| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OTOG_chr11_17542259_17651044 | 17547457 | C | T | stop_gained | HIGH | HG03942.hp2 | a0035 | a0035c0174 | a0035c0174t0001 | a0035c0174t0001g0246 | 1 | 268 | 0.0037 | 0 | c.85C others(2): Show |
p.Gln others(3): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 1/56 | 199/8956 | 85/8742 | 29/2913 | chr11 | TogoVar | ||
| OTOL1_chr3_161491808_161508942 | 161503454 | A | T | stop_gained | HIGH | HG00642.hp1 | a0007 | a0007c0010 | a0007c0010t0000 | a0007c0010t0000g0001 | 1 | 450 | 0.0022 | 0 | c.946 others(3): Show |
p.Lys others(4): Show |
OTOL1 | ENSG00000182447.4 | transcript | ENST00000327928.4 | protein_coding | 4/4 | 946/1434 | 946/1434 | 316/477 | chr3 | TogoVar | ||
| OTOL1_chr3_161491808_161508942 | 161503499 | A | T | stop_gained | HIGH | HG00642.hp1 | a0007 | a0007c0010 | a0007c0010t0000 | a0007c0010t0000g0001 | 1 | 450 | 0.0022 | 0 | c.991 others(3): Show |
p.Lys others(4): Show |
OTOL1 | ENSG00000182447.4 | transcript | ENST00000327928.4 | protein_coding | 4/4 | 991/1434 | 991/1434 | 331/477 | chr3 | TogoVar | ||
| OTOP3_chr17_74930898_74954992 | 74949336 | G | GATTAGGC others(31): Show |
frameshift_variant others(1): Show |
HIGH | NA18954.hp1 | a0015 | a0015c0027 | a0015c0027t0001 | a0015c0027t0001g0287 | 1 | 468 | 0.0021 | 38 | c.165 others(47): Show |
p.Val others(5): Show |
OTOP3 | ENSG00000182938.7 | transcript | ENST00000328801.6 | protein_coding | 7/7 | 1682/2337 | 1658/1737 | 553/578 | chr17 | TogoVar | ||
| OVCH1_chr12_29434853_29502686 | 29454846 | C | T | stop_gained | HIGH | HG00733.hp1 | a0051 | a0051c0055 | a0051c0055t0001 | a0051c0055t0001g0261 | 1 | 400 | 0.0025 | 0 | c.263 others(4): Show |
p.Trp others(4): Show |
OVCH1 | ENSG00000187950.9 | transcript | ENST00000537054.2 | protein_coding | 21/26 | 2630/4154 | 2630/3273 | 877/1090 | chr12 | TogoVar | ||
| OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(308): Show |
stop_gained others(1): Show |
HIGH | HG03579.hp2 | a0027 | a0027c0037 | a0027c0037t0004 | a0027c0037t0004g0244 | 1 | 476 | 0.0021 | 315 | c.117 others(324): Show |
p.Leu others(328): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | ||
| OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(309): Show |
frameshift_variant others(1): Show |
HIGH | HG02622.hp1 HG02922.hp1 HG02965.hp2 others(3): Show |
a0010 | a0010c0014a0010c0039a0010c0040 | a0010c0014t0002a0010c0039t0001a0010c0040t0004 | a0010c0014t0002g0042a0010c0014t0002g0245a0010c0014t0002g0247others(2): Show | 6 | 476 | 0.0126 | 316 | c.117 others(325): Show |
p.Ile others(5): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | ||
| OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(311): Show |
stop_gained others(1): Show |
HIGH | HG03225.hp2 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0074 | 1 | 476 | 0.0021 | 318 | c.117 others(327): Show |
p.Leu others(331): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | ||
| OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(309): Show |
frameshift_variant others(1): Show |
HIGH | HG01243.hp2 HG02109.hp2 HG02145.hp2 others(5): Show |
a0008 | a0008c0009a0008c0038 | a0008c0009t0002a0008c0009t0004a0008c0038t0004 | a0008c0009t0002g0232a0008c0009t0002g0250a0008c0009t0004g0021others(3): Show | 8 | 476 | 0.0168 | 316 | c.117 others(325): Show |
p.Ile others(5): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | ||
| OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(310): Show |
frameshift_variant others(1): Show |
HIGH | HG02055.hp2 HG03540.hp2 NA21309.hp1 |
