Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18963.hp2 HG02074.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0153 a0001c0002t0003g0002 a0001c0002t0003g0153	2	54	0.0370	28	c.-28 others(39): Show c.-2803_-2802insTATATATATATATTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAMD11_chr1_918923_949574	933959	A A	ACTGCTCC others(21): Show ACTGCTCCGTTACAGGTGGGCAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02723.hp1 HG01099.hp2 HG02723.hp1	a0001 a0004 a0001 a0004	a0001c0019 a0004c0008 a0001c0019 a0004c0008	a0001c0019t0006 a0004c0008t0017 a0001c0019t0006 a0004c0008t0017	a0001c0019t0006g0265 a0004c0008t0017g0355 a0001c0019t0006g0265 a0004c0008t0017g0355	2	432	0.0046	28	c.843 others(45): Show c.843-1811_843-1784dupTGCTCCGTTACAGGTGGGCAGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	933980	A A	AGGGGAGG others(21): Show AGGGGAGGCTGCTCCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0006 a0019c0030t0006	a0019c0030t0006g0298 a0019c0030t0006g0298	1	427	0.0023	28	c.843 others(45): Show c.843-1784_843-1783insTGCTCCGTTACAGGTGGGCGGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934021	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCTGCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG03139.hp1 HG02109.hp1 HG02970.hp2 HG03139.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0273 a0006c0007t0008g0274 a0006c0007t0008g0275 a0006c0007t0008g0273 a0006c0007t0008g0274 a0006c0007t0008g0275	3	92	0.0326	28	c.843 others(45): Show c.843-1737_843-1736insGGGGGAGGCTGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934045	G G	TGCTCCGT others(21): Show TGCTCCGTTACAGGTGGGCAGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0283 a0008c0013t0002g0283	1	423	0.0024	28	c.843 others(45): Show c.843-1728_843-1727insTGCTCCGTTACAGGTGGGCAGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SAMD11_chr1_918923_949574	934049	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCTGCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	405	0.0025	28	c.843 others(45): Show c.843-1709_843-1708insGGGGGAGGCTGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934069	A A	AGGCTGCT others(21): Show AGGCTGCTCCGTTACAGGTGGGCAGGGGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18993.hp2 NA19005.hp2 HG02083.hp1 NA18993.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210	3	421	0.0071	28	c.843 others(45): Show c.843-1700_843-1699insTGCTCCGTTACAGGTGGGCAGGGGGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934092	A A	AGGGGGGG others(21): Show AGGGGGGGCGGCTCCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0253 a0002c0003t0004g0253	1	326	0.0031	28	c.843 others(45): Show c.843-1676_843-1675insGGGCGGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934120	A A	AGGGGGGG others(21): Show AGGGGGGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp2 HG02071.hp2 HG02165.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0234 a0002c0003t0004g0238 a0002c0003t0004g0234 a0002c0003t0004g0238	2	360	0.0056	28	c.843 others(45): Show c.843-1648_843-1647insGGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934133	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0176 a0001c0009t0003g0176	1	408	0.0025	28	c.843 others(45): Show c.843-1625_843-1624insGGGGGGGGCGGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934133	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0203 a0001c0001t0029g0203	1	408	0.0025	28	c.843 others(45): Show c.843-1625_843-1624insGGGGGGGGCTGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934217	C C	CCGTTACA others(21): Show CCGTTACAGGTGGGCGGGGGAGGCGGCTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp1 HG02647.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0293 a0001c0002t0007g0294 a0001c0002t0007g0293 a0001c0002t0007g0294	2	316	0.0063	28	c.843 others(45): Show c.843-1541_843-1540insGGGGGAGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934273	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19005.hp2 HG02922.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0003 a0001c0019t0006 a0001c0001t0003 a0001c0019t0006	a0001c0001t0003g0209 a0001c0019t0006g0278 a0001c0001t0003g0209 a0001c0019t0006g0278	2	413	0.0048	28	c.843 others(45): Show c.843-1485_843-1484insGGGGGGGGCGGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934273	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	412	0.0024	28	c.843 others(45): Show c.843-1485_843-1484insGGGGGGGGCTGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934301	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0186 a0003c0006t0003g0186	1	404	0.0025	28	c.843 others(45): Show c.843-1452_843-1451insGGGCGGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934349	A A	AGGCGGCT others(21): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19064.hp2 NA19002.hp1 NA19064.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0304 a0001c0009t0010g0305 a0001c0009t0010g0304 a0001c0009t0010g0305	2	372	0.0054	28	c.843 others(45): Show c.843-1401_843-1400insGGGGGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934385	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCTGCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	401	0.0025	28	c.843 others(45): Show c.843-1364_843-1363insTGCTCCGTTACAGGTGGGCGGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934392	A A	AGGTGGGC others(21): Show AGGTGGGCGGGGGAGGCGGCTGCGTTACT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	431	0.0023	28	c.843 others(45): Show c.843-1353_843-1352insTGGTGGGCGGGGGAGGCGGCTGCGTTAC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934413	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp1 HG02647.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0293 a0001c0002t0007g0294 a0001c0002t0007g0293 a0001c0002t0007g0294	2	407	0.0049	28	c.843 others(45): Show c.843-1331_843-1304dupCCGTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934441	C C	CCGTTACA others(21): Show CCGTTACAGGTGGGCGGGGGGGGCGGCTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA20129.hp2 HG00639.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0024 a0001c0001 a0007c0024	a0001c0001t0003 a0007c0024t0003 a0001c0001t0003 a0007c0024t0003	a0001c0001t0003g0154 a0007c0024t0003g0206 a0001c0001t0003g0154 a0007c0024t0003g0206	2	321	0.0062	28	c.843 others(45): Show c.843-1312_843-1311insGGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934456	G G	GGGGGAGG others(21): Show GGGGGAGGCGGCTGCGTTACAGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	426	0.0023	28	c.843 others(45): Show c.843-1292_843-1291insTGCAGGGGAGGCGGCTGCGTTACAGGTG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934461	A A	AGGCGGCT others(21): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0161 a0001c0001t0003g0162	2	381	0.0052	28	c.843 others(45): Show c.843-1284_843-1283insGGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934489	A A	AGGCGGCT others(21): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	392	0.0026	28	c.843 others(45): Show c.843-1255_843-1228dupGGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934489	A A	AGTCGGCT others(21): Show AGTCGGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	392	0.0026	28	c.843 others(45): Show c.843-1282_843-1281insTCGGCTGCGTTACAGGTGGGCGGGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934497	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	404	0.0025	28	c.843 others(45): Show c.843-1256_843-1255insAGGCGGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934517	G G	GGCGGCTG others(21): Show GGCGGCTGCGTTACAGGTGGGCAGGGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0319 a0001c0002t0009g0319	1	355	0.0028	28	c.843 others(45): Show c.843-1254_843-1253insCGGCTGCGTTACAGGTGGGCAGGGGGAG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934553	C C	CCGTTACA others(21): Show CCGTTACAGGTGGGCAGGGGAGGCGGCTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp2 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0316 a0001c0002t0009g0317 a0001c0002t0009g0316 a0001c0002t0009g0317	2	331	0.0060	28	c.843 others(45): Show c.843-1205_843-1204insAGGGGAGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934553	C C	CCGTTACA others(21): Show CCGTTACAGGTGGGCGGGGGGGGCGGCTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0265 a0001c0019t0006g0265	1	330	0.0030	28	c.843 others(45): Show c.843-1200_843-1199insGGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934637	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0192 a0001c0001t0013g0192	1	416	0.0024	28	c.843 others(45): Show c.843-1116_843-1115insGGGCGGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934637	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	416	0.0024	28	c.843 others(45): Show c.843-1116_843-1115insGGGCTGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934649	G G	GGCGGGGG others(21): Show GGCGGGGGGGGCGGCTCCGTTACAGGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0282 a0008c0013t0002g0282	1	431	0.0023	28	c.843 others(45): Show c.843-1116_843-1115insGGGCGGCTCCGTTACAGGTGTGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934713	A A	AGGCGGCT others(21): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	375	0.0027	28	c.843 others(45): Show c.843-1032_843-1031insGGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934721	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCTGCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	409	0.0024	28	c.843 others(45): Show c.843-1028_843-1027insTGCTCCGTTACAGGTGGGCGGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934761	G G	GGCGGGGG others(21): Show GGCGGGGGGGGCGGCTCCGTTACAGGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0283 a0008c0013t0002g0283	1	419	0.0024	28	c.843 others(45): Show c.843-1009_843-1008insGGGGGGGGCGGCTCCGTTACAGGTGTGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934797	A A	AGGCTGCT others(21): Show AGGCTGCTCCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	374	0.0027	28	c.843 others(43): Show c.843-972_843-971insTGCTCCGTTACAGGTGGGCGGGGGGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934833	C C	CCGTTACA others(21): Show CCGTTACAGGTGGGCGGGGGAGGCGGCTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	293	0.0034	28	c.843 others(43): Show c.843-863_843-836dupAGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934861	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01943.hp2 HG02602.hp1 others(1): Show HG01081.hp1 HG01943.hp2 HG02602.hp1 NA19066.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0003 a0001c0001t0003 a0003c0006t0003	a0001c0001t0003g0189 a0001c0001t0003g0194 a0001c0001t0003g0196 others(1): Show a0001c0001t0003g0189 a0001c0001t0003g0194 a0001c0001t0003g0196 a0003c0006t0003g0188	4	386	0.0104	28	c.843 others(43): Show c.843-892_843-891insGGGCTGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934876	G G	GGGGGGGG others(21): Show GGGGGGGGCTGCTCCGTTACAGGTGGGCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0320 a0001c0011t0002g0320	1	397	0.0025	28	c.843 others(43): Show c.843-892_843-891insGGGCTGCTCCGTTACAGGTGGGCAGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934889	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02895.hp1 HG06807.hp1 HG01069.hp2 HG02895.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0007 a0001c0010t0007 a0001c0002t0007 a0001c0010t0007	a0001c0002t0007g0294 a0001c0010t0007g0290 a0001c0010t0007g0291 a0001c0002t0007g0294 a0001c0010t0007g0290 a0001c0010t0007g0291	3	416	0.0072	28	c.843 others(43): Show c.843-856_843-855insCCGTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934937	G G	GGGCGGCT others(21): Show GGGCGGCTCCGTTACAGGTGGGCAGGGGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0285 a0007c0016t0002g0285	1	46	0.0217	28	c.843 others(43): Show c.843-828_843-827insCCGTTACAGGTGGGCAGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934937	G G	GGGCGGCT others(21): Show GGGCGGCTGCGTTACAGGTGGGCAGGGGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02004.hp1 HG02273.hp1 HG01981.hp2 HG02004.hp1 HG02273.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0012 a0002c0003t0004g0012	3	48	0.0625	28	c.843 others(43): Show c.843-813_843-812insAGGGGAGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934937	G G	GGGCGGCT others(21): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	46	0.0217	28	c.843 others(43): Show c.843-810_843-809insGGAGGCGGCTGCGTTACAGGTGGGCGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934945	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	427	0.0023	28	c.843 others(43): Show c.843-810_843-809insGGAGGCGGCTCCGTTACAGGTGGGCGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934945	G G	GCGTTACA others(21): Show GCGTTACAGGTGGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG01255.hp2 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0022 a0002c0003t0004g0022	2	428	0.0047	28	c.843 others(43): Show c.843-810_843-809insGGGGGCTGCTCCGTTACAGGTGGGCGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118469516	A A	AATATTAT others(21): Show AATATTATATTATTATATATATATAATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	159	0.0063	28	c.193 others(47): Show c.193-29556_193-29555insATATTATATATATATAATAATATAAT AT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD3_chr6_130139315_130227951	130153647	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG04115.hp2 NA19010.hp1 HG00544.hp2 HG04115.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0220 a0001c0001t0001g0325 a0001c0001t0001g0153 a0001c0001t0001g0220 a0001c0001t0001g0325	3	184	0.0163	28	c.102 others(47): Show c.1023+1177_1023+1178insATATATATATATATATATATATATAT AT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(21): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19082.hp1 NA18947.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0237 a0002c0003t0001g0078 a0001c0001t0002g0237 a0002c0003t0001g0078	2	63	0.0317	28	c.716 others(47): Show c.716-13000_716-12973dupGGAAGGAAGGAAGGAAGGAAGGAAGG AA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGATGGA others(21): Show TGGATGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0219 a0001c0001t0015g0219	1	62	0.0161	28	c.716 others(47): Show c.716-13014_716-13013insTGGAAGGAAGGAAGGAAGGAAGGAAG GA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03130.hp2 NA20805.hp2 HG01123.hp2 HG03130.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0004g0125 a0001c0001t0004g0127 a0001c0001t0004g0129	3	66	0.0455	28	c.-15 others(45): Show c.-15-2143_-15-2142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMD8_chr10_75106656_75187123	75186198	A A	ACAAGCCC others(21): Show ACAAGCCCAAATCCTGTACCAGCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0121 a0001c0003t0007g0121	1	322	0.0031	28	c.95 others(39): Show c.9506_*9507insCAAGCCCAAATCCTGTACCAGCCCCACC	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding		4076		chr10	TogoVar

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