002c0002t0014a0002c0002t0015others(9): Show | a0002c0002t0002g0005a0002c0002t0002g0006a0002c0002t0002g0019others(39): Show | 60 | 288 | 0.2083 | 3 | c.639 others(10): Show |
p.Pro others(6): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 1/12 | 835/7069 | 642/3105 | 214/1034 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
CPEB2_chr4_14997481_15075151 | 15003723 | G | GGGC | disruptive_inframe_insertion | MODERATE | HG00673.hp1 HG02622.hp2 NA18962.hp2 others(4): Show |
a0012a0013 | a0012c0011a0013c0019 | a0012c0011t0002a0013c0019t0001a0013c0019t0003 | a0012c0011t0002g0002a0012c0011t0002g0074a0013c0019t0001g0109others(1): Show | 7 | 288 | 0.0243 | 3 | c.106 others(12): Show |
p.Gly others(6): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 1/12 | 1264/7069 | 1071/3105 | 357/1034 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
CRACD_chr4_56044098_56335609 | 56314410 | C | CGGAGCGG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp2 HG02055.hp2 HG02258.hp2 others(5): Show |
a0009a0013a0014others(1): Show | a0009c0015a0009c0032a0013c0017others(2): Show | a0009c0015t0006a0009c0032t0006a0013c0017t0006others(2): Show | a0009c0015t0006g0058a0009c0015t0006g0116a0009c0032t0006g0174others(5): Show | 8 | 250 | 0.0320 | 9 | c.915 others(16): Show |
p.Arg others(22): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 8/11 | 1461/7044 | 924/3702 | 308/1233 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
CRACD_chr4_56044098_56335609 | 56314410 | C | CGGAGCGG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00609.hp2 HG00738.hp1 others(60): Show |
a0003a0005a0011others(2): Show | a0003c0002a0003c0007a0005c0005others(4): Show | a0003c0002t0002a0003c0002t0031a0003c0002t0035others(12): Show | a0003c0002t0002g0005a0003c0002t0002g0008a0003c0002t0002g0010others(60): Show | 63 | 250 | 0.2520 | 18 | c.923 others(25): Show |
p.Arg others(31): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 8/11 | 1461/7044 | 924/3702 | 308/1233 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
CRACD_chr4_56044098_56335609 | 56314410 | C | CGGAGCGG others(20): Show |
disruptive_inframe_insertion | MODERATE | NA20129.hp2 | a0020 | a0020c0025 | a0020c0025t0006 | a0020c0025t0006g0045 | 1 | 250 | 0.0040 | 27 | c.923 others(34): Show |
p.Arg others(40): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 8/11 | 1461/7044 | 924/3702 | 308/1233 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
CRAT_chr9_129089794_129115793 | 129097250 | C | CCGGTCGG others(8): Show |
disruptive_inframe_insertion others(1): Show |
MODERATE | NA18988.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0108 | 1 | 420 | 0.0024 | 15 | c.151 others(24): Show |
p.Arg others(28): Show |
CRAT | ENSG00000095321.18 | transcript | ENST00000318080.7 | protein_coding | 12/14 | 1810/2768 | 1526/1881 | 509/626 | chr9 | TogoVar | ||
CRCT1_chr1_152509482_152521008 | 152515514 | G | GGGGCTGC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG02015.hp2 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0001 | 1 | 432 | 0.0023 | 18 | c.132 others(25): Show |
p.Ser others(29): Show |
CRCT1 | ENSG00000169509.6 | transcript | ENST00000368790.4 | protein_coding | 2/2 | 243/718 | 150/300 | 50/99 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CSNKA2IP_chr3_88333456_88472594 | 88467224 | A | ACCT | disruptive_inframe_insertion | MODERATE | HG01243.hp1 HG02109.hp1 HG02257.hp1 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0001a0006c0008t0002 | a0006c0008t0001g0004a0006c0008t0001g0150a0006c0008t0001g0243others(2): Show | 5 | 386 | 0.0130 | 3 | c.188 others(12): Show |
