Item | Value |
---|---|
geneid | 7258 |
ensemblid | ENSG00000258992.7 |
hgncid | 12381 |
symbol | TSPY1 |
name | testis specific protein Y-linked 1 |
refseq_nuc | NM_003308.4 |
refseq_prot | NP_003299.2 |
ensembl_nuc | ENST00000451548.6 |
ensembl_prot | ENSP00000403304.1 |
mane_status | MANE Select |
chr | chrY |
start | 9466955 |
end | 9469749 |
strand | + |
ver | v1.2 |
region | chrY:9466955-9469749 |
region5000 | chrY:9461955-9474749 |
regionname0 | TSPY1_chrY_9466955_9469749 |
regionname5000 | TSPY1_chrY_9461955_9474749 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 308 | 10 | 2 | 1 | 3 | 0 | 4 | 2 | TSPY1_chrY_9461955_9474749 | TSPY1 | MRPEG others(303): Show |
chrY | 9461955 | 9474749 |
a0002 | 0/0 | 308 | 4 | 0 | 1 | 1 | 1 | 1 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | MRPEG others(303): Show |
chrY | 9461955 | 9474749 |
a0003 | 0/0 | 88 | 4 | 0 | 1 | 0 | 2 | 1 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | MRPEG others(83): Show |
chrY | 9461955 | 9474749 |
a0004 | 0/0 | 308 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | MRPEG others(303): Show |
chrY | 9461955 | 9474749 |
a0005 | 0/0 | 308 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | MRPEG others(303): Show |
chrY | 9461955 | 9474749 |
a0006 | 0/0 | 290 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | MRPEG others(285): Show |
chrY | 9461955 | 9474749 |
a0007 | 0/0 | 171 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | MRPEG others(166): Show |
chrY | 9461955 | 9474749 |
a0008 | 0/0 | 308 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | MRPEG others(303): Show |
chrY | 9461955 | 9474749 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 924 | 7 | 1 | 1 | 1 | 0 | 4 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(919): Show |
chrY | 9461955 | 9474749 | ||
a0001c0004 | 0/0 | 924 | 2 | 1 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(919): Show |
chrY | 9461955 | 9474749 | ||
a0001c0008 | 0/0 | 924 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(919): Show |
chrY | 9461955 | 9474749 | ||
a0002c0003 | 0/0 | 924 | 3 | 0 | 1 | 0 | 1 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(919): Show |
chrY | 9461955 | 9474749 | ||
a0002c0011 | 0/0 | 924 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(919): Show |
chrY | 9461955 | 9474749 | ||
a0003c0002 | 0/0 | 924 | 4 | 0 | 1 | 0 | 2 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(919): Show |
chrY | 9461955 | 9474749 | ||
a0004c0007 | 0/0 | 924 | 1 | 1 | 0 | 0 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(919): Show |
chrY | 9461955 | 9474749 | ||
a0005c0005 | 0/0 | 924 | 1 | 0 | 0 | 0 | 0 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(919): Show |
chrY | 9461955 | 9474749 | ||
a0006c0009 | 0/0 | 923 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(918): Show |
chrY | 9461955 | 9474749 | ||
a0007c0006 | 0/0 | 922 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(917): Show |
chrY | 9461955 | 9474749 | ||
a0008c0010 | 0/0 | 924 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | ATGCG others(919): Show |
chrY | 9461955 | 9474749 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1162 | 6 | 0 | 1 | 1 | 0 | 4 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1157): Show |
chrY | 9461955 | 9474749 |
a0001c0001t0002 | 0/0 | 1161 | 1 | 1 | 0 | 0 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1156): Show |
chrY | 9461955 | 9474749 |
a0001c0004t0002 | 0/0 | 1161 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1156): Show |
chrY | 9461955 | 9474749 |
a0001c0004t0003 | 0/0 | 1161 | 1 | 1 | 0 | 0 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1156): Show |
chrY | 9461955 | 9474749 |
a0001c0008t0001 | 0/0 | 1162 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1157): Show |
chrY | 9461955 | 9474749 |
a0002c0003t0001 | 0/0 | 1162 | 3 | 0 | 1 | 0 | 1 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1157): Show |
chrY | 9461955 | 9474749 |
a0002c0011t0002 | 0/0 | 1161 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1156): Show |
chrY | 9461955 | 9474749 |
a0003c0002t0002 | 0/0 | 1161 | 4 | 0 | 1 | 0 | 2 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1156): Show |
chrY | 9461955 | 9474749 |
a0004c0007t0001 | 0/0 | 1162 | 1 | 1 | 0 | 0 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1157): Show |
chrY | 9461955 | 9474749 |
a0005c0005t0001 | 0/0 | 1162 | 1 | 0 | 0 | 0 | 0 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1157): Show |
chrY | 9461955 | 9474749 |
a0006c0009t0004 | 0/0 | 1162 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1157): Show |
chrY | 9461955 | 9474749 |
a0007c0006t0005 | 0/0 | 1159 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1154): Show |
chrY | 9461955 | 9474749 |
a0008c0010t0002 | 0/0 | 1161 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | GGCCC others(1156): Show |
chrY | 9461955 | 9474749 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 4 | 0 | 0 | 1 | 0 | 3 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0001c0001t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0001c0004t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0001c0004t0003g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0001c0008t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0002c0003t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0002c0003t0001g0003 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0002c0011t0002g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0003c0002t0002g0002 | 0/0 | 4 | 0 | 1 | 0 | 2 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0004c0007t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0005c0005t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0006c0009t0004g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0007c0006t0005g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
a0008c0010t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG01069 | hp2 | a0002 | c0003 | t0001 | g0003 | AMR | PUR | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG01358 | hp2 | a0003 | c0002 | t0002 | g0002 | AMR | CLM | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG01515 | hp1 | a0003 | c0002 | t0002 | g0002 | EUR | IBS | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG02602 | hp1 | a0003 | c0002 | t0002 | g0002 | SAS | PJL | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG02647 | hp2 | a0001 | c0004 | t0003 | g0008 | AFR | GWD | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG02965 | hp2 | a0004 | c0007 | t0001 | g0005 | AFR | ESN | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG03654 | hp1 | a0002 | c0003 | t0001 | g0001 | SAS | PJL | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG03688 | hp2 | a0005 | c0005 | t0001 | g0001 | SAS | STU | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0011 | SAS | STU | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
NA18612 | hp2 | a0001 | c0004 | t0002 | g0006 | EAS | CHB | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
NA18953 | hp1 | a0006 | c0009 | t0004 | g0004 | EAS | JPT | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
NA18960 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
NA18982 | hp1 | a0007 | c0006 | t0005 | g0010 | EAS | JPT | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
NA19007 | hp2 | a0002 | c0011 | t0002 | g0007 | EAS | JPT | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
NA19058 | hp1 | a0008 | c0010 | t0002 | g0013 | EAS | JPT | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
NA20752 | hp2 | a0003 | c0002 | t0002 | g0002 | EUR | TSI | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
NA20805 | hp2 | a0002 | c0003 | t0001 | g0003 | EUR | TSI | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
HG03471 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | MSL | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
NA18955 | hp1 | a0001 | c0008 | t0001 | g0009 | EAS | JPT | TSPY1_chrY_9461955_9474749 | TSPY1 | chrY | 9461955 | 9474749 |
view | 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:9467130 | G | A | 1 | a0005 | 1 | HG03688.hp2 | missense_variant | MODERATE | c.130G>A | p.Ala44Thr | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/6 | 176/1161 | 130/927 | 44/308 | chrY | 9467130 | |||
chrY:9467215 | C | T | 1 | a0005 | 1 | HG03688.hp2 | missense_variant | MODERATE | c.215C>T | p.Ala72Val | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/6 | 261/1161 | 215/927 | 72/308 | chrY | 9467215 | |||
chrY:9467265 | G | T | 1 | a0003 | 4 | HG01358.hp2 HG01515.hp1 HG02602.hp1 others(1): Show |
stop_gained | HIGH | c.265G>T | p.Glu89* | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/6 | 311/1161 | 265/927 | 89/308 | chrY | 9467265 | |||
chrY:9467326 | C | T | 6 | a0001 a0002 a0003 others(3): Show |
21 | HG01069.hp2 HG01106.hp2 HG01358.hp2 others(18): Show |
missense_variant | MODERATE | c.326C>T | p.Pro109Leu | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/6 | 372/1161 | 326/927 | 109/308 | chrY | 9467326 | |||
