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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APLP2_chr11_130064894_130149805 | 130121757 | TGAAGAG | T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG01109.hp2 HG01243.hp1 others(21): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0082 others(20): Show |
24 | 272 | 0.0882 | -6 | c.678 others(13): Show |
p.Glu others(13): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 5/17 | 762/3697 | 678/2256 | 226/751 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
APOBEC3D_chr22_39016127_39038277 | 39025104 | GCTT | G | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01081.hp1 HG01099.hp1 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0010 | a0004c0004t0001g0173 a0004c0004t0001g0175 a0004c0004t0010g0172 |
3 | 456 | 0.0066 | -3 | c.249 others(10): Show |
p.Phe others(5): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 3/7 | 642/2515 | 249/1161 | 83/386 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
APOBEC3H_chr22_39092244_39109067 | 39100317 | TAAC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show |
a0003a0004 | a0003c0003a0003c0006a0004c0004others(3): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0004others(8): Show | a0003c0003t0002g0003 a0003c0003t0002g0008 a0003c0003t0002g0010 others(43): Show |
129 | 416 | 0.3101 | -3 | c.45_ others(8): Show |
p.Asn others(5): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 2/5 | 152/1029 | 45/552 | 15/183 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
APOBR_chr16_28489643_28503964 | 28495952 | TCTCAGGC others(20): Show |
T | disruptive_inframe_deletion | MODERATE | HG02055.hp2 HG02486.hp1 HG02572.hp2 others(2): Show |
a0014a0019a0025others(1): Show | a0014c0019a0019c0026a0025c0027others(1): Show | a0014c0019t0001a0019c0026t0002a0025c0027t0002others(1): Show | a0014c0019t0001g0001 a0019c0026t0002g0001 a0025c0027t0002g0001 others(1): Show |
5 | 404 | 0.0124 | -27 | c.933 others(34): Show |
p.Thr others(13): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 972/3792 | 933/3294 | 311/1097 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
APOBR_chr16_28489643_28503964 | 28495974 | GACAGCCT others(20): Show |
G | disruptive_inframe_deletion | MODERATE | NA18961.hp2 NA18962.hp1 NA18963.hp1 others(13): Show |
a0001a0006a0015others(1): Show | a0001c0003a0006c0008a0006c0038others(2): Show | a0001c0003t0001a0006c0008t0002a0006c0038t0002others(2): Show | a0001c0003t0001g0001 a0006c0008t0002g0001 a0006c0038t0002g0001 others(3): Show |
16 | 404 | 0.0396 | -27 | c.957 others(34): Show |
p.Glu others(13): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 996/3792 | 957/3294 | 319/1097 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
APOBR_chr16_28489643_28503964 | 28496076 | TGGGACAG others(20): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(104): Show |
a0002a0003a0009others(2): Show | a0002c0002a0002c0015a0002c0016others(14): Show | a0002c0002t0001a0002c0002t0004a0002c0015t0001others(15): Show | a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0004g0001 others(17): Show |
107 | 384 | 0.2786 | -27 | c.108 others(36): Show |
p.Glu others(13): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 1122/3792 | 1083/3294 | 361/1097 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
APOBR_chr16_28489643_28503964 | 28496093 | GGGA | G | disruptive_inframe_deletion | MODERATE | HG01106.hp2 HG01891.hp1 HG02257.hp1 others(17): Show |
a0005a0011a0013others(1): Show | a0005c0009a0005c0054a0011c0017others(3): Show | a0005c0009t0001a0005c0054t0001a0011c0017t0001others(3): Show | a0005c0009t0001g0001 a0005c0054t0001g0001 a0011c0017t0001g0001 others(3): Show |
20 | 404 | 0.0495 | -3 | c.105 others(12): Show |
p.Glu others(6): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 1097/3792 | 1058/3294 | 353/1097 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
APOB_chr2_20996429_21049073 | 21043902 | GGCAGCGC others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00323.hp2 HG00733.hp1 others(81): Show |
a0002a0007a0009others(2): Show | a0002c0002a0002c0012a0002c0016others(30): Show | a0002c0002t0001a0002c0012t0001a0002c0012t0003others(31): Show | a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0013 others(56): Show |
84 | 348 | 0.2414 | -9 | c.35_ others(14): Show |
p.Leu others(11): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 1/29 | 171/14121 | 35/13692 | 12/4563 | chr2 | TogoVar | |||
