geneid | 728395 |
---|---|
ensemblid | ENSG00000233803.9 |
hgncid | 37287 |
symbol | TSPY4 |
name | testis specific protein Y-linked 4 |
refseq_nuc | NM_001164471.2 |
refseq_prot | NP_001157943.1 |
ensembl_nuc | ENST00000426950.6 |
ensembl_prot | ENSP00000399668.2 |
mane_status | MANE Select |
chr | chrY |
start | 9337464 |
end | 9340278 |
strand | + |
ver | v1.2 |
region | chrY:9337464-9340278 |
region5000 | chrY:9332464-9345278 |
regionname0 | TSPY4_chrY_9337464_9340278 |
regionname5000 | TSPY4_chrY_9332464_9345278 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 54 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
a0002 | 0/0 | 308 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
a0003 | 0/0 | 308 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 930 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
c0002 | 0/0 | 927 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
c0003 | 0/0 | 927 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/0 | 235 | 2 | 0 | 0 | 2 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
t0002 | 0/0 | 235 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | chrY | 9332464 | 9345278 |
g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | chrY | 9332464 | 9345278 |
g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | chrY | 9332464 | 9345278 |
achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 930 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
a0002c0002 | 0/0 | 927 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
a0003c0003 | 0/0 | 927 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002 | 0/0 | 1164 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
a0002c0002t0001 | 0/0 | 1161 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
a0003c0003t0001 | 0/0 | 1161 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | copy fasta | chrY | 9332464 | 9345278 |
actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | chrY | 9332464 | 9345278 |
a0002c0002t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | chrY | 9332464 | 9345278 |
a0003c0003t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY4_chrY_9332464_9345278 | TSPY4 | chrY | 9332464 | 9345278 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
NA18974 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | TSPY4_chrY_9332464_9345278 | TSPY4 | chrY | 9332464 | 9345278 |
NA18983 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | TSPY4_chrY_9332464_9345278 | TSPY4 | chrY | 9332464 | 9345278 |
NA18985 | hp1 | a0003 | c0003 | t0001 | g0003 | EAS | JPT | TSPY4_chrY_9332464_9345278 | TSPY4 | chrY | 9332464 | 9345278 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrY:9337537
|
C | CG | 1 | a0001 | 1 | NA18983.hp1 | frameshift_variant | HIGH | c.31dupG | p.Val11fs | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 78/1179 | 32/945 | 11/314 | INFO_REALIGN_3_PRIME | chrY | 9337537 | |
chrY:9337537
|
C | T | 1 | a0003 | 1 | NA18985.hp1 | missense_variant | MODERATE | c.28C>T | p.Arg10Trp | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 74/1179 | 28/945 | 10/314 | chrY | 9337537 | ||
chrY:9337579
|
CG | C | 1 | a0001 | 1 | NA18983.hp1 | frameshift_variant | HIGH | c.73delG | p.Ala25fs | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 119/1179 | 73/945 | 25/314 | INFO_REALIGN_3_PRIME | chrY | 9337579 | |
chrY:9337649
|
A | AG | 1 | a0001 | 1 | NA18983.hp1 | frameshift_variant | HIGH | c.145dupG | p.Ala49fs | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 192/1179 | 146/945 | 49/314 | INFO_REALIGN_3_PRIME | chrY | 9337649 | |
chrY:9337720
|
ATGGCGGA others(11): Show |
A | 3 | a0001a0002a0003 | 3 | NA18974.hp1 NA18983.hp1 NA18985.hp1 |
disruptive_inframe_deletion | MODERATE | c.239_256delTGGAGGTG others(10): Show |
p.Val80_Glu85del | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 285/1179 | 239/945 | 80/314 | INFO_REALIGN_3_PRIME | chrY | 9337720 | |
chrY:9339094
|
A | AG | 1 | a0001 | 1 | NA18983.hp1 | frameshift_variant | HIGH | c.751dupG | p.Ala251fs | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 4/6 | 798/1179 | 752/945 | 251/314 | INFO_REALIGN_3_PRIME | chrY | 9339094 | |
chrY:9339155
|
C | CA | 1 | a0001 | 1 | NA18983.hp1 | frameshift_variant | HIGH | c.812dupA | p.Asn271fs | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 4/6 | 859/1179 | 813/945 | 271/314 | INFO_REALIGN_3_PRIME | chrY | 9339155 |
chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrY:9337644
|
A | G | 1 | a0001c0001 | 1 | NA18983.hp1 | synonymous_variant | LOW | c.135A>G | p.Val45Val | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 181/1179 | 135/945 | 45/314 | chrY | 9337644 |
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrY:9337480
|
TC | T | 1 | a0001c0001t0002 | 1 | NA18983.hp1 | 5_prime_UTR_variant | MODIFIER | c.-27delC | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 27 | INFO_REALIGN_3_PRIME | chrY | 9337480 | ||||
chrY:9340108
|
A | AT | 1 | a0001c0001t0002 | 1 | NA18983.hp1 | 3_prime_UTR_variant | MODIFIER | c.*22dupT | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 6/6 | 23 | INFO_REALIGN_3_PRIME | chrY | 9340108 |
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrY:9338082
|
TG | T | 1 | a0001c0001t0002g0001 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.504+72delG | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrY | 9338082 | |||||
chrY:9338140
|
G | A | 2 | a0002c0002t0001g0002a0003c0003t0001g0003 | 2 | NA18974.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.504+127G>A | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/5 | chrY | 9338140 | ||||||
chrY:9338163
|
A | AG | 1 | a0001c0001t0002g0001 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.504+152dupG | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrY | 9338163 | |||||
chrY:9338475
|
C | A | 1 | a0001c0001t0002g0001 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.505-146C>A | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/5 | chrY | 9338475 | ||||||
chrY:9338481
|
G | C | 1 | a0002c0002t0001g0002 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.505-140G>C | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/5 | chrY | 9338481 | ||||||
chrY:9338550
|
C | T | 1 | a0001c0001t0002g0001 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.505-71C>T | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/5 | chrY | 9338550 | ||||||
chrY:9338722
|
A | G | 1 | a0002c0002t0001g0002 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.582+24A>G | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 2/5 | chrY | 9338722 | ||||||
chrY:9339221
|
A | G | 2 | a0002c0002t0001g0002a0003c0003t0001g0003 | 2 | NA18974.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.840+36A>G | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 4/5 | chrY | 9339221 | ||||||
chrY:9339592
|
G | GGT | 1 | a0001c0001t0002g0001 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.922+220_922+221ins others(2): Show |
TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9339592 | |||||
chrY:9339728
|
G | A | 3 | a0001c0001t0002g0001a0002c0002t0001g0002a0003c0003t0001g0003 | 3 | NA18974.hp1 NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.923-340G>A | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 5/5 | chrY | 9339728 | ||||||
chrY:9339788
|
CA | C | 1 | a0001c0001t0002g0001 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.923-277delA | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9339788 | |||||
chrY:9339857
|
T | C | 3 | a0001c0001t0002g0001a0002c0002t0001g0002a0003c0003t0001g0003 | 3 | NA18974.hp1 NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.923-211T>C | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 5/5 | chrY | 9339857 | ||||||
chrY:9339873
|
A | AG | 1 | a0001c0001t0002g0001 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.923-194dupG | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9339873 | |||||
chrY:9339904
|
TG | T | 1 | a0001c0001t0002g0001 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.923-160delG | TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9339904 |