p.Ser others(6): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2342/2695 | 1884/2205 | 628/734 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
CT45A9_chrX_135858418_135876812 | 135865942 | G | GCTGGGTG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG06807.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0009 | 1 | 13 | 0.0769 | 12 | c.189 others(19): Show |
p.Ser others(23): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/5 | 445/1368 | 200/570 | 67/189 | chrX | TogoVar | ||
CT47A3_chrX_120967746_120981068 | 120975519 | T | TTCC | disruptive_inframe_insertion | MODERATE | HG00140.hp1 | a0012 | a0012c0017 | a0012c0017t0008 | a0012c0017t0008g0036 | 1 | 201 | 0.0050 | 3 | c.288 others(10): Show |
p.Glu others(5): Show |
CT47A3 | ENSG00000236126.3 | transcript | ENST00000441330.3 | protein_coding | 1/3 | 549/1298 | 290/867 | 97/288 | chrX | TogoVar | ||
CT47A7_chrX_120948282_120961600 | 120955770 | G | GGCCTCCT others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 19 | 0.0526 | 18 | c.575 others(25): Show |
p.Ala others(31): Show |
CT47A7 | ENSG00000228517.3 | transcript | ENST00000434883.3 | protein_coding | 1/3 | 830/1294 | 575/867 | 192/288 | chrX | TogoVar | ||
CT47A7_chrX_120948282_120961600 | 120956055 | T | TTCC | disruptive_inframe_insertion | MODERATE | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 19 | 0.0526 | 3 | c.288 others(10): Show |
p.Glu others(5): Show |
CT47A7 | ENSG00000228517.3 | transcript | ENST00000434883.3 | protein_coding | 1/3 | 545/1294 | 290/867 | 97/288 | chrX | TogoVar | ||
CTBP2_chr10_124979317_125033071 | 125026590 | A | AGCCGCAG others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(58): Show |
a0003a0010a0018others(1): Show | a0003c0004a0003c0005a0003c0043others(3): Show | a0003c0004t0002a0003c0004t0005a0003c0004t0006others(32): Show | a0003c0004t0002g0004a0003c0004t0002g0248a0003c0004t0002g0252others(52): Show | 61 | 380 | 0.1605 | 21 | c.116 others(30): Show |
p.Ala others(34): Show |
CTBP2 | ENSG00000175029.17 | transcript | ENST00000309035.11 | protein_coding | 1/9 | 1481/8471 | 1169/2958 | 390/985 | chr10 | TogoVar | ||
CTDP1_chr18_79674803_79759503 | 79715187 | T | TGGA | disruptive_inframe_insertion | MODERATE | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(35): Show |
a0003a0014a0017 | a0003c0005a0003c0009a0003c0012others(3): Show | a0003c0005t0002a0003c0009t0002a0003c0012t0002others(3): Show | a0003c0005t0002g0005a0003c0005t0002g0006a0003c0005t0002g0007others(35): Show | 38 | 378 | 0.1005 | 3 | c.174 others(12): Show |
p.Glu others(6): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 8/13 | 1894/3744 | 1749/2886 | 583/961 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
CWC22_chr2_179939876_180012297 | 179954220 | A | AAAATTCC others(17): Show |
disruptive_inframe_insertion | MODERATE | NA19081.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0086 | 1 | 376 | 0.0027 | 24 | c.167 others(33): Show |
p.Asp others(36): Show |
CWC22 | ENSG00000163510.14 | transcript | ENST00000410053.8 | protein_coding | 16/20 | 2217/3524 | 1673/2727 | 558/908 | chr2 | TogoVar | ||
CYP2D6_chr22_42121499_42135810 | 42126667 | C | CGAGAAGC others(13703): Show |
stop_gained others(1): Show |
HIGH | NA18990.hp1 | a0016 | a0016c0042 | a0016c0042t0001 | a0016c0042t0001g0072 | 1 | 417 | 0.0024 | 13710 | c.140 others(13719): Show |
p.Ser others(13723): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 9/9 | 1419/1588 | 1400/1494 | 467/497 | chr22 | TogoVar | ||
CYP2D6_chr22_42121499_42135810 | 42126667 | C | CGAGAAGC others(13703): Show |