APOH_chr17_66207033_66234415 | 66226121 | CTGGCTGT others(17): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG01069.hp2 | a0010 | a0010c0017 | a0010c0017t0002 | a0010c0017t0002g0116 | 1 | 384 | 0.0026 | -24 | c.242 others(34): Show |
p.Pro others(5): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/8 | 280/1174 | 242/1038 | 81/345 | chr17 | TogoVar | |||
APOL1_chr22_36248133_36272525 | 36265995 | AATAATT | A | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02258.hp2 HG02572.hp2 others(8): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0007 | a0005c0005t0001g0136 a0005c0005t0007g0013 a0005c0005t0007g0048 others(3): Show |
11 | 412 | 0.0267 | -6 | c.116 others(15): Show |
p.Asn others(13): Show |
APOL1 | ENSG00000100342.22 | transcript | ENST00000397278.8 | protein_coding | 6/6 | 1270/2795 | 1164/1197 | 388/398 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
APOL5_chr22_35712872_35734483 | 35726258 | TCAACTGT others(44): Show |
T | stop_gained others(1): Show |
HIGH | HG01261.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0003 | 1 | 400 | 0.0025 | -51 | c.191 others(58): Show |
p.Ser others(17): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 3/5 | 191/1438 | 191/1302 | 64/433 | chr22 | TogoVar | |||
ARHGAP33_chr19_35770564_35793822 | 35786630 | TGGTGATG others(41): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 | a0007 | a0007c0032 | a0007c0032t0001 | a0007c0032t0001g0012 | 1 | 418 | 0.0024 | -48 | c.216 others(57): Show |
p.Asp others(13): Show |
ARHGAP33 | ENSG00000004777.19 | transcript | ENST00000007510.9 | protein_coding | 20/21 | 2258/4352 | 2163/3864 | 721/1287 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ARHGEF1_chr19_41878184_41912452 | 41903765 | CTATGCTG others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG00738.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0089 | 1 | 232 | 0.0043 | -15 | c.189 others(24): Show |
p.Met others(13): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 20/29 | 2024/3229 | 1899/2739 | 633/912 | chr19 | TogoVar | |||
ARHGEF40_chr14_21065304_21095248 | 21074796 | AGAGGAG | A | disruptive_inframe_deletion | MODERATE | HG02109.hp2 HG02258.hp2 HG02965.hp1 others(2): Show |
a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0016 | 5 | 384 | 0.0130 | -6 | c.108 others(15): Show |
p.Gly others(13): Show |
ARHGEF40 | ENSG00000165801.10 | transcript | ENST00000298694.9 | protein_coding | 3/24 | 1173/5893 | 1080/4560 | 360/1519 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
ARID3A_chr19_921035_980939 | 971929 | AAGG | A | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(186): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(145): Show | a0001c0001t0002g0016 a0001c0001t0002g0129 a0001c0001t0002g0133 others(186): Show |
189 | 362 | 0.5221 | -3 | c.165 others(12): Show |
p.Gly others(6): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 9/9 | 1942/5948 | 1650/1782 | 550/593 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ARID4B_chr1_235161902_235333179 | 235213963 | TTCC | T | disruptive_inframe_deletion | MODERATE | HG00621.hp1 HG01109.hp2 HG01884.hp2 others(9): Show |
a0003a0007 | a0003c0005a0003c0006a0007c0014 | a0003c0005t0001a0003c0005t0002a0003c0006t0001others(1): Show | a0003c0005t0001g0001 a0003c0005t0001g0002 a0003c0005t0001g0003 others(9): Show |
12 | 270 | 0.0444 | -3 | c.164 others(12): Show |
p.Glu others(6): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 17/24 | 2106/6022 | 1644/3939 | 548/1312 | chr1 | TogoVar | |||
ARK2N_chr18_46169034_46271992 | 46253735 | TCTG | T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(103): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0017a0002c0002t0022others(2): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(99): Show |
106 | 318 | 0.3333 | -3 | c.941 others(10): Show |
p.Ala others(6): Show |
ARK2N | ENSG00000152242.11 | transcript | ENST00000615052.5 | protein_coding | 4/5 | 1308/5456 | 941/1215 | 314/404 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
ARL9_chr4_56500791_56529453 | 56506029 | AGAG | A | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG02055.hp2 HG02109.hp1 others(8): Show |
a0005 | a0005c0005a0005c0015 | a0005c0005t0001a0005c0015t0007 | a0005c0005t0001g0025 a0005c0005t0001g0059 a0005c0005t0001g0061 others(7): Show |
11 | 414 | 0.0266 | -3 | c.170 others(10): Show |
p.Arg others(5): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 1/4 | 242/1447 | 170/798 | 57/265 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ARMCX2_chrX_101650281_101664850 | 101656879 | TCTGCAGC others(11): Show |
T | disruptive_inframe_deletion | MODERATE | NA19000.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0020 | 1 | 332 | 0.0030 | -18 | c.692 others(25): Show |
p.Ala others(13): Show |
ARMCX2 | ENSG00000184867.14 | transcript | ENST00000356824.9 | protein_coding | 6/6 | 1220/2819 | 692/1899 | 231/632 | chrX | TogoVar | |||
AR_chrX_67539021_67735619 | 67545316 | TGCA | T | disruptive_inframe_deletion | MODERATE | HG00642.hp1 HG00738.hp1 HG01109.hp1 others(32): Show |
a0001a0016 | a0001c0001a0001c0009a0001c0026others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0079 others(31): Show |
35 | 59 | 0.5932 | -3 | c.237 others(10): Show |
p.Gln others(5): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1363/10667 | 237/2763 | 79/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCA | T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG01074.hp1 HG01106.hp1 others(15): Show |
a0005 | a0005c0006a0005c0011 | a0005c0006t0001a0005c0006t0003a0005c0006t0008others(13): Show | a0005c0006t0001g0129 a0005c0006t0003g0003 a0005c0006t0008g0122 others(15): Show |
18 | 42 | 0.4286 | -6 | c.234 others(13): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1360/10667 | 234/2763 | 78/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01081.hp2 HG01255.hp1 others(10): Show |
a0007 | a0007c0008a0007c0016a0007c0025 | a0007c0008t0005a0007c0008t0006a0007c0008t0018others(7): Show | a0007c0008t0005g0142 a0007c0008t0005g0160 a0007c0008t0006g0136 others(10): Show |
13 | 37 | 0.3514 | -9 | c.231 others(16): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1357/10667 | 231/2763 | 77/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00735.hp2 others(8): Show |
a0008 | a0008c0007a0008c0017 | a0008c0007t0006a0008c0007t0010a0008c0007t0011others(4): Show | a0008c0007t0006g0133 a0008c0007t0006g0140 a0008c0007t0006g0150 others(8): Show |
11 | 35 | 0.3143 | -12 | c.228 others(19): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1354/10667 | 228/2763 | 76/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG02647.hp1 HG02896.hp1 HG02965.hp1 others(8): Show |
a0009a0017 | a0009c0012a0009c0015a0017c0024 | a0009c0012t0005a0009c0012t0024a0009c0012t0037others(6): Show | a0009c0012t0005g0144 a0009c0012t0005g0145 a0009c0012t0005g0147 others(8): Show |
11 | 35 | 0.3143 | -15 | c.225 others(22): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1351/10667 | 225/2763 | 75/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG02895.hp1 NA20300.hp2 |
a0015 | a0015c0022a0015c0023 | a0015c0022t0004a0015c0023t0008 | a0015c0022t0004g0112 a0015c0023t0008g0180 |
2 | 26 | 0.0769 | -18 | c.222 others(25): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1348/10667 | 222/2763 | 74/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG02135.hp1 NA18960.hp1 |
a0014 | a0014c0020 | a0014c0020t0001a0014c0020t0003 | a0014c0020t0001g0002 a0014c0020t0003g0073 |
2 | 26 | 0.0769 | -21 | c.219 others(28): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1345/10667 | 219/2763 | 73/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(17): Show |
T | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02886.hp1 |
a0013 | a0013c0019 | a0013c0019t0016a0013c0019t0029 | a0013c0019t0016g0125 a0013c0019t0029g0152 |
2 | 26 | 0.0769 | -24 | c.216 others(31): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1342/10667 | 216/2763 | 72/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(20): Show |
T | disruptive_inframe_deletion | MODERATE | HG01167.hp1 HG01169.hp2 |
a0012 | a0012c0018 | a0012c0018t0011 | a0012c0018t0011g0019 a0012c0018t0011g0134 |
2 | 26 | 0.0769 | -27 | c.213 others(34): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1339/10667 | 213/2763 | 71/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGC | T | disruptive_inframe_deletion | MODERATE | HG00673.hp1 HG01891.hp2 HG02040.hp1 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0026others(15): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0019others(25): Show | a0001c0001t0004g0186 a0001c0001t0014g0179 a0001c0001t0019g0175 others(30): Show |
33 | 113 | 0.2920 | -3 | c.141 others(12): Show |
p.Gly others(6): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2544/10667 | 1418/2763 | 473/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGC | T | disruptive_inframe_deletion | MODERATE | HG00735.hp2 HG02451.hp2 HG02615.hp1 others(8): Show |
a0001a0002a0004others(5): Show | a0001c0009a0002c0010a0004c0032others(5): Show | a0001c0009t0033a0002c0010t0008a0002c0010t0018others(8): Show | a0001c0009t0033g0138 a0002c0010t0008g0156 a0002c0010t0018g0165 others(8): Show |
11 | 91 | 0.1209 | -6 | c.141 others(15): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2541/10667 | 1415/2763 | 472/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG02451.hp1 HG02486.hp1 others(5): Show |
a0002a0004a0007others(2): Show | a0002c0010a0004c0004a0007c0008others(3): Show | a0002c0010t0035a0002c0010t0036a0004c0004t0001others(5): Show | a0002c0010t0035g0151 a0002c0010t0036g0119 a0004c0004t0001g0042 others(5): Show |
8 | 88 | 0.0909 | -9 | c.141 others(18): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2538/10667 | 1412/2763 | 471/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01358.hp1 HG01433.hp1 NA18953.hp1 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0005a0003c0002a0004c0004others(1): Show | a0002c0005t0007a0003c0002t0001a0004c0004t0047others(1): Show | a0002c0005t0007g0010 a0002c0005t0007g0011 a0003c0002t0001g0023 others(2): Show |
5 | 85 | 0.0588 | -12 | c.140 others(21): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2535/10667 | 1409/2763 | 470/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 NA19085.hp1 NA19088.hp1 others(1): Show |
a0002a0004a0005 | a0002c0005a0004c0004a0005c0006 | a0002c0005t0015a0002c0005t0044a0004c0004t0048others(1): Show | a0002c0005t0015g0088 a0002c0005t0044g0181 a0004c0004t0048g0087 others(1): Show |
4 | 84 | 0.0476 | -15 | c.140 others(24): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2532/10667 | 1406/2763 | 469/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG03704.hp2 | a0007 | a0007c0016 | a0007c0016t0022 | a0007c0016t0022g0043 | 1 | 81 | 0.0123 | -18 | c.140 others(27): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2529/10667 | 1403/2763 | 468/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
AR_chrX_67539021_67735619 | 67546514 | TGGCGGCG others(23): Show |
T | disruptive_inframe_deletion | MODERATE | HG01255.hp1 | a0007 | a0007c0008 | a0007c0008t0005 | a0007c0008t0005g0142 | 1 | 81 | 0.0123 | -30 | c.139 others(39): Show |
p.Gly others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 2517/10667 | 1391/2763 | 464/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
ASCL1_chr12_102952674_102965513 | 102958340 | TGCCACGG others(26): Show |
T | disruptive_inframe_deletion | MODERATE | HG03688.hp1 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0001 | 1 | 352 | 0.0028 | -33 | c.99_ others(39): Show |
p.Thr others(11): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1/2 | 670/2481 | 99/711 | 33/236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ASIC3_chr7_151043531_151057754 | 151050846 | CCCCCAG | C | disruptive_inframe_deletion | MODERATE | HG00438.hp1 NA18948.hp2 NA18953.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 7 | 416 | 0.0168 | -6 | c.918 others(13): Show |
p.Ser others(13): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 4/11 | 1273/2053 | 918/1596 | 306/531 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ASPHD2_chr22_26424260_26450015 | 26434157 | GGGACGCA others(5): Show |
G | disruptive_inframe_deletion | MODERATE | NA19089.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0172 | 1 | 426 | 0.0023 | -12 | c.543 others(19): Show |
p.Asp others(13): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/4 | 994/3370 | 543/1110 | 181/369 | chr22 | TogoVar | |||
ASPSCR1_chr17_81972629_82022406 | 82009034 | CAGCCCGT others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG02055.hp1 HG02723.hp1 HG02896.hp2 others(4): Show |
a0005a0007 | a0005c0009a0005c0020a0007c0016 | a0005c0009t0001a0005c0020t0001a0007c0016t0001 | a0005c0009t0001g0033 a0005c0009t0001g0152 a0005c0009t0001g0244 others(3): Show |
7 | 364 | 0.0192 | -15 | c.951 others(22): Show |
p.Val others(13): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 8/16 | 969/1764 | 951/1662 | 317/553 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ATAD2_chr8_123314850_123401447 | 123369906 | ATCTTCAT others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG01168.hp2 HG01192.hp1 |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0133 a0003c0007t0001g0135 |
2 | 276 | 0.0072 | -12 | c.834 others(19): Show |
p.Glu others(13): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 7/28 | 935/5547 | 834/4173 | 278/1390 | chr8 | TogoVar | |||
ATAD2_chr8_123314850_123401447 | 123369918 | TTCATCA | T | disruptive_inframe_deletion | MODERATE | HG00597.hp1 HG02809.hp2 HG03688.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0110 a0001c0001t0001g0201 a0001c0001t0001g0207 others(1): Show |
4 | 247 | 0.0162 | -6 | c.828 others(13): Show |
p.Asp others(13): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 7/28 | 923/5547 | 828/4173 | 276/1390 | chr8 | TogoVar | |||
ATAD5_chr17_30826966_30900869 | 30834937 | ACAATGT | A | disruptive_inframe_deletion | MODERATE | HG00544.hp2 HG00639.hp1 HG00642.hp2 others(61): Show |
a0002 | a0002c0002a0002c0012a0002c0019 | a0002c0002t0002a0002c0002t0009a0002c0002t0019others(2): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 others(56): Show |
64 | 284 | 0.2254 | -6 | c.861 others(13): Show |
p.Met others(13): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 2/23 | 1243/6873 | 861/5535 | 287/1844 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ATF7IP2_chr16_10381061_10488638 | 10430799 | GGAC | G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(188): Show |
a0002a0003a0008 | a0002c0001a0002c0008a0002c0010others(8): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0009others(14): Show | a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0007 others(185): Show |
191 | 374 | 0.5107 | -3 | c.183 others(10): Show |
p.Thr others(5): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 5/14 | 486/3741 | 183/2049 | 61/682 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ATF7IP_chr12_14360682_14507930 | 14424423 | GCCTCTGG others(8): Show |
G | disruptive_inframe_deletion | MODERATE | NA19002.hp1 | a0014 | a0014c0019 | a0014c0019t0001 | a0014c0019t0001g0310 | 1 | 344 | 0.0029 | -15 | c.522 others(22): Show |
p.Thr others(13): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 2/15 | 675/8823 | 522/3813 | 174/1270 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATMIN_chr16_81030842_81052350 | 81035884 | AGGC | A | disruptive_inframe_deletion | MODERATE | HG01109.hp2 HG02257.hp1 HG02523.hp1 others(9): Show |
a0004 | a0004c0005 | a0004c0005t0005a0004c0005t0008 | a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0008g0006 others(1): Show |
12 | 390 | 0.0308 | -3 | c.29_ others(8): Show |
p.Ala others(5): Show |
ATMIN | ENSG00000166454.10 | transcript | ENST00000299575.5 | protein_coding | 1/4 | 58/4881 | 29/2472 | 10/823 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ATN1_chr12_6922959_6947321 | 6936716 | CCAGCAA | C | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01433.hp1 HG01891.hp1 others(16): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0005a0002c0004t0001 | a0002c0003t0001g0012 a0002c0003t0001g0027 a0002c0003t0001g0031 others(10): Show |
19 | 412 | 0.0461 | -6 | c.146 others(15): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2049/4702 | 1461/3573 | 487/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATN1_chr12_6922959_6947321 | 6936725 | GCAA | G | disruptive_inframe_deletion | MODERATE | HG01993.hp1 HG02145.hp1 HG03098.hp1 others(2): Show |
a0003 | a0003c0007a0003c0015 | a0003c0007t0001a0003c0007t0010a0003c0015t0001 | a0003c0007t0001g0025 a0003c0007t0001g0085 a0003c0007t0010g0051 others(1): Show |
5 | 412 | 0.0121 | -3 | c.146 others(12): Show |
p.Gln others(6): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2049/4702 | 1461/3573 | 487/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATN1_chr12_6922959_6947321 | 6936728 | ACAG | A | disruptive_inframe_deletion | MODERATE | HG01346.hp1 HG01361.hp1 HG02615.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0028 others(8): Show |
15 | 136 | 0.1103 | -3 | c.150 others(12): Show |
p.Gln others(6): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2094/4702 | 1506/3573 | 502/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAG | A | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG01261.hp2 HG01884.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(10): Show |
29 | 150 | 0.1933 | -6 | c.150 others(15): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2091/4702 | 1503/3573 | 501/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAGC others(2): Show |
A | disruptive_inframe_deletion | MODERATE | HG01069.hp2 HG01167.hp1 HG01891.hp2 others(35): Show |
a0001a0004a0012others(1): Show | a0001c0001a0004c0009a0012c0027others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(20): Show |
38 | 159 | 0.2390 | -9 | c.150 others(18): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2088/4702 | 1500/3573 | 500/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |