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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2728): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0106a0001c0001t0001g0109others(1): Show | 4 | 342 | 0.0117 | 2735 | c.573 others(2752): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2728): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 342 | 0.0029 | 2735 | c.573 others(2752): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2728): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 342 | 0.0029 | 2735 | c.573 others(2752): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
DUS2_chr16_68018284_68084320 | 68035687 | T | TCCCTCTT others(2728): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 234 | 0.0043 | 2735 | c.-18 others(2752): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2728): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2735 | c.-17 others(2746): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2728): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0184a0003c0003t0014g0185 | 2 | 292 | 0.0069 | 2735 | c.218 others(2750): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2728): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 322 | 0.0031 | 2735 | c.178 others(2752): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246071948 | T | TTCCTGTT others(2728): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0105 | 1 | 150 | 0.0067 | 2735 | c.532 others(2756): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2728): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 272 | 0.0037 | 2735 | c.389 others(2754): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VWA8_chr13_41561835_41966109 | 41649589 | T | TGATCATT others(2728): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0008 | a0008c0025 | a0008c0025t0002 | a0008c0025t0002g0009 | 1 | 250 | 0.0040 | 2735 | c.461 others(2756): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294546 | T | TCAGCCAC others(2728): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 404 | 0.0025 | 2735 | c.340 others(2752): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2729): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 342 | 0.0029 | 2736 | c.573 others(2753): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2729): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0199 | 2 | 342 | 0.0059 | 2736 | c.573 others(2753): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2729): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 342 | 0.0029 | 2736 | c.573 others(2753): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2729): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 342 | 0.0029 | 2736 | c.573 others(2753): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2729): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0104a0001c0001t0001g0110a0001c0001t0001g0113others(15): Show | 18 | 342 | 0.0526 | 2736 | c.573 others(2753): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2729): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 342 | 0.0029 | 2736 | c.573 others(2753): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(2729): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0065 | 1 | 104 | 0.0096 | 2736 | c.830 others(2753): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2729): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 345 | 0.0029 | 2736 | c.*17 others(2747): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2729): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 421 | 0.0024 | 2736 | c.*22 others(2747): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2729): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 314 | 0.0032 | 2736 | c.-25 others(2753): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2729): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 314 | 0.0032 | 2736 | c.-25 others(2753): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LRCH3_chr3_197786254_197893436 | 197877547 | C | CTCACCGC others(2729): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0075 | 1 | 292 | 0.0034 | 2736 | c.220 others(2755): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(2729): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 56 | 0.0179 | 2736 | c.209 others(2751): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2729): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0155 | 1 | 214 | 0.0047 | 2736 | c.206 others(2755): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(2729): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0213a0001c0001t0003g0215 | 2 | 404 | 0.0050 | 2736 | c.340 others(2753): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2730): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 342 | 0.0029 | 2737 | c.573 others(2754): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2730): Show |
intron_variant | MODIFIER | HG00733.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0316 | 2 | 342 | 0.0059 | 2737 | c.573 others(2754): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2730): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02004.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0198a0001c0001t0001g0211 | 3 | 342 | 0.0088 | 2737 | c.573 others(2754): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2730): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 342 | 0.0029 | 2737 | c.573 others(2754): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2730): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03710.hp1 NA18747.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0067a0001c0001t0001g0178others(4): Show | 7 | 342 | 0.0205 | 2737 | c.573 others(2754): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2730): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 342 | 0.0029 | 2737 | c.573 others(2754): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2730): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0033a0001c0001t0012g0053 | 2 | 158 | 0.0127 | 2737 | c.284 others(2756): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144288550 | T | TTTGATTC others(2730): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0017 | a0004c0017t0024 | a0004c0017t0024g0126 | 1 | 128 | 0.0078 | 2737 | c.-93 others(2754): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2731): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0233 | 1 | 418 | 0.0024 | 2738 | c.96+ others(2753): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2731): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0146 | 1 | 342 | 0.0029 | 2738 | c.578 others(2751): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2731): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0159 | 1 | 342 | 0.0029 | 2738 | c.578 others(2751): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2731): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210 | 1 | 342 | 0.0029 | 2738 | c.578 others(2751): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2731): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0163 | 1 | 342 | 0.0029 | 2738 | c.578 others(2751): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2731): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01257.hp1 HG01496.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016a0002c0002t0002g0193a0002c0002t0002g0215 | 5 | 342 | 0.0146 | 2738 | c.578 others(2751): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2731): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0176 | 1 | 342 | 0.0029 | 2738 | c.578 others(2751): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2731): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0149 | 1 | 342 | 0.0029 | 2738 | c.578 others(2751): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2731): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 334 | 0.0030 | 2738 | c.147 others(2755): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 342 | 0.0029 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 342 | 0.0029 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 342 | 0.0029 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 342 | 0.0029 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 342 | 0.0029 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63768396 | T | TAAAAATT others(2731): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200 | 1 | 352 | 0.0028 | 2738 | c.-19 others(2755): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2731): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 298 | 0.0034 | 2738 | c.126 others(2755): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |