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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PISD_chr22_31613491_31667215 | 31637158 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 328 | 0.0031 | -12 | c.321 others(31): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | ||||||
PITPNB_chr22_27846669_27924256 | 27872081 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 366 | 0.0027 | -12 | c.534 others(29): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 8/11 | chr22 | TogoVar | ||||||
PITPNB_chr22_27846669_27924256 | 27885212 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0113a0001c0001t0003g0006a0001c0001t0003g0057others(3): Show | 7 | 366 | 0.0191 | -12 | c.456 others(29): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 7/11 | chr22 | TogoVar | ||||||
PITPNB_chr22_27846669_27924256 | 27895588 | TCAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp2 HG01358.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0003g0124a0001c0001t0003g0125a0001c0001t0003g0126others(7): Show | 10 | 366 | 0.0273 | -12 | c.372 others(27): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 6/11 | chr22 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67408673 | TCTTTCTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0082a0001c0001t0001g0086a0001c0001t0001g0087others(57): Show | 60 | 218 | 0.2752 | -12 | c.48+ others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67408677 | TCTTCCTT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01361.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0122a0001c0001t0002g0090a0001c0001t0007g0103others(3): Show | 6 | 218 | 0.0275 | -12 | c.48+ others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67425193 | GCACGCAC others(5): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0061 | 1 | 218 | 0.0046 | -12 | c.48+ others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67425197 | GCACACGC others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0024a0001c0001t0071 | a0001c0001t0006g0176a0001c0001t0024g0174a0001c0001t0071g0069 | 3 | 218 | 0.0138 | -12 | c.48+ others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67425203 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 218 | 0.0046 | -12 | c.48+ others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67425252 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0063 | a0001c0001t0014g0019a0001c0001t0063g0037 | 2 | 218 | 0.0092 | -12 | c.48+ others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67440498 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0154a0001c0001t0002g0084a0001c0001t0002g0102others(23): Show | 26 | 218 | 0.1193 | -12 | c.48+ others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67442204 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0009 | a0001c0001t0005g0110a0001c0001t0007g0075a0001c0001t0007g0103others(1): Show | 4 | 218 | 0.0184 | -12 | c.48+ others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67490112 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0079a0001c0001t0001g0091a0001c0001t0001g0124others(34): Show | 37 | 218 | 0.1697 | -12 | c.49- others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67495037 | GTTGTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0022others(5): Show | a0001c0001t0001g0187a0001c0001t0001g0195a0001c0001t0007g0188others(6): Show | 9 | 218 | 0.0413 | -12 | c.49- others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67513353 | GTATCTAT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0079a0001c0001t0001g0081a0001c0001t0001g0082others(88): Show | 91 | 218 | 0.4174 | -12 | c.49- others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67530085 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0179 | 1 | 218 | 0.0046 | -12 | c.49- others(27): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67546175 | TCAAAAAC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0128a0001c0001t0001g0136a0001c0001t0001g0153others(21): Show | 24 | 218 | 0.1101 | -12 | c.198 others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67575795 | CTTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0213 | 1 | 218 | 0.0046 | -12 | c.295 others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67583885 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG01934.hp2 NA18943.hp2 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0064 | a0001c0001t0003g0006a0001c0001t0010g0167a0001c0001t0064g0042 | 3 | 218 | 0.0138 | -12 | c.366 others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67599001 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01167.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0086a0001c0001t0001g0128a0001c0001t0001g0200others(11): Show | 14 | 218 | 0.0642 | -12 | c.366 others(31): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67599024 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA18948.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0062 | a0001c0001t0003g0028a0001c0001t0062g0039 | 2 | 218 | 0.0092 | -12 | c.366 others(31): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67612672 | CGGATGGA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01257.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0100a0001c0001t0001g0144a0001c0001t0001g0154others(18): Show | 21 | 218 | 0.0963 | -12 | c.367 others(31): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67631053 | GTTATTAT others(5): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0216 | 1 | 218 | 0.0046 | -12 | c.367 others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67647464 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp2 HG01192.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0100a0001c0001t0001g0113a0001c0001t0001g0128others(24): Show | 27 | 218 | 0.1239 | -12 | c.462 others(31): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNM2_chr12_122978480_123156090 | 123017984 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG02886.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0002g0165others(2): Show | 5 | 230 | 0.0217 | -12 | c.79- others(27): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123018026 | TCCTTCCT others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02965.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0009 | a0002c0003t0004g0001a0002c0003t0004g0005a0002c0003t0009g0006 | 4 | 230 | 0.0174 | -12 | c.79- others(27): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123018030 | TCCTTCCT others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0022 | a0002c0022t0004 | a0002c0022t0004g0047 | 1 | 230 | 0.0044 | -12 | c.79- others(27): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123068455 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02717.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0001 | a0001c0001t0001g0046a0001c0001t0003g0099a0001c0005t0001g0048others(1): Show | 4 | 230 | 0.0174 | -12 | c.-95 others(31): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2/25 | chr12 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123068490 | TAAATAAA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02559.hp1 others(13): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0009 | a0002c0003t0004g0001a0002c0003t0004g0002a0002c0003t0004g0004others(11): Show | 16 | 230 | 0.0696 | -12 | c.-95 others(31): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2/25 | chr12 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123128264 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0088others(1): Show | 4 | 230 | 0.0174 | -12 | c.-19 others(33): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6451662 | AGAGGGTG others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0028 | 1 | 218 | 0.0046 | -12 | c.*36 others(23): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 20/20 | 3664 | chr17 | TogoVar | |||||