stop_gained others(1): Show |
HIGH | HG00609.hp2 | a0016 | a0016c0043 | a0016c0043t0001 | a0016c0043t0001g0073 | 1 | 417 | 0.0024 | 13710 | c.140 others(13719): Show |
p.Ser others(13723): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 9/9 | 1419/1588 | 1400/1494 | 467/497 | chr22 | TogoVar | ||
DACH1_chr13_71432966_71872204 | 71866566 | G | GGCC | disruptive_inframe_insertion | MODERATE | HG02145.hp2 HG02965.hp1 |
a0005 | a0005c0008 | a0005c0008t0001a0005c0008t0002 | a0005c0008t0001g0098a0005c0008t0002g0099 | 2 | 102 | 0.0196 | 3 | c.201 others(10): Show |
p.Ala others(5): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/11 | 638/5245 | 203/2121 | 68/706 | chr13 | TogoVar | ||
DACT2_chr6_168301904_168324777 | 168308554 | G | GCCCCTGC others(5): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp1 HG00544.hp2 HG01069.hp1 others(46): Show |
a0003a0005a0008others(3): Show | a0003c0004a0005c0007a0005c0040others(7): Show | a0003c0004t0004a0003c0004t0008a0005c0007t0004others(10): Show | a0003c0004t0004g0025a0003c0004t0004g0026a0003c0004t0004g0037others(34): Show | 49 | 476 | 0.1029 | 12 | c.119 others(21): Show |
p.Gly others(25): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 4/4 | 1346/2997 | 1202/2325 | 401/774 | chr6 | TogoVar | ||
DCAF8L2_chrX_27585344_27754942 | 27747269 | G | GGGA | disruptive_inframe_insertion | MODERATE | HG03139.hp1 HG03195.hp1 |
a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0113a0006c0018t0001g0169 | 2 | 262 | 0.0076 | 3 | c.384 others(10): Show |
p.Glu others(6): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 5/5 | 825/3485 | 387/1896 | 129/631 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DCAF8L2_chrX_27585344_27754942 | 27747279 | G | GGAGGAA | disruptive_inframe_insertion | MODERATE | HG03516.hp1 | a0017 | a0017c0022 | a0017c0022t0001 | a0017c0022t0001g0091 | 1 | 262 | 0.0038 | 6 | c.386 others(13): Show |
p.Glu others(13): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 5/5 | 825/3485 | 387/1896 | 129/631 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DCAF8L2_chrX_27585344_27754942 | 27747282 | A | AGAG | disruptive_inframe_insertion | MODERATE | HG00741.hp2 HG01074.hp1 HG01081.hp2 others(18): Show |
a0006a0014a0020others(1): Show | a0006c0006a0014c0014a0020c0030others(1): Show | a0006c0006t0001a0006c0006t0006a0014c0014t0001others(3): Show | a0006c0006t0001g0022a0006c0006t0001g0032a0006c0006t0001g0047others(18): Show | 21 | 262 | 0.0802 | 3 | c.432 others(10): Show |
p.Glu others(6): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 5/5 | 873/3485 | 435/1896 | 145/631 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DCAF8L2_chrX_27585344_27754942 | 27747282 | A | AGAGGAG | disruptive_inframe_insertion | MODERATE | HG01358.hp1 HG02723.hp1 HG06807.hp2 others(1): Show |
a0013a0017 | a0013c0013a0017c0021 | a0013c0013t0001a0017c0021t0003 | a0013c0013t0001g0023a0013c0013t0001g0090a0013c0013t0001g0203others(1): Show | 4 | 262 | 0.0153 | 6 | c.429 others(13): Show |
p.Glu others(13): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 5/5 | 873/3485 | 435/1896 | 145/631 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DCAF8L2_chrX_27585344_27754942 | 27747282 | A | AGAGGAGG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02109.hp2 HG02257.hp1 HG02258.hp1 others(6): Show |
a0008a0015 | a0008c0008a0015c0016 | a0008c0008t0001a0008c0008t0003a0015c0016t0001others(1): Show | a0008c0008t0001g0031a0008c0008t0003g0058a0008c0008t0003g0059others(6): Show | 9 | 262 | 0.0344 | 9 | c.426 others(16): Show |
p.Glu others(13): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 5/5 | 873/3485 | 435/1896 | 145/631 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DCBLD1_chr6_117477674_117554797 | 117540902 | A | ATCCCTCC others(23): Show |
disruptive_inframe_insertion | MODERATE | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 370 | 0.0027 | 30 | c.125 others(42): Show |
p.Val others(43): Show |
DCBLD1 | ENSG00000164465.19 | transcript | ENST00000338728.10 | protein_coding | 11/15 | 1374/3614 | 1266/2148 | 422/715 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
DCHS2_chr4_154226742_154496799 | 154237107 | A | AGTT | disruptive_inframe_insertion | MODERATE | HG02280.hp2 HG02922.hp2 |
a0050a0063 | a0050c0045a0063c0028 | a0050c0045t0001a0063c0028t0004 | a0050c0045t0001g0044a0063c0028t0004g0002 | 2 | 192 | 0.0104 | 3 | c.754 others(12): Show |
p.Thr others(7): Show |
DCHS2 | ENSG00000197410.14 | transcript | ENST00000357232.10 | protein_coding | 20/20 | 7988/13354 | 7544/10116 | 2515/3371 | chr4 | TogoVar | ||
DCLK2_chr4_150073445_150262438 | 150247556 | T | TCTACGGT others(41): Show |
disruptive_inframe_insertion others(1): Show |
MODERATE | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 116 | 0.0086 | 48 | c.177 others(60): Show |
p.Ser others(61): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 13/16 | 2364/4075 | 1781/2301 | 594/766 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
DCP1B_chr12_1941053_2009457 | 1953157 | T | TTGC | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0004a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(199): Show | 236 | 378 | 0.6243 | 3 | c.780 others(10): Show |
p.Gln others(6): Show |
DCP1B | ENSG00000151065.14 | transcript | ENST00000280665.11 | protein_coding | 7/9 | 808/2033 | 782/1854 | 261/617 | chr12 | TogoVar | ||
DCP1B_chr12_1941053_2009457 | 1953157 | T | TTGCTGC | disruptive_inframe_insertion | MODERATE | HG01255.hp1 HG04228.hp2 NA18944.hp2 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0053a0008c0009t0001g0075a0008c0009t0001g0076others(2): Show | 5 | 378 | 0.0132 | 6 | c.777 others(13): Show |
p.Gln others(13): Show |
DCP1B | ENSG00000151065.14 | transcript | ENST00000280665.11 | protein_coding | 7/9 | 808/2033 | 782/1854 | 261/617 | chr12 | TogoVar | ||
DDX10_chr11_108660069_108945927 | 108917907 | G | GTGATGA | disruptive_inframe_insertion | MODERATE | HG00738.hp1 HG01081.hp1 HG01099.hp2 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086a0002c0002t0001g0087a0002c0002t0001g0088others(21): Show | 24 | 320 | 0.0750 | 6 | c.236 others(15): Show |
p.Asp others(13): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 17/18 | 2451/3217 | 2366/2628 | 789/875 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DDX11_chr12_31068860_31109799 | 31089927 | A | AGGC | disruptive_inframe_insertion | MODERATE | HG02055.hp2 HG03098.hp2 HG03540.hp1 others(1): Show |
a0007 | a0007c0010 | a0007c0010t0006 | a0007c0010t0006g0025a0007c0010t0006g0145a0007c0010t0006g0147 | 4 | 418 | 0.0096 | 3 | c.923 others(10): Show |
p.Arg others(6): Show |
DDX11 | ENSG00000013573.17 | transcript | ENST00000542838.6 | protein_coding | 9/27 | 1162/3920 | 926/2721 | 309/906 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
DGCR6_chr22_18901320_18917088 | 18906696 | A | AGCGCCT | disruptive_inframe_insertion | MODERATE | HG02056.hp2 NA18970.hp1 NA18985.hp2 |
a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0012 | 3 | 413 | 0.0073 | 6 | c.249 others(13): Show |
p.Leu others(17): Show |
DGCR6 | ENSG00000183628.14 | transcript | ENST00000331444.12 | protein_coding | 2/5 | 310/1117 | 255/663 | 85/220 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
DHX29_chr5_55251055_55312694 | 55289358 | C | CTGAAGAA others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18997.hp2 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0261 | 1 | 340 | 0.0029 | 15 | c.977 others(22): Show |
p.Arg others(27): Show |
DHX29 | ENSG00000067248.11 | transcript | ENST00000251636.10 | protein_coding | 8/27 | 1098/4664 | 977/4110 | 326/1369 | chr5 | TogoVar | ||
DIAPH1_chr5_141510021_141624000 | 141573996 | T | TGGA | disruptive_inframe_insertion | MODERATE | HG01175.hp2 HG01257.hp2 HG01258.hp2 others(13): Show |
a0002a0007a0012 | a0002c0004a0002c0005a0007c0011others(1): Show | a0002c0004t0001a0002c0004t0003a0002c0005t0005others(2): Show | a0002c0004t0001g0061a0002c0004t0001g0071a0002c0004t0001g0072others(12): Show | 16 | 336 | 0.0476 | 3 | c.185 others(12): Show |
p.Pro others(6): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 16/28 | 1939/5735 | 1853/3819 | 618/1272 | chr5 | TogoVar | ||
DIAPH1_chr5_141510021_141624000 | 141573996 | T | TGGAGGA | disruptive_inframe_insertion | MODERATE | HG00544.hp1 HG01168.hp2 HG01169.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0278a0003c0003t0001g0279a0003c0003t0001g0280others(6): Show | 9 | 336 | 0.0268 | 6 | c.184 others(15): Show |
p.Pro others(13): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 16/28 | 1939/5735 | 1853/3819 | 618/1272 | chr5 | TogoVar | ||
DKC1_chrX_154757864_154782689 | 154776813 | C | CAAG | disruptive_inframe_insertion | MODERATE | HG00741.hp1 HG00741.hp2 HG03239.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0002a0002c0005t0001g0003 | 3 | 289 | 0.0104 | 3 | c.151 others(12): Show |
p.Lys others(6): Show |
DKC1 | ENSG00000130826.19 | transcript | ENST00000369550.10 | protein_coding | 15/15 | 1617/2469 | 1515/1545 | 505/514 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
DLG3_chrX_70439835_70510490 | 70451882 | C | CAGT | disruptive_inframe_insertion | MODERATE | NA18959.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 278 | 0.0036 | 3 | c.100 others(12): Show |
p.Ala others(16): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 7/19 | 1369/6042 | 1002/2454 | 334/817 | chrX | TogoVar | ||
DLX6_chr7_97000553_97016040 | 97006052 | G | GCAGCAGC others(17): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0003 | 1 | 408 | 0.0025 | 24 | c.105 others(31): Show |
p.Gln others(11): Show |
DLX6 | ENSG00000006377.11 | transcript | ENST00000518156.3 | protein_coding | 1/3 | 554/2300 | 129/882 | 43/293 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
DLX6_chr7_97000553_97016040 | 97006108 | A | AGCC | disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(41): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0010 | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(8): Show | a0002c0002t0002g0003a0002c0002t0003g0002a0002c0002t0005g0003others(8): Show | 44 | 408 | 0.1078 | 3 | c.158 others(10): Show |
p.Pro others(5): Show |
DLX6 | ENSG00000006377.11 | transcript | ENST00000518156.3 | protein_coding | 1/3 | 586/2300 | 161/882 | 54/293 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
DMKN_chr19_35492220_35518649 | 35511468 | A | ACCACTGC others(5): Show |
disruptive_inframe_insertion | MODERATE | HG01891.hp2 HG02735.hp1 |
a0030a0041 | a0030c0046a0041c0037 | a0030c0046t0001a0041c0037t0001 | a0030c0046t0001g0216a0041c0037t0001g0168 | 2 | 442 | 0.0045 | 12 | c.849 others(19): Show |
p.Gly others(25): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1034/1924 | 860/1431 | 287/476 | chr19 | TogoVar |