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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRPS9_chr2_105033069_105104960 | 105084247 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18979.hp2 NA18986.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0172a0001c0001t0001g0181others(3): Show | 7 | 394 | 0.0178 | 20 | c.489 others(37): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRPS9_chr2_105033069_105104960 | 105087800 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0030a0001c0001t0001g0031others(30): Show | 44 | 394 | 0.1117 | 20 | c.490 others(37): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40455803 | A | AGTATGTA others(13): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18970.hp2 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039a0001c0001t0002g0052a0001c0001t0002g0057others(1): Show | 4 | 256 | 0.0156 | 20 | c.307 others(37): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 4/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40457436 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19068.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0001 | a0001c0003t0001g0189a0001c0008t0001g0094 | 2 | 256 | 0.0078 | 20 | c.307 others(37): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 4/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40459822 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 256 | 0.0039 | 20 | c.307 others(37): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 4/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40459830 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02109.hp1 HG03098.hp2 |
a0001 | a0001c0002a0001c0004a0001c0020 | a0001c0002t0001a0001c0004t0010a0001c0020t0001 | a0001c0002t0001g0107a0001c0004t0010g0256a0001c0020t0001g0253 | 3 | 256 | 0.0117 | 20 | c.307 others(37): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 4/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40470231 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0119 | 1 | 256 | 0.0039 | 20 | c.242 others(37): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40470262 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 256 | 0.0039 | 20 | c.242 others(37): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40617184 | A | AGGAGGGA others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0139 | 1 | 256 | 0.0039 | 20 | c.-84 others(39): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 1/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40626866 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 256 | 0.0039 | 20 | c.-84 others(37): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 1/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFB_chr16_14066319_14271773 | 14243864 | G | GTTTGTTT others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0012 | a0001c0001t0006g0216a0001c0001t0006g0217a0001c0001t0007g0209others(3): Show | 6 | 240 | 0.0250 | 20 | c.108 others(39): Show |
MRTFB | ENSG00000186260.17 | transcript | ENST00000571589.6 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MRTFB_chr16_14066319_14271773 | 14243864 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02040.hp2 HG02083.hp2 others(30): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0005 | a0001c0001t0010a0001c0001t0017a0001c0002t0001others(4): Show | a0001c0001t0010g0229a0001c0001t0017g0225a0001c0002t0001g0206others(29): Show | 33 | 240 | 0.1375 | 20 | c.108 others(39): Show |
MRTFB | ENSG00000186260.17 | transcript | ENST00000571589.6 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MS4A13_chr11_60510392_60547721 | 60522231 | G | GATGTATA others(13): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18979.hp2 |
a0002a0003 | a0002c0003a0003c0007 | a0002c0003t0001a0003c0007t0001 | a0002c0003t0001g0205a0003c0007t0001g0204 | 2 | 422 | 0.0047 | 20 | c.130 others(37): Show |
MS4A13 | ENSG00000204979.8 | transcript | ENST00000378186.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MS4A13_chr11_60510392_60547721 | 60527410 | C | CTCTGTGT others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 422 | 0.0024 | 20 | c.307 others(37): Show |
MS4A13 | ENSG00000204979.8 | transcript | ENST00000378186.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MS4A18_chr11_60719720_60750028 | 60726717 | C | CTTTTATT others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03225.hp2 HG06807.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0008 | a0001c0001t0001g0021a0001c0001t0001g0077a0001c0001t0001g0078others(2): Show | 9 | 416 | 0.0216 | 20 | c.-13 others(37): Show |
MS4A18 | ENSG00000214782.8 | transcript | ENST00000529108.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MS4A4E_chr11_60195270_60248137 | 60232284 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00741.hp2 others(20): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0029a0001c0001t0001g0096others(15): Show | 23 | 410 | 0.0561 | 20 | c.-16 others(37): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
MS4A5_chr11_60424572_60452792 | 60447307 | G | GTGCTATG others(13): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18946.hp1 NA18953.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0065a0001c0001t0001g0167others(2): Show | 12 | 462 | 0.0260 | 20 | c.493 others(35): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MS4A5_chr11_60424572_60452792 | 60447429 | G | GCTATGCT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0160a0001c0001t0001g0165others(2): Show | 7 | 462 | 0.0152 | 20 | c.493 others(35): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MSANTD4_chr11_106002899_106027240 | 106022839 | A | ATTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01515.hp2 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0001a0001c0001t0030g0100 | 3 | 384 | 0.0078 | 20 | c.-20 others(31): Show |
MSANTD4 | ENSG00000170903.12 | transcript | ENST00000301919.9 | protein_coding | 600 | chr11 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47400302 | T | TGGCCAGG others(13): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 370 | 0.0027 | 20 | c.-28 others(31): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 2853 | chr2 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47413548 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01515.hp2 HG01517.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0135a0001c0001t0001g0148a0001c0001t0001g0149others(8): Show | 11 | 370 | 0.0297 | 20 | c.793 others(35): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSH2_chr2_47398156_47488223 | 47461912 | T | TTTTTCTT others(13): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 370 | 0.0027 | 20 | c.138 others(39): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSH2_chr2_47398156_47488223 | 47461966 | T | TCTTTTCT others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0068a0001c0001t0001g0073 | 3 | 370 | 0.0081 | 20 | c.138 others(39): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSH2_chr2_47398156_47488223 | 47461966 | T | TCTTTTCT others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 370 | 0.0027 | 20 | c.138 others(39): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSH2_chr2_47398156_47488223 | 47461966 | T | TCTTTTCT others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01258.hp2 HG01978.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0072others(6): Show | 9 | 370 | 0.0243 | 20 | c.138 others(39): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80692070 | A | ATAGATAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0007 | a0007c0008 | a0007c0008t0027 | a0007c0008t0027g0031 | 1 | 362 | 0.0028 | 20 | c.134 others(41): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80692094 | A | ATAGATAA others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 362 | 0.0028 | 20 | c.134 others(41): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80692122 | A | ATAGATAA others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049a0001c0001t0002g0067a0001c0001t0002g0068others(6): Show | 9 | 362 | 0.0249 | 20 | c.134 others(41): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80692150 | A | ATAGATAA others(13): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 362 | 0.0028 | 20 | c.134 others(41): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80692250 | A | ATAGATAA others(13): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02129.hp1 HG03831.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0065a0001c0001t0002g0080a0001c0001t0002g0082others(3): Show | 6 | 362 | 0.0166 | 20 | c.134 others(41): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80692328 | A | ATAGATAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19043.hp2 |
a0007 | a0007c0008 | a0007c0008t0005a0007c0008t0027 | a0007c0008t0005g0016a0007c0008t0027g0031 | 2 | 362 | 0.0055 | 20 | c.134 others(41): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80729430 | A | AAGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 362 | 0.0028 | 20 | c.156 others(37): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 10/23 | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80750078 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01993.hp2 HG02280.hp1 others(4): Show |
a0002a0007a0034 | a0002c0003a0007c0008a0034c0030 | a0002c0003t0003a0002c0003t0014a0002c0003t0031others(2): Show | a0002c0003t0003g0193a0002c0003t0003g0200a0002c0003t0003g0204others(4): Show | 7 | 362 | 0.0193 | 20 | c.176 others(39): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80762790 | T | TTTATGTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02922.hp1 NA19030.hp1 |
a0002a0005a0013 | a0002c0003a0005c0006a0013c0011 | a0002c0003t0030a0005c0006t0003a0013c0011t0005 | a0002c0003t0030g0195a0005c0006t0003g0354a0013c0011t0005g0029 | 3 | 362 | 0.0083 | 20 | c.189 others(39): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80762790 | T | TTTATTTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00609.hp2 others(17): Show |
a0003a0007a0022others(2): Show | a0003c0004a0007c0008a0007c0035others(3): Show | a0003c0004t0004a0003c0004t0021a0003c0004t0024others(5): Show | a0003c0004t0004g0231a0003c0004t0004g0233a0003c0004t0004g0234others(17): Show | 20 | 362 | 0.0553 | 20 | c.189 others(39): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80762825 | G | GTTATGTT others(13): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02083.hp1 HG02451.hp2 others(6): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0005 | a0001c0002t0001a0001c0002t0006a0002c0003t0003others(1): Show | a0001c0002t0001g0134a0001c0002t0001g0142a0001c0002t0001g0147others(6): Show | 9 | 362 | 0.0249 | 20 | c.189 others(39): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80784212 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01952.hp1 HG01981.hp1 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095a0001c0002t0001g0096a0001c0002t0001g0097others(14): Show | 17 | 362 | 0.0470 | 20 | c.243 others(39): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80808858 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01891.hp1 HG02015.hp1 others(4): Show |
a0003a0008a0015 | a0003c0004a0008c0010a0015c0021 | a0003c0004t0004a0003c0004t0021a0008c0010t0009others(1): Show | a0003c0004t0004g0240a0003c0004t0004g0254a0003c0004t0004g0345others(4): Show | 7 | 362 | 0.0193 | 20 | c.265 others(39): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80808873 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0028 | a0028c0034 | a0028c0034t0005 | a0028c0034t0005g0180 | 1 | 362 | 0.0028 | 20 | c.265 others(39): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80810168 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0034 | a0034c0030 | a0034c0030t0009 | a0034c0030t0009g0219 | 1 | 362 | 0.0028 | 20 | c.265 others(39): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80810172 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02055.hp1 HG03579.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0002t0005a0002c0003t0003others(1): Show | a0001c0001t0005g0025a0001c0002t0005g0037a0002c0003t0003g0187others(4): Show | 7 | 362 | 0.0193 | 20 | c.265 others(39): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75854007 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02148.hp1 HG04204.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0081a0005c0006t0001g0082 | 2 | 332 | 0.0060 | 20 | c.123 others(39): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75854011 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 HG06807.hp2 NA18977.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0086a0002c0003t0001g0091a0002c0003t0001g0108others(1): Show | 4 | 332 | 0.0121 | 20 | c.123 others(39): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75854013 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03491.hp2 NA20752.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0195a0001c0001t0001g0201a0002c0003t0001g0129 | 3 | 332 | 0.0090 | 20 | c.123 others(39): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75885051 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03130.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036a0001c0002t0001g0042a0001c0002t0001g0043 | 3 | 332 | 0.0090 | 20 | c.210 others(39): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75885059 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0177 | 1 | 332 | 0.0030 | 20 | c.210 others(39): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75907684 | C | CTCTCTAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(19): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003a0002c0003t0001g0085a0002c0003t0001g0089others(19): Show | 22 | 332 | 0.0663 | 20 | c.262 others(39): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH5_chr6_31735005_31767676 | 31746080 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01074.hp2 others(23): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0004a0001c0002t0001g0012a0001c0002t0001g0021others(14): Show | 26 | 397 | 0.0655 | 20 | c.766 others(35): Show |
MSH5 | ENSG00000204410.16 | transcript | ENST00000375750.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MSH6_chr2_47778145_47811953 | 47788906 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18977.hp2 NA19089.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0205a0002c0003t0001g0207 | 2 | 390 | 0.0051 | 20 | c.261 others(37): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
MSH6_chr2_47778145_47811953 | 47788906 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0318 | 1 | 390 | 0.0026 | 20 | c.261 others(37): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | chr2 | TogoVar |