PITPNM3_chr17_6446263_6561555 | 6462872 | GGGAGCAC others(5): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0009 | a0002c0009t0006 | a0002c0009t0006g0063 | 1 | 218 | 0.0046 | -12 | c.230 others(29): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 17/19 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6481853 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02723.hp2 others(9): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0003a0001c0003t0071a0001c0003t0095others(8): Show | a0001c0002t0003g0047a0001c0003t0071g0161a0001c0003t0095g0213others(9): Show | 12 | 218 | 0.0551 | -12 | c.587 others(29): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6481985 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG02074.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0162a0001c0001t0002g0057a0001c0001t0006g0035others(13): Show | 16 | 218 | 0.0734 | -12 | c.587 others(29): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6560533 | TCTCCTCC others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18947.hp2 NA18969.hp1 NA18969.hp2 |
a0002 | a0002c0004a0002c0005 | a0002c0004t0025a0002c0004t0043a0002c0005t0099 | a0002c0004t0025g0077a0002c0004t0043g0079a0002c0005t0099g0086 | 3 | 218 | 0.0138 | -12 | c.-41 others(23): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 3979 | chr17 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3168914 | CTACACAC others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02965.hp1 |
a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0332a0006c0017t0001g0334a0006c0017t0001g0336 | 3 | 446 | 0.0067 | -12 | c.159 others(29): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 2/26 | chr10 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3168915 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01891.hp2 HG01934.hp2 others(24): Show |
a0001a0005a0014 | a0001c0005a0001c0028a0001c0045others(2): Show | a0001c0005t0002a0001c0028t0002a0001c0045t0002others(2): Show | a0001c0005t0002g0039a0001c0005t0002g0040a0001c0005t0002g0126others(21): Show | 27 | 446 | 0.0605 | -12 | c.159 others(29): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 2/26 | chr10 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3171146 | TTAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0328 | 1 | 446 | 0.0022 | -12 | c.57- others(25): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3171147 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0157 | 1 | 446 | 0.0022 | -12 | c.57- others(25): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | ||||||
PITX1_chr5_135022734_135039228 | 135035889 | CCCCCATC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01243.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0010a0001c0001t0013others(6): Show | a0001c0001t0007g0006a0001c0001t0010g0011a0001c0001t0013g0013others(6): Show | 26 | 404 | 0.0644 | -12 | c.-20 others(23): Show |
PITX1 | ENSG00000069011.16 | transcript | ENST00000265340.12 | protein_coding | 1662 | chr5 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130372597 | CAAAAAAA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00642.hp2 others(68): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0004g0007a0001c0001t0004g0039a0001c0001t0004g0040others(60): Show | 71 | 425 | 0.1671 | -12 | c.*99 others(22): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 21/21 | 991 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
PIWIL2_chr8_22270316_22362568 | 22294899 | GGAAAAAA others(5): Show |
G | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0278 | 1 | 296 | 0.0034 | -12 | c.118 others(31): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 10/22 | chr8 | TogoVar | ||||||
PIWIL2_chr8_22270316_22362568 | 22294900 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023a0001c0001t0006g0024 | 2 | 296 | 0.0068 | -12 | c.118 others(31): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PIWIL2_chr8_22270316_22362568 | 22330697 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG03516.hp1 NA18906.hp2 NA18969.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0124a0001c0001t0001g0132a0001c0001t0001g0144others(3): Show | 6 | 296 | 0.0203 | -12 | c.240 others(33): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PIWIL2_chr8_22270316_22362568 | 22349415 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | NA18940.hp1 NA18964.hp2 NA18966.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0269a0001c0001t0003g0270a0001c0001t0003g0272others(1): Show | 4 | 296 | 0.0135 | -12 | c.240 others(31): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PIWIL2_chr8_22270316_22362568 | 22351436 | CATACATA others(5): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02486.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0288a0001c0001t0003g0259a0001c0001t0014g0164 | 3 | 296 | 0.0101 | -12 | c.240 others(31): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PIWIL2_chr8_22270316_22362568 | 22357784 | TTGTGTGT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02895.hp1 NA19030.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0007a0004c0004t0009 | a0001c0001t0007g0180a0004c0004t0009g0176a0004c0004t0009g0178 | 3 | 296 | 0.0101 | -12 | c.*22 others(23): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 217 | chr8 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24720259 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0012 | a0012c0017 | a0012c0017t0007 | a0012c0017t0007g0185 | 1 | 386 | 0.0026 | -12 | c.235 others(29): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 19/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757659 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG03471.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0006a0003c0003t0002 | a0002c0002t0002g0086a0002c0002t0006g0010a0003c0003t0002g0057 | 3 | 386 | 0.0078 | -12 | c.355 others(27): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24764625 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03704.hp1 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0002 | a0001c0001t0001g0299a0008c0010t0002g0093 | 2 | 386 | 0.0052 | -12 | c.-22 others(29): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 1/20 | chr22 | TogoVar |