chrY:9467432 | C | G | 1 | a0002 | 4 | HG01069.hp2 HG03654.hp1 NA19007.hp2 others(1): Show |
missense_variant | MODERATE | c.432C>G | p.His144Gln | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/6 | 478/1161 | 432/927 | 144/308 | chrY | 9467432 | |||
chrY:9468104 | AC | A | 1 | a0007 | 1 | NA18982.hp1 | frameshift_variant | HIGH | c.502delC | p.Gln168fs | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 2/6 | 548/1161 | 502/927 | 168/308 | INFO_REALIGN_3_PRIME | chrY | 9468104 | ||
chrY:9468304 | G | A | 7 | a0001 a0002 a0003 others(4): Show |
22 | HG01069.hp2 HG01106.hp2 HG01358.hp2 others(19): Show |
missense_variant | MODERATE | c.569G>A | p.Gly190Glu | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 3/6 | 615/1161 | 569/927 | 190/308 | chrY | 9468304 | |||
chrY:9468552 | CG | C | 1 | a0007 | 1 | NA18982.hp1 | frameshift_variant | HIGH | c.718delG | p.Asp240fs | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 4/6 | 764/1161 | 718/927 | 240/308 | INFO_REALIGN_3_PRIME | chrY | 9468552 | ||
chrY:9468791 | TC | T | 1 | a0006 | 1 | NA18953.hp1 | frameshift_variant | HIGH | c.853delC | p.Leu285fs | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/6 | 899/1161 | 853/927 | 285/308 | INFO_REALIGN_3_PRIME | chrY | 9468791 |
view | 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:9467135 | G | A | 7 | a0001c0001 a0001c0008 a0002c0003 others(4): Show |
15 | HG01069.hp2 HG01106.hp2 HG02698.hp1 others(12): Show |
synonymous_variant | LOW | c.135G>A | p.Val45Val | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/6 | 181/1161 | 135/927 | 45/308 | chrY | 9467135 | |||
chrY:9468842 | G | A | 1 | a0001c0008 | 1 | NA18955.hp1 | synonymous_variant | LOW | c.900G>A | p.Thr300Thr | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/6 | 946/1161 | 900/927 | 300/308 | chrY | 9468842 |
view | 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:9469648 | C | CT | 7 | a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 others(4): Show |
14 | HG01069.hp2 HG01106.hp2 HG02698.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*89dupT | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 6/6 | 90 | INFO_REALIGN_3_PRIME | chrY | 9469648 | |||||
chrY:9469674 | G | C | 1 | a0001c0004t0003 | 1 | HG02647.hp2 | 3_prime_UTR_variant | MODIFIER | c.*113G>C | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 6/6 | 113 | chrY | 9469674 | ||||||
chrY:9469701 | A | AG | 1 | a0006c0009t0004 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*145dupG | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 6/6 | 146 | INFO_REALIGN_3_PRIME | chrY | 9469701 | |||||
chrY:9469744 | CA | C | 1 | a0007c0006t0005 | 1 | NA18982.hp1 | 3_prime_UTR_variant | MODIFIER | c.*185delA | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 6/6 | 185 | INFO_REALIGN_3_PRIME | chrY | 9469744 |
view | 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:9467492 | C | T | 1 | a0008c0010t0002g0013 | 1 | NA19058.hp1 | splice_region_variant&intron_variant | LOW | c.486+6C>T | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/5 | chrY | 9467492 | |||||||
chrY:9467562 | C | T | 1 | a0003c0002t0002g0002 | 4 | HG01358.hp2 HG01515.hp1 HG02602.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+76C>T | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/5 | chrY | 9467562 | |||||||
chrY:9467583 | TG | T | 2 | a0004c0007t0001g0005 a0006c0009t0004g0004 |
2 | HG02965.hp2 NA18953.hp1 |
intron_variant | MODIFIER | c.486+101delG | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrY | 9467583 | ||||||
chrY:9467613 | G | A | 2 | a0001c0004t0002g0006 a0003c0002t0002g0002 |
5 | HG01358.hp2 HG01515.hp1 HG02602.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+127G>A | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/5 | chrY | 9467613 | |||||||
chrY:9467619 | C | T | 2 | a0001c0001t0001g0012 a0004c0007t0001g0005 |
2 | HG01106.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.486+133C>T | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/5 | chrY | 9467619 | |||||||
chrY:9467691 | A | C | 2 | a0001c0004t0002g0006 a0003c0002t0002g0002 |
5 | HG01358.hp2 HG01515.hp1 HG02602.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+205A>C | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/5 | chrY | 9467691 | |||||||
chrY:9467878 | C | T | 1 | a0008c0010t0002g0013 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.487-216C>T | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/5 | chrY | 9467878 | |||||||
chrY:9467954 | C | G | 10 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(7): Show |
13 | HG01106.hp2 HG02698.hp1 HG02738.hp1 others(10): Show |
intron_variant | MODIFIER | c.487-140C>G | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/5 | chrY | 9467954 | |||||||
chrY:9467978 | A | G | 10 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(7): Show |
13 | HG01106.hp2 HG02698.hp1 HG02738.hp1 others(10): Show |
intron_variant | MODIFIER | c.487-116A>G | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 1/5 | chrY | 9467978 | |||||||
chrY:9468180 | AG | A | 1 | a0004c0007t0001g0005 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.564+11delG | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrY | 9468180 | ||||||
chrY:9468206 | C | CG | 1 | a0001c0001t0001g0011 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.564+40dupG | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrY | 9468206 | ||||||
chrY:9468442 | A | G | 1 | a0001c0004t0003g0008 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.676+31A>G | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 3/5 | chrY | 9468442 | |||||||
chrY:9468882 | G | C | 14 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(11): Show |
21 | HG01069.hp2 HG01106.hp2 HG01358.hp2 others(18): Show |
intron_variant | MODIFIER | c.904+36G>C | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | chrY | 9468882 | |||||||
chrY:9468946 | G | GA | 1 | a0006c0009t0004g0004 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.904+103dupA | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9468946 | ||||||
chrY:9468950 | C | T | 14 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(11): Show |
21 | HG01069.hp2 HG01106.hp2 HG01358.hp2 others(18): Show |
intron_variant | MODIFIER | c.904+104C>T | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | chrY | 9468950 | |||||||
chrY:9468953 | A | AG | 1 | a0006c0009t0004g0004 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.904+109dupG | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9468953 | ||||||
chrY:9468993 | C | CAG | 14 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(11): Show |
21 | HG01069.hp2 HG01106.hp2 HG01358.hp2 others(18): Show |
intron_variant | MODIFIER | c.904+150_904+151dup others(2): Show |
TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9468993 | ||||||
chrY:9469014 | GT | G | 1 | a0004c0007t0001g0005 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.904+170delT | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9469014 | ||||||
chrY:9469025 | TG | T | 1 | a0006c0009t0004g0004 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.904+182delG | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9469025 | ||||||
chrY:9469125 | G | C | 1 | a0001c0008t0001g0009 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.904+279G>C | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | chrY | 9469125 | |||||||
chrY:9469171 | G | A | 1 | a0006c0009t0004g0004 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.904+325G>A | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | chrY | 9469171 | |||||||
chrY:9469187 | G | A | 1 | a0007c0006t0005g0010 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.904+341G>A | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | chrY | 9469187 | |||||||
chrY:9469195 | TC | T | 1 | a0004c0007t0001g0005 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.905-341delC | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9469195 | ||||||
chrY:9469341 | GT | G | 1 | a0006c0009t0004g0004 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.905-196delT | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9469341 | ||||||
chrY:9469414 | AG | A | 1 | a0006c0009t0004g0004 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.905-123delG | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9469414 | ||||||
chrY:9469467 | G | GCC | 1 | a0006c0009t0004g0004 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.905-69_905-68dupCC | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9469467 | ||||||
chrY:9469486 | T | G | 1 | a0001c0004t0003g0008 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.905-53T>G | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | chrY | 9469486 | |||||||
chrY:9469503 | GA | G | 1 | a0006c0009t0004g0004 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.905-32delA | TSPY1 | ENSG00000258992.7 | transcript | ENST00000451548.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | 9469503 |