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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(409): Show |
frameshift_variant | HIGH | HG01257.hp1 HG01952.hp1 HG01981.hp1 others(1): Show |
a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0012 | 4 | 396 | 0.0101 | 416 | c.239 others(425): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00735.hp2 | a0001 | a0001c0052 | a0001c0052t0001 | a0001c0052t0001g0069 | 1 | 396 | 0.0025 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00280.hp1 HG01975.hp2 HG01978.hp1 others(2): Show |
a0000a0001 | a0000c0051a0001c0013 | a0000c0051t0001a0001c0013t0001a0001c0013t0003 | a0000c0051t0001g0067a0001c0013t0001g0021a0001c0013t0003g0095 | 5 | 396 | 0.0126 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(409): Show |
frameshift_variant | HIGH | HG00621.hp1 HG01243.hp1 HG01884.hp1 others(16): Show |
a0001a0017a0018 | a0001c0003a0001c0017a0017c0043others(1): Show | a0001c0003t0001a0001c0017t0001a0017c0043t0001others(1): Show | a0001c0003t0001g0006a0001c0003t0001g0017a0001c0003t0001g0133others(4): Show | 19 | 396 | 0.0480 | 416 | c.239 others(425): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(367): Show |
frameshift_variant | HIGH | HG02572.hp2 NA19030.hp1 |
a0006 | a0006c0020 | a0006c0020t0010 | a0006c0020t0010g0045 | 2 | 396 | 0.0051 | 374 | c.239 others(383): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(432): Show |
frameshift_variant | HIGH | NA20129.hp2 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0100 | 1 | 396 | 0.0025 | 439 | c.239 others(448): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(409): Show |
frameshift_variant | HIGH | HG01943.hp2 | a0001 | a0001c0062 | a0001c0062t0001 | a0001c0062t0001g0099 | 1 | 396 | 0.0025 | 416 | c.239 others(425): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(345): Show |
frameshift_variant | HIGH | HG04184.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0077 | 1 | 396 | 0.0025 | 352 | c.239 others(361): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp2 HG01069.hp2 HG01071.hp2 others(1): Show |
a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0013 | 4 | 396 | 0.0101 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGTCCC others(409): Show |
frameshift_variant | HIGH | HG00642.hp1 | a0001 | a0001c0056 | a0001c0056t0001 | a0001c0056t0001g0090 | 1 | 396 | 0.0025 | 416 | c.239 others(425): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGTCCC others(408): Show |
frameshift_variant | HIGH | HG02056.hp1 | a0003 | a0003c0069 | a0003c0069t0001 | a0003c0069t0001g0081 | 1 | 396 | 0.0025 | 415 | c.239 others(424): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGTCCC others(430): Show |
frameshift_variant | HIGH | HG02129.hp2 | a0020 | a0020c0049 | a0020c0049t0001 | a0020c0049t0001g0094 | 1 | 396 | 0.0025 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440085 | ACATCTTC others(1104): Show |
A | frameshift_variant | HIGH | HG01884.hp2 HG02280.hp1 HG03195.hp1 others(1): Show |
a0000 | a0000c0012 | a0000c0012t0002a0000c0012t0005 | a0000c0012t0002g0113a0000c0012t0005g0024 | 4 | 396 | 0.0101 | -1111 | c.127 others(9): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2451/3499 | 1279/2730 | 427/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440106 | G | GCATCTTC others(430): Show |
frameshift_variant | HIGH | HG02257.hp2 | a0010 | a0010c0030 | a0010c0030t0019 | a0010c0030t0019g0060 | 1 | 396 | 0.0025 | 437 | c.236 others(446): Show |
p.Ala others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2430/3499 | 2368/2730 | 790/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440178 | C | CCTCCTGC others(97): Show |
frameshift_variant | HIGH | HG00280.hp1 | a0000 | a0000c0051 | a0000c0051t0001 | a0000c0051t0001g0067 | 1 | 396 | 0.0025 | 104 | c.229 others(113): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2358/3499 | 2296/2730 | 766/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440306 | TTCTGCTC others(4): Show |
T | frameshift_variant | HIGH | HG02109.hp2 | a0006 | a0006c0032 | a0006c0032t0010 | a0006c0032t0010g0129 | 1 | 396 | 0.0025 | -11 | c.215 others(20): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2230/3499 | 2158/2730 | 720/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440317 | A | ATCCCGCA others(226): Show |
frameshift_variant | HIGH | HG03209.hp2 | a0026 | a0026c0040 | a0026c0040t0022 | a0026c0040t0022g0125 | 1 | 396 | 0.0025 | 233 | c.215 others(242): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2219/3499 | 2157/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440317 | A | ATCCCGCA others(226): Show |
frameshift_variant | HIGH | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(14): Show |
a0002a0009a0027 | a0002c0008a0002c0011a0002c0041others(2): Show | a0002c0008t0007a0002c0008t0013a0002c0008t0021others(5): Show | a0002c0008t0007g0016a0002c0008t0013g0043a0002c0008t0021g0127others(7): Show | 17 | 396 | 0.0429 | 233 | c.215 others(242): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2219/3499 | 2157/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240150 | GAACAGGA others(12): Show |
G | frameshift_variant | HIGH | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | -19 | c.797 others(26): Show |
p.Glu others(5): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 859/4553 | 797/1725 | 266/574 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28843096 | CTCCCCCA others(15): Show |
C | frameshift_variant | HIGH | NA18965.hp2 | a0047 | a0047c0026 | a0047c0026t0002 | a0047c0026t0002g0078 | 1 | 422 | 0.0024 | -22 | c.986 others(30): Show |
p.Lys others(5): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1102/2367 | 986/1869 | 329/622 | chr15 | TogoVar | ||
GOLGA8J_chr15_30077955_30101690 | 30090166 | GTCTCCAG others(90): Show |
G | frameshift_variant others(3): Show |
HIGH | NA19043.hp1 | a0054 | a0054c0047 | a0054c0047t0012 | a0054c0047t0012g0179 | 1 | 345 | 0.0029 | -97 | c.113 others(109): Show |
p.Asn others(5): Show |
GOLGA8J | ENSG00000179938.13 | transcript | ENST00000567927.2 | protein_coding | 13/19 | 1132/1899 | 378/632 | chr15 | TogoVar | |||
GOLGA8O_chr15_32436914_32460634 | 32445679 | A | ATATTAGC others(28): Show |
frameshift_variant others(1): Show |
HIGH | HG02976.hp1 | a0030 | a0030c0051 | a0030c0051t0007 | a0030c0051t0007g0170 | 1 | 214 | 0.0047 | 35 | c.150 others(44): Show |
p.Ala others(5): Show |
GOLGA8O | ENSG00000206127.11 | transcript | ENST00000509311.7 | protein_coding | 17/19 | 1603/5189 | 1505/1899 | 502/632 | chr15 | TogoVar | ||
GOT1L1_chr8_37929281_37945124 | 37934470 | GT | G | frameshift_variant | HIGH | HG02056.hp2 HG02080.hp2 NA18944.hp1 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0032a0003c0003t0001g0047a0003c0003t0001g0110others(3): Show | 9 | 434 | 0.0207 | -1 | c.108 others(5): Show |
p.Tyr others(5): Show |
GOT1L1 | ENSG00000169154.7 | transcript | ENST00000307599.5 | protein_coding | 9/9 | 1183/1373 | 1088/1266 | 363/421 | chr8 | TogoVar | ||
GP1BA_chr17_4927277_4940023 | 4933871 | ACCCCGGA others(72): Show |
A | frameshift_variant | HIGH | NA18987.hp1 | a0015 | a0015c0017 | a0015c0017t0003 | a0015c0017t0003g0001 | 1 | 424 | 0.0024 | -79 | c.127 others(88): Show |
p.Pro others(5): Show |
GP1BA | ENSG00000185245.9 | transcript | ENST00000329125.6 | protein_coding | 2/2 | 1366/2514 | 1271/1959 | 424/652 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
GP6_chr19_55008705_55043264 | 55014735 | G | GCAGA | frameshift_variant | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0003a0019 | a0003c0003a0003c0016a0003c0019others(1): Show | a0003c0003t0003a0003c0016t0003a0003c0019t0003others(1): Show | a0003c0003t0003g0003a0003c0003t0003g0004a0003c0003t0003g0019others(53): Show | 58 | 441 | 0.1315 | 4 | c.120 others(13): Show |
p.Pro others(5): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 8/8 | 1237/2268 | 1209/1863 | 403/620 | chr19 | TogoVar | ||
GPBP1_chr5_57169059_57269673 | 57246293 | TATGCAGA others(17): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18939.hp1 | a0004 | a0004c0010 | a0004c0010t0009 | a0004c0010t0009g0033 | 1 | 290 | 0.0035 | -24 | c.479 others(33): Show |
p.Glu others(5): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 7/12 | 479/1422 | 160/473 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
GPC3_chrX_133530745_133990594 | 133985334 | CG | C | frameshift_variant | HIGH | NA19067.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0151 | 1 | 152 | 0.0066 | -1 | c.115 others(4): Show |
p.Arg others(4): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 1/8 | 260/2267 | 115/1743 | 39/580 | chrX | TogoVar | ||
GPC3_chrX_133530745_133990594 | 133985387 | CG | C | frameshift_variant | HIGH | NA19067.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0151 | 1 | 152 | 0.0066 | -1 | c.62d others(3): Show |
p.Pro others(4): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 1/8 | 207/2267 | 62/1743 | 21/580 | chrX | TogoVar | ||
GPC4_chrX_133295103_133420489 | 133324397 | T | TC | frameshift_variant | HIGH | NA18967.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0056 | 1 | 221 | 0.0045 | 1 | c.458 others(4): Show |
p.Asn others(5): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 3/9 | 982/4959 | 458/1671 | 153/556 | chrX | TogoVar | ||
GPC4_chrX_133295103_133420489 | 133324400 | C | CA | frameshift_variant | HIGH | NA19006.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0004 | 1 | 221 | 0.0045 | 1 | c.455 others(4): Show |
p.Asn others(5): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 3/9 | 979/4959 | 455/1671 | 152/556 | chrX | TogoVar | ||
GPC4_chrX_133295103_133420489 | 133324404 | A | AC | frameshift_variant | HIGH | NA19006.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0004 | 1 | 221 | 0.0045 | 1 | c.451 others(4): Show |
p.Val others(5): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 3/9 | 975/4959 | 451/1671 | 151/556 | chrX | TogoVar | ||
GPC4_chrX_133295103_133420489 | 133324463 | T | TA | frameshift_variant | HIGH | NA19006.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0004 | 1 | 221 | 0.0045 | 1 | c.392 others(4): Show |
p.Leu others(5): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 3/9 | 916/4959 | 392/1671 | 131/556 | chrX | TogoVar | ||
GPC4_chrX_133295103_133420489 | 133414820 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0006 | a0006c0003 | a0006c0003t0024 | a0006c0003t0024g0218 | 1 | 221 | 0.0045 | 1 | c.145 others(4): Show |
p.Leu others(4): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 1/9 | 669/4959 | 145/1671 | 49/556 | chrX | TogoVar | ||
GPIHBP1_chr8_143208218_143222170 | 143215063 | AACCTGAC others(4): Show |
A | frameshift_variant | HIGH | HG01952.hp1 | a0000 | a0000c0006 | a0000c0006t0001 | a0000c0006t0001g0001 | 1 | 106 | 0.0094 | -11 | c.234 others(18): Show |
p.Asn others(4): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 3/4 | 284/2257 | 234/555 | 78/184 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
GPKOW_chrX_49108407_49128735 | 49113750 | T | TC | frameshift_variant | HIGH | NA18974.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0053 | 1 | 276 | 0.0036 | 1 | c.130 others(5): Show |
p.His others(5): Show |
GPKOW | ENSG00000068394.11 | transcript | ENST00000156109.7 | protein_coding | 11/11 | 1314/1658 | 1301/1431 | 434/476 | chrX | TogoVar | ||
GPKOW_chrX_49108407_49128735 | 49119760 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0038 | 1 | 276 | 0.0036 | -1 | c.510 others(4): Show |
p.Met others(5): Show |
GPKOW | ENSG00000068394.11 | transcript | ENST00000156109.7 | protein_coding | 4/11 | 523/1658 | 510/1431 | 170/476 | chrX | TogoVar | ||
GPKOW_chrX_49108407_49128735 | 49119766 | GC | G | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0038 | 1 | 276 | 0.0036 | -1 | c.504 others(4): Show |
p.Leu others(5): Show |
GPKOW | ENSG00000068394.11 | transcript | ENST00000156109.7 | protein_coding | 4/11 | 517/1658 | 504/1431 | 168/476 | chrX | TogoVar | ||
GPKOW_chrX_49108407_49128735 | 49122692 | A | AG | frameshift_variant | HIGH | NA19012.hp1 NA19076.hp1 |
a0005 | a0005c0007a0005c0008 | a0005c0007t0001a0005c0008t0001 | a0005c0007t0001g0038a0005c0008t0001g0037 | 2 | 276 | 0.0073 | 1 | c.260 others(4): Show |
p.Gly others(4): Show |
GPKOW | ENSG00000068394.11 | transcript | ENST00000156109.7 | protein_coding | 2/11 | 273/1658 | 260/1431 | 87/476 | chrX | TogoVar | ||
GPR101_chrX_137018929_137038995 | 137031379 | A | AG | frameshift_variant | HIGH | NA18942.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0023 | 1 | 306 | 0.0033 | 1 | c.295 others(4): Show |
p.Leu others(4): Show |
GPR101 | ENSG00000165370.3 | transcript | ENST00000651716.2 | protein_coding | 2/2 | 581/8032 | 295/1527 | 99/508 | chrX | TogoVar | ||
GPR101_chrX_137018929_137038995 | 137031416 | A | AG | frameshift_variant | HIGH | NA18942.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0023 | 1 | 306 | 0.0033 | 1 | c.258 others(4): Show |
p.Trp others(4): Show |
GPR101 | ENSG00000165370.3 | transcript | ENST00000651716.2 | protein_coding | 2/2 | 544/8032 | 258/1527 | 86/508 | chrX | TogoVar | ||
GPR101_chrX_137018929_137038995 | 137031574 | C | CG | frameshift_variant | HIGH | NA18942.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0023 | 1 | 306 | 0.0033 | 1 | c.100 others(4): Show |
p.Arg others(4): Show |
GPR101 | ENSG00000165370.3 | transcript | ENST00000651716.2 | protein_coding | 2/2 | 386/8032 | 100/1527 | 34/508 | chrX | TogoVar | ||
GPR135_chr14_59455759_59470380 | 59464198 | G | GCA | frameshift_variant | HIGH | HG01257.hp1 HG01258.hp1 HG01433.hp1 others(13): Show |
a0003a0010 | a0003c0004a0010c0016 | a0003c0004t0001a0010c0016t0001 | a0003c0004t0001g0000a0010c0016t0001g0000 | 16 | 368 | 0.0435 | 2 | c.102 others(11): Show |
p.Trp others(5): Show |
GPR135 | ENSG00000181619.12 | transcript | ENST00000395116.2 | protein_coding | 1/1 | 1182/4622 | 1028/1485 | 343/494 | chr14 | TogoVar | ||
GPR137B_chr1_236137539_236213907 | 236178488 | T | TAAAGACG others(3): Show |
frameshift_variant | HIGH | HG01192.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0256 | 1 | 386 | 0.0026 | 10 | c.542 others(17): Show |
p.Asn others(5): Show |
GPR137B | ENSG00000077585.14 | transcript | ENST00000366592.8 | protein_coding | 3/7 | 636/2033 | 552/1200 | 184/399 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
GPR137C_chr14_52547836_52642713 | 52553256 | T | TCCCCCCC others(39): Show |
frameshift_variant | HIGH | HG02040.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0248 | 1 | 346 | 0.0029 | 46 | c.110 others(53): Show |
p.Gly others(4): Show |
GPR137C | ENSG00000180998.12 | transcript | ENST00000321662.11 | protein_coding | 1/7 | 423/4200 | 111/1290 | 37/429 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
GPR143_chrX_9720346_9770847 | 9739520 | T | TC | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0133 | 1 | 270 | 0.0037 | 1 | c.108 others(10): Show |
p.Gln others(5): Show |
GPR143 | ENSG00000101850.13 | transcript | ENST00000467482.6 | protein_coding | 8/9 | 1114/1645 | 1084/1215 | 362/404 | chrX | TogoVar | ||
GPR143_chrX_9720346_9770847 | 9739555 | G | GT | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0133 | 1 | 270 | 0.0037 | 1 | c.104 others(5): Show |
p.Asn others(5): Show |
GPR143 | ENSG00000101850.13 | transcript | ENST00000467482.6 | protein_coding | 8/9 | 1079/1645 | 1049/1215 | 350/404 | chrX | TogoVar | ||
GPR143_chrX_9720346_9770847 | 9739657 | G | GC | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0133 | 1 | 270 | 0.0037 | 1 | c.947 others(4): Show |
p.Cys others(5): Show |
GPR143 | ENSG00000101850.13 | transcript | ENST00000467482.6 | protein_coding | 8/9 | 977/1645 | 947/1215 | 316/404 | chrX | TogoVar | ||
GPR143_chrX_9720346_9770847 | 9739681 | C | CA | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0133 | 1 | 270 | 0.0037 | 1 | c.923 others(4): Show |
p.Leu others(5): Show |
GPR143 | ENSG00000101850.13 | transcript | ENST00000467482.6 | protein_coding | 8/9 | 953/1645 | 923/1215 | 308/404 | chrX | TogoVar |