a0016 | a0016c0018 | a0016c0018t0002a0016c0018t0004 | a0016c0018t0002g0252a0016c0018t0004g0043 | 3 | 476 | 0.0063 | 317 | c.117 others(326): Show |
p.Ile others(5): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | ||
| OXA1L_chr14_22761688_22778042 | 22771114 | C | T | stop_gained | HIGH | HG01975.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0002 | 1 | 470 | 0.0021 | 0 | c.103 others(4): Show |
p.Gln others(4): Show |
OXA1L | ENSG00000155463.14 | transcript | ENST00000612549.6 | protein_coding | 8/10 | 1050/2806 | 1036/1308 | 346/435 | chr14 | TogoVar | ||
| OXGR1_chr13_96980713_96999476 | 96987042 | G | A | stop_gained | HIGH | HG03710.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0142 | 1 | 462 | 0.0022 | 0 | c.718 others(3): Show |
p.Arg others(4): Show |
OXGR1 | ENSG00000165621.9 | transcript | ENST00000541038.2 | protein_coding | 4/4 | 1174/2503 | 718/1014 | 240/337 | chr13 | TogoVar | ||
| OXNAD1_chr3_16260212_16311087 | 16286378 | G | T | stop_gained | HIGH | NA20752.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0037 | 1 | 384 | 0.0026 | 0 | c.220 others(3): Show |
p.Glu others(3): Show |
OXNAD1 | ENSG00000154814.14 | transcript | ENST00000285083.10 | protein_coding | 5/9 | 672/3916 | 220/939 | 74/312 | chr3 | TogoVar | ||
| P2RX5_chr17_3668227_3701155 | 3679765 | G | A | stop_gained | HIGH | HG02572.hp2 HG02970.hp2 |
a0001a0004 | a0001c0006a0004c0008 | a0001c0006t0001a0004c0008t0001 | a0001c0006t0001g0182a0004c0008t0001g0288 | 2 | 362 | 0.0055 | 0 | c.108 others(4): Show |
p.Gln others(4): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 11/12 | 1234/2060 | 1084/1269 | 362/422 | chr17 | TogoVar | ||
| P2RX5_chr17_3668227_3701155 | 3688089 | G | A | stop_gained | HIGH | HG04199.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0282 | 1 | 362 | 0.0028 | 0 | c.904 others(3): Show |
p.Arg others(4): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/12 | 1054/2060 | 904/1269 | 302/422 | chr17 | TogoVar | ||
| P2RX6_chr22_21010165_21033008 | 21015259 | A | T | stop_gained | HIGH | HG01981.hp1 | a0003 | a0003c0016 | a0003c0016t0003 | a0003c0016t0003g0020 | 1 | 460 | 0.0022 | 0 | c.85A others(2): Show |
p.Lys others(3): Show |
P2RX6 | ENSG00000099957.17 | transcript | ENST00000413302.7 | protein_coding | 1/12 | 95/2727 | 85/1326 | 29/441 | chr22 | TogoVar | ||
| P2RX7_chr12_121127876_121193032 | 121184605 | G | T | stop_gained | HIGH | NA18995.hp2 | a0026 | a0026c0030 | a0026c0030t0006 | a0026c0030t0006g0259 | 1 | 366 | 0.0027 | 0 | c.159 others(4): Show |
p.Glu others(4): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 13/13 | 1686/5113 | 1591/1788 | 531/595 | chr12 | TogoVar | ||
| P2RY2_chr11_73213281_73247427 | 73234258 | C | G | stop_gained | HIGH | NA19240.hp2 | a0007 | a0007c0018 | a0007c0018t0076 | a0007c0018t0076g0171 | 1 | 416 | 0.0024 | 0 | c.99C others(2): Show |
p.Tyr others(3): Show |
P2RY2 | ENSG00000175591.12 | transcript | ENST00000393597.7 | protein_coding | 3/3 | 450/8619 | 99/1134 | 33/377 | chr11 | TogoVar | ||
| P2RY4_chrX_70253166_70265204 | 70258582 | C | T | stop_gained | HIGH | HG04184.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0000 | 1 | 329 | 0.0030 | 0 | c.104 others(4): Show |
p.Trp others(4): Show |
P2RY4 | ENSG00000186912.7 | transcript | ENST00000374519.4 | protein_coding | 1/1 | 1623/2039 | 1043/1098 | 348/365 | chrX | TogoVar | ||
| PABPN1L_chr16_88858333_88871660 | 88865626 | G | T | stop_gained | HIGH | HG02132.hp2 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0068 | 1 | 452 | 0.0022 | 0 | c.396 others(3): Show |
p.Cys others(4): Show |
PABPN1L | ENSG00000205022.9 | transcript | ENST00000419291.7 | protein_coding | 3/7 | 450/1314 | 396/837 | 132/278 | chr16 | TogoVar | ||
| PAGE2B_chrX_55070030_55083909 | 55077478 | G | GT | frameshift_variant others(1): Show |
HIGH | NA18974.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0007 | 1 | 325 | 0.0031 | 1 | c.273 others(8): Show |
p.Glu others(4): Show |
PAGE2B | ENSG00000238269.9 | transcript | ENST00000374971.2 | protein_coding | 4/5 | 367/540 | 274/336 | 92/111 | chrX | TogoVar | ||
| PAK2_chr3_196734857_196837647 | 196807860 | G | GACAAACA others(22): Show |
frameshift_variant others(1): Show |
HIGH | HG02970.hp1 | a0002 | a0002c0006 | a0002c0006t0010 | a0002c0006t0010g0104 | 1 | 178 | 0.0056 | 29 | c.656 others(36): Show |
p.Asp others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 7/15 | 1007/6139 | 685/1575 | 229/524 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| PAK4_chr19_39120786_39184404 | 39176706 | C | G | stop_gained | HIGH | HG02056.hp1 | a0009 | a0009c0017 | a0009c0017t0004 | a0009c0017t0004g0361 | 1 | 368 | 0.0027 | 0 | c.147 others(4): Show |
p.Tyr others(4): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 8/10 | 1705/2830 | 1476/1776 | 492/591 | chr19 | TogoVar | ||
| PANK2_chr20_3884387_3934887 | 3889545 | G | T | stop_gained | HIGH | HG02056.hp1 | a0004 | a0004c0012 | a0004c0012t0030 | a0004c0012t0030g0285 | 1 | 422 | 0.0024 | 0 | c.115 others(3): Show |
p.Glu others(3): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/7 | 159/8020 | 115/1383 | 39/460 | chr20 | TogoVar | ||
| PANX3_chr11_124606428_124625356 | 124613035 | C | A | stop_gained | HIGH | HG03471.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0090 | 1 | 420 | 0.0024 | 0 | c.237 others(3): Show |
p.Tyr others(3): Show |
PANX3 | ENSG00000154143.3 | transcript | ENST00000284288.3 | protein_coding | 2/4 | 366/1729 | 237/1179 | 79/392 | chr11 | TogoVar | ||
| PARL_chr3_183824271_183889880 | 183884808 | G | GCAGCCCC others(177): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0019 | 1 | 358 | 0.0028 | 184 | c.38_ others(189): Show |
p.Cys others(4): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/10 | 72/1501 | 38/1140 | 13/379 | chr3 | TogoVar | ||
| PARP15_chr3_122572650_122644047 | 122632190 | C | T | stop_gained | HIGH | HG00597.hp2 | a0024 | a0024c0036 | a0024c0036t0003 | a0024c0036t0003g0166 | 1 | 356 | 0.0028 | 0 | c.154 others(4): Show |
p.Arg others(4): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 10/12 | 1561/5002 | 1543/2037 | 515/678 | chr3 | TogoVar | ||
| PARP4_chr13_24415931_24517778 | 24443709 | G | A | stop_gained | HIGH | HG01175.hp2 | a0021 | a0021c0028 | a0021c0028t0001 | a0021c0028t0001g0326 | 1 | 362 | 0.0028 | 0 | c.338 others(4): Show |
p.Arg others(5): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 28/34 | 3462/5437 | 3388/5175 | 1130/1724 | chr13 | TogoVar | ||
| PARVG_chr22_44175925_44213469 | 44206382 | C | T | stop_gained | HIGH | HG02055.hp1 NA19240.hp1 |
a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0067a0003c0007t0002g0161 | 2 | 422 | 0.0047 | 0 | c.952 others(3): Show |
p.Gln others(4): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 14/14 | 1401/3488 | 952/996 | 318/331 | chr22 | TogoVar | ||
| PBDC1_chrX_76168062_76183314 | 76173639 | T | TA | frameshift_variant others(1): Show |
HIGH | NA18978.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 1 | 293 | 0.0034 | 1 | c.86d others(3): Show |
p.Tyr others(4): Show |
PBDC1 | ENSG00000102390.11 | transcript | ENST00000373358.8 | protein_coding | 2/6 | 164/1185 | 87/702 | 29/233 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PBK_chr8_27804624_27842817 | 27823135 | G | A | stop_gained | HIGH | HG01975.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0113 | 1 | 392 | 0.0026 | 0 | c.223 others(3): Show |
p.Arg others(3): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 4/8 | 409/1836 | 223/969 | 75/322 | chr8 | TogoVar | ||
| PCDH15_chr10_53816099_54806231 | 53822028 | A | ACATGTTA others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp1 | a0031 | a0031c0032 | a0031c0032t0001 | a0031c0032t0001g0072 | 1 | 94 | 0.0106 | 25 | c.567 others(34): Show |
p.Tyr others(6): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 33/33 | 6032/6962 | 5697/5868 | 1899/1955 | chr10 | TogoVar | ||
| PCDHA11_chr5_140863957_141017347 | 140870516 | C | A | stop_gained | HIGH | HG02683.hp2 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0210 | 1 | 260 | 0.0039 | 0 | c.141 others(4): Show |
p.Cys others(4): Show |
PCDHA11 | ENSG00000249158.7 | transcript | ENST00000398640.7 | protein_coding | 1/4 | 1560/5407 | 1413/2850 | 471/949 | chr5 | TogoVar | ||
| PCDHA12_chr5_140870308_141017347 | 140877299 | C | A | stop_gained | HIGH | HG02738.hp1 HG03834.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0231a0004c0008t0001g0251 | 2 | 260 | 0.0077 | 0 | c.182 others(4): Show |
p.Tyr others(4): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/4 | 1992/5401 | 1827/2826 | 609/941 | chr5 | TogoVar | ||
| PCDHA2_chr5_140789852_141017347 | 140796271 | G | A | stop_gained | HIGH | HG02738.hp1 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0098 | 1 | 202 | 0.0050 | 0 | c.130 others(4): Show |
p.Trp others(4): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/4 | 1420/5370 | 1307/2847 | 436/948 | chr5 | TogoVar | ||
| PCDHA7_chr5_140829269_141017347 | 140834404 | C | A | stop_gained | HIGH | HG02132.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0213 | 1 | 248 | 0.0040 | 0 | c.21C others(2): Show |
p.Tyr others(2): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/4 | 136/5339 | 21/2814 | 7/937 | chr5 | TogoVar | ||
| PCDHB16_chr5_141177387_141191226 | 141184346 | C | A | stop_gained | HIGH | HG00597.hp2 NA18973.hp2 NA19062.hp2 |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0000 | 3 | 452 | 0.0066 | 0 | c.178 others(4): Show |
p.Ser others(4): Show |
PCDHB16 | ENSG00000272674.4 | transcript | ENST00000609684.3 | protein_coding | 1/1 | 1960/3840 | 1787/2331 | 596/776 | chr5 | TogoVar | ||
| PCDHB7_chr5_141167644_141181383 | 141173919 | G | T | stop_gained | HIGH | HG04204.hp1 | a0020 | a0020c0060 | a0020c0060t0002 | a0020c0060t0002g0000 | 1 | 416 | 0.0024 | 0 | c.108 others(4): Show |
p.Glu others(4): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 1276/3740 | 1084/2382 | 362/793 | chr5 | TogoVar | ||
| PCDHB7_chr5_141167644_141181383 | 141174536 | C | CGGCTCCG others(5195): Show |
stop_gained others(1): Show |
HIGH | NA18967.hp1 NA18994.hp2 |
a0014a0027 | a0014c0037a0027c0038 | a0014c0037t0001a0027c0038t0001 | a0014c0037t0001g0000a0027c0038t0001g0000 | 2 | 416 | 0.0048 | 5202 | c.170 others(5211): Show |
p.Asn others(5215): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 1894/3740 | 1702/2382 | 568/793 | chr5 | TogoVar | ||
| PCDHB7_chr5_141167644_141181383 | 141174536 | C | CGGCTCCG others(10397): Show |
stop_gained others(1): Show |
HIGH | NA18968.hp2 NA19011.hp2 |
a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0000 | 2 | 416 | 0.0048 | 10404 | c.170 others(10413): Show |
p.Asn others(10417): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 1894/3740 | 1702/2382 | 568/793 | chr5 | TogoVar | ||
| PCDHB7_chr5_141167644_141181383 | 141174627 | C | T | stop_gained | HIGH | HG00673.hp2 | a0025 | a0025c0030 | a0025c0030t0001 | a0025c0030t0001g0000 | 1 | 416 | 0.0024 | 0 | c.179 others(4): Show |
p.Gln others(4): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 1984/3740 | 1792/2382 | 598/793 | chr5 | TogoVar | ||
| PCDHB7_chr5_141167644_141181383 | 141174647 | C | A | stop_gained | HIGH | HG00673.hp2 | a0025 | a0025c0030 | a0025c0030t0001 | a0025c0030t0001g0000 | 1 | 416 | 0.0024 | 0 | c.181 others(4): Show |
p.Tyr others(4): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 2004/3740 | 1812/2382 | 604/793 | chr5 | TogoVar | ||
| PCDHB7_chr5_141167644_141181383 | 141174689 | G | A | stop_gained | HIGH | HG00673.hp2 | a0025 | a0025c0030 | a0025c0030t0001 | a0025c0030t0001g0000 | 1 | 416 | 0.0024 | 0 | c.185 others(4): Show |
p.Trp others(4): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 2046/3740 | 1854/2382 | 618/793 | chr5 | TogoVar | ||
| PCDHB7_chr5_141167644_141181383 | 141174729 | G | T | stop_gained | HIGH | HG01074.hp1 HG01192.hp2 HG06807.hp1 others(1): Show |
a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0000 | 4 | 416 | 0.0096 | 0 | c.189 others(4): Show |
p.Glu others(4): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 2086/3740 | 1894/2382 | 632/793 | chr5 | TogoVar | ||
| PCDHB7_chr5_141167644_141181383 | 141174873 | C | T | stop_gained | HIGH | HG03041.hp2 | a0029 | a0029c0026 | a0029c0026t0003 | a0029c0026t0003g0000 | 1 | 416 | 0.0024 | 0 | c.203 others(4): Show |
p.Gln others(4): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 2230/3740 | 2038/2382 | 680/793 | chr5 | TogoVar | ||
| PCDHB8_chr5_141172790_141185539 | 141179047 | T | TGATAGAT others(10397): Show |
stop_gained others(1): Show |
HIGH | HG00642.hp2 HG01123.hp1 |
a0020 | a0020c0024 | a0020c0024t0001 | a0020c0024t0001g0000 | 2 | 414 | 0.0048 | 10404 | c.172 others(10413): Show |
p.Glu others(10417): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 1/1 | 1972/2750 | 1727/2406 | 576/801 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PCDHB8_chr5_141172790_141185539 | 141179047 | T | TGATAGAT others(10397): Show |
stop_gained others(1): Show |
HIGH | HG00738.hp1 | a0032 | a0032c0037 | a0032c0037t0001 | a0032c0037t0001g0000 | 1 | 414 | 0.0024 | 10404 | c.172 others(10413): Show |
p.Glu others(10417): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 1/1 | 1972/2750 | 1727/2406 | 576/801 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PCDHB8_chr5_141172790_141185539 | 141179179 | T | TAAGTTGC others(5195): Show |
stop_gained others(1): Show |
HIGH | NA18966.hp1 | a0019 | a0019c0038 | a0019c0038t0001 | a0019c0038t0001g0000 | 1 | 414 | 0.0024 | 5202 | c.184 others(5211): Show |
p.Leu others(5215): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 1/1 | 2090/2750 | 1845/2406 | 615/801 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| PCDHB8_chr5_141172790_141185539 | 141179753 | C | A | stop_gained | HIGH | HG02922.hp1 HG02976.hp1 |
a0018 | a0018c0022 | a0018c0022t0001 | a0018c0022t0001g0000 | 2 | 414 | 0.0048 | 0 | c.171 others(4): Show |
p.Cys others(4): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 1/1 | 1964/2750 | 1719/2406 | 573/801 | chr5 | TogoVar | ||
| PCDHB8_chr5_141172790_141185539 | 141179831 | G | GAACGCCT others(5196): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0019 | a0019c0039 | a0019c0039t0001 | a0019c0039t0001g0000 | 1 | 414 | 0.0024 | 5203 | c.184 others(5212): Show |
p.Cys others(5): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 1/1 | 2090/2750 | 1845/2406 | 615/801 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |