| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MFSD6_chr2_190403355_190507314 | 190482868 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03471.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0002g0100 | 3 | 344 | 0.0087 | -17 | c.163 others(36): Show |
MFSD6 | ENSG00000151690.15 | transcript | ENST00000392328.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MFSD8_chr4_127912805_127970173 | 127966702 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02572.hp1 HG02922.hp2 |
a0004 | a0004c0004 | a0004c0004t0005a0004c0004t0010 | a0004c0004t0005g0086a0004c0004t0010g0004 | 3 | 354 | 0.0085 | -17 | c.-15 others(28): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 1530 | chr4 | TogoVar | ||||||
| MGAM2_chr7_142106718_142227324 | 142183950 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0232 | 1 | 329 | 0.0030 | -17 | c.392 others(34): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 33/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MGAT3_chr22_39452012_39497194 | 39479195 | GCCGAGTG others(10): Show |
G | intron_variant | MODIFIER | HG03704.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0137a0001c0001t0003g0167 | 2 | 306 | 0.0065 | -17 | c.-1- others(32): Show |
MGAT3 | ENSG00000128268.12 | transcript | ENST00000341184.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MGAT4B_chr5_179792610_179811866 | 179811327 | TTGCAGGG others(10): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0104 | 1 | 412 | 0.0024 | -17 | c.-47 others(28): Show |
MGAT4B | ENSG00000161013.17 | transcript | ENST00000292591.12 | protein_coding | 4462 | chr5 | TogoVar | ||||||
| MGAT4B_chr5_179792610_179811866 | 179811376 | CATGCAGG others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(200): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0015others(57): Show | 203 | 412 | 0.4927 | -17 | c.-48 others(28): Show |
MGAT4B | ENSG00000161013.17 | transcript | ENST00000292591.12 | protein_coding | 4511 | chr5 | TogoVar | ||||||
| MGAT4C_chr12_85950667_86261391 | 85987116 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0050 | 1 | 186 | 0.0054 | -17 | c.147 others(34): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
| MGAT4D_chr4_140437262_140503293 | 140485810 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 332 | 0.0030 | -17 | c.95- others(32): Show |
MGAT4D | ENSG00000205301.12 | transcript | ENST00000511113.6 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
| MGAT5B_chr17_76863404_76955393 | 76924457 | GTGGGAAG others(10): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp1 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0008 | a0002c0002t0005g0088a0002c0002t0008g0047 | 2 | 278 | 0.0072 | -17 | c.102 others(34): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 8/17 | chr17 | TogoVar | ||||||
| MGAT5B_chr17_76863404_76955393 | 76935879 | TTATATAT others(10): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0010others(22): Show | a0001c0003t0001a0001c0003t0024a0001c0003t0028others(29): Show | a0001c0003t0001g0016a0001c0003t0001g0020a0001c0003t0001g0041others(78): Show | 81 | 278 | 0.2914 | -17 | c.142 others(36): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MGAT5B_chr17_76863404_76955393 | 76949038 | CCCAGGCA others(10): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG03209.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0056others(2): Show | a0001c0001t0008a0001c0005t0008a0001c0056t0008others(2): Show | a0001c0001t0008g0108a0001c0005t0008g0265a0001c0056t0008g0109others(3): Show | 6 | 278 | 0.0216 | -17 | c.*20 others(26): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 18/18 | 202 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
| MGA_chr15_41655405_41774940 | 41657339 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02165.hp1 HG03654.hp2 others(1): Show |
a0001a0002a0020 | a0001c0001a0001c0047a0002c0002others(1): Show | a0001c0001t0002a0001c0047t0001a0002c0002t0001others(1): Show | a0001c0001t0002g0135a0001c0047t0001g0128a0002c0002t0001g0289others(1): Show | 4 | 292 | 0.0137 | -17 | c.-32 others(28): Show |
MGA | ENSG00000174197.19 | transcript | ENST00000703841.1 | protein_coding | 3065 | chr15 | TogoVar | ||||||
| MGA_chr15_41655405_41774940 | 41772622 | TAAAAAAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG02055.hp1 others(10): Show |
a0005a0007 | a0005c0005a0007c0008 | a0005c0005t0006a0005c0005t0010a0007c0008t0006 | a0005c0005t0006g0166a0005c0005t0006g0167a0005c0005t0006g0168others(10): Show | 13 | 292 | 0.0445 | -17 | c.*53 others(28): Show |
MGA | ENSG00000174197.19 | transcript | ENST00000703841.1 | protein_coding | 2683 | chr15 | TogoVar | ||||||
| MGLL_chr3_127684066_127827515 | 127686065 | TCCCTCAT others(10): Show |
T | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 314 | 0.0032 | -17 | c.*61 others(28): Show |
MGLL | ENSG00000074416.16 | transcript | ENST00000265052.10 | protein_coding | 3000 | chr3 | TogoVar | ||||||
| MGLL_chr3_127684066_127827515 | 127726168 | GAAAGAAA others(10): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 314 | 0.0032 | -17 | c.263 others(34): Show |
MGLL | ENSG00000074416.16 | transcript | ENST00000265052.10 | protein_coding | 3/7 | chr3 | TogoVar | ||||||
| MGLL_chr3_127684066_127827515 | 127726177 | AAAGAAAG others(10): Show |
A | intron_variant | MODIFIER | HG01106.hp2 NA18939.hp2 NA18946.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0263a0001c0001t0002g0190others(1): Show | 4 | 314 | 0.0127 | -17 | c.263 others(34): Show |
MGLL | ENSG00000074416.16 | transcript | ENST00000265052.10 | protein_coding | 3/7 | chr3 | TogoVar | ||||||
| MGST2_chr4_139660819_139709243 | 139697518 | TCAGCTTT others(10): Show |
T | intron_variant | MODIFIER | NA18948.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034a0001c0001t0002g0264 | 2 | 440 | 0.0046 | -17 | c.229 others(34): Show |
MGST2 | ENSG00000085871.9 | transcript | ENST00000265498.6 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
| MIA2_chr14_39228915_39355694 | 39288444 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01496.hp2 NA18940.hp1 |
a0005 | a0005c0007a0005c0017 | a0005c0007t0001a0005c0017t0001 | a0005c0007t0001g0107a0005c0017t0001g0271 | 2 | 368 | 0.0054 | -17 | c.213 others(36): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 9/28 | chr14 | TogoVar | ||||||
| MIA2_chr14_39228915_39355694 | 39288446 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG03831.hp1 NA18939.hp2 others(6): Show |
a0001a0003a0005others(2): Show | a0001c0003a0003c0004a0005c0017others(2): Show | a0001c0003t0001a0003c0004t0001a0005c0017t0001others(2): Show | a0001c0003t0001g0273a0001c0003t0001g0280a0001c0003t0001g0311others(6): Show | 9 | 368 | 0.0245 | -17 | c.213 others(36): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 9/28 | chr14 | TogoVar | ||||||
| MIA2_chr14_39228915_39355694 | 39288448 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01981.hp1 others(7): Show |
a0003a0006a0014others(2): Show | a0003c0004a0006c0005a0014c0016others(2): Show | a0003c0004t0001a0006c0005t0002a0014c0016t0002others(2): Show | a0003c0004t0001g0300a0006c0005t0002g0231a0006c0005t0002g0235others(7): Show | 10 | 368 | 0.0272 | -17 | c.213 others(36): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 9/28 | chr14 | TogoVar | ||||||
| MIA2_chr14_39228915_39355694 | 39288450 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG02735.hp1 HG02735.hp2 others(1): Show |
a0003a0006a0014 | a0003c0004a0006c0005a0014c0016 | a0003c0004t0001a0006c0005t0002a0014c0016t0002 | a0003c0004t0001g0309a0006c0005t0002g0252a0014c0016t0002g0232others(1): Show | 4 | 368 | 0.0109 | -17 | c.213 others(36): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 9/28 | chr14 | TogoVar | ||||||
| MIA2_chr14_39228915_39355694 | 39307390 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02280.hp1 others(13): Show |
a0001a0009a0030others(1): Show | a0001c0026a0009c0009a0030c0041others(1): Show | a0001c0026t0002a0009c0009t0002a0030c0041t0002others(1): Show | a0001c0026t0002g0108a0001c0026t0002g0109a0009c0009t0002g0142others(13): Show | 16 | 368 | 0.0435 | -17 | c.287 others(36): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MIB1_chr18_21735792_21875953 | 21738806 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0016 | 1 | 308 | 0.0033 | -17 | c.-27 others(28): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 1985 | chr18 | TogoVar | ||||||
| MIB1_chr18_21735792_21875953 | 21793781 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 308 | 0.0033 | -17 | c.109 others(36): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| MIB1_chr18_21735792_21875953 | 21840651 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0083a0001c0001t0009g0095 | 2 | 308 | 0.0065 | -17 | c.196 others(36): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| MIB1_chr18_21735792_21875953 | 21840653 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02965.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028 | a0001c0001t0009g0096a0001c0001t0009g0098a0001c0001t0009g0102others(1): Show | 4 | 308 | 0.0130 | -17 | c.196 others(36): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| MIB2_chr1_1610500_1635605 | 1630221 | CCCCCGCA others(10): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0002a0002c0010t0002 | a0001c0001t0002g0126a0002c0010t0002g0115 | 2 | 412 | 0.0049 | -17 | c.263 others(32): Show |
MIB2 | ENSG00000197530.13 | transcript | ENST00000355826.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MICAL2_chr11_12105590_12268785 | 12251072 | AGTAAGTG others(10): Show |
A | intron_variant | MODIFIER | HG02723.hp1 NA20300.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0003a0001c0004t0003g0115 | 2 | 358 | 0.0056 | -17 | c.284 others(36): Show |
MICAL2 | ENSG00000133816.19 | transcript | ENST00000683283.1 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MICAL3_chr22_17782649_18029561 | 17880631 | CGCCTGCT others(10): Show |
C | intron_variant | MODIFIER | HG03453.hp2 NA18522.hp1 NA19240.hp2 |
a0001a0002a0012 | a0001c0024a0002c0005a0012c0023 | a0001c0024t0003a0002c0005t0005a0012c0023t0002 | a0001c0024t0003g0238a0002c0005t0005g0251a0012c0023t0002g0025 | 3 | 274 | 0.0110 | -17 | c.224 others(36): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17953930 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 274 | 0.0037 | -17 | c.-74 others(36): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 1/31 | chr22 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17980742 | TCCGTCTT others(10): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0004 | a0004c0022 | a0004c0022t0001 | a0004c0022t0001g0222 | 1 | 274 | 0.0037 | -17 | c.-75 others(36): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 1/31 | chr22 | TogoVar | ||||||
| MICU2_chr13_21487691_21609170 | 21498369 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0313a0001c0001t0003g0040a0001c0001t0003g0138others(4): Show | 7 | 316 | 0.0222 | -17 | c.934 others(34): Show |
MICU2 | ENSG00000165487.14 | transcript | ENST00000382374.9 | protein_coding | 9/11 | chr13 | TogoVar | ||||||
| MICU3_chr8_17022238_17127642 | 17053184 | GGTAAGGT others(10): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 374 | 0.0027 | -17 | c.382 others(36): Show |
MICU3 | ENSG00000155970.12 | transcript | ENST00000318063.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MID1_chrX_10440556_10625585 | 10618069 | CAATTTCT others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG03710.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0012 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0002t0012g0011 | 3 | 165 | 0.0182 | -17 | c.-57 others(34): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 1/9 | chrX | TogoVar | ||||||
| MIF4GD_chr17_75261228_75276231 | 75274973 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02165.hp2 NA18951.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0037 | 4 | 336 | 0.0119 | -17 | c.-38 others(28): Show |
MIF4GD | ENSG00000125457.15 | transcript | ENST00000325102.13 | protein_coding | 3743 | chr17 | TogoVar | ||||||
| MIIP_chr1_12014498_12037045 | 12018934 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0126a0001c0001t0002g0006others(1): Show | 5 | 414 | 0.0121 | -17 | c.-70 others(26): Show |
MIIP | ENSG00000116691.11 | transcript | ENST00000235332.6 | protein_coding | 563 | chr1 | TogoVar | ||||||
| MINAR1_chr15_79427336_79477304 | 79471614 | TCTGTGCC others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02258.hp1 NA18522.hp2 |
a0004 | a0004c0009 | a0004c0009t0045a0004c0009t0047 | a0004c0009t0045g0182a0004c0009t0047g0197 | 2 | 390 | 0.0051 | -17 | c.*32 others(28): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 4/4 | 3231 | chr15 | TogoVar | |||||
| MINAR2_chr5_129743094_129771732 | 129766652 | AAAAACAA others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0157 | 1 | 434 | 0.0023 | -17 | c.*15 others(28): Show |
MINAR2 | ENSG00000186367.7 | transcript | ENST00000564719.2 | protein_coding | 3/3 | 1594 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| MINDY2_chr15_58766302_58866900 | 58852955 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158 | 1 | 384 | 0.0026 | -17 | c.173 others(35): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
| MINDY2_chr15_58766302_58866900 | 58863052 | TATGTGTT others(10): Show |
T | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 384 | 0.0026 | -17 | c.*84 others(28): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 1153 | chr15 | TogoVar | ||||||
| MINDY4_chr7_30766417_30897387 | 30877822 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02698.hp1 NA19077.hp1 |
a0004a0006 | a0004c0010a0006c0005 | a0004c0010t0001a0006c0005t0001 | a0004c0010t0001g0048a0006c0005t0001g0195 | 2 | 300 | 0.0067 | -17 | c.197 others(36): Show |
MINDY4 | ENSG00000106125.14 | transcript | ENST00000265299.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MINPP1_chr10_87499893_87558461 | 87524954 | AAAATGTG others(10): Show |
A | intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 412 | 0.0024 | -17 | c.106 others(36): Show |
MINPP1 | ENSG00000107789.16 | transcript | ENST00000371996.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MINPP1_chr10_87499893_87558461 | 87530515 | CTGCAGAA others(10): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00741.hp2 others(35): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0002a0004c0003t0001 | a0001c0001t0001g0022a0001c0001t0001g0046a0001c0001t0001g0047others(30): Show | 38 | 412 | 0.0922 | -17 | c.106 others(36): Show |
MINPP1 | ENSG00000107789.16 | transcript | ENST00000371996.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MIOX_chr22_50481859_50495648 | 50482729 | CCCCCGAA others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18941.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0002g0002 | 2 | 436 | 0.0046 | -17 | c.-41 others(28): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4129 | chr22 | TogoVar | ||||||
| MKLN1_chr7_131322876_131501632 | 131376123 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG03041.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0003t0008 | a0001c0001t0003g0191a0001c0001t0003g0192a0001c0001t0004g0069others(1): Show | 4 | 320 | 0.0125 | -17 | c.168 others(32): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MKLN1_chr7_131322876_131501632 | 131411906 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 320 | 0.0031 | -17 | c.781 others(32): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MKLN1_chr7_131322876_131501632 | 131439863 | TAAACACA others(10): Show |
T | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0193 | 1 | 320 | 0.0031 | -17 | c.117 others(36): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 10/17 | chr7 | TogoVar | ||||||
| MKLN1_chr7_131322876_131501632 | 131439864 | AAACACAC others(10): Show |
A | intron_variant | MODIFIER | NA18947.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0099a0001c0001t0006g0135 | 2 | 320 | 0.0063 | -17 | c.117 others(36): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MKNK1_chr1_46552407_46609268 | 46585249 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01496.hp2 NA18944.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210a0001c0001t0002g0211a0001c0001t0002g0220 | 3 | 346 | 0.0087 | -17 | c.-2- others(32): Show |
MKNK1 | ENSG00000079277.22 | transcript | ENST00000371945.10 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
| MKRN1_chr7_140448033_140484505 | 140469627 | TGTGGGCC others(10): Show |
T | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 434 | 0.0023 | -17 | c.314 others(34): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 2/7 | chr7 | TogoVar |