Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SGSM2_chr17_2332501_2386054	2356429	TGGGGGCA others(44): Show TGGGGGCAGGGGCCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(28): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00733.hp1 HG01106.hp2 HG01346.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG02698.hp2 HG03669.hp1 HG03688.hp2 HG04199.hp1 HG04204.hp2 NA18946.hp1 NA18951.hp2 NA18957.hp2 NA18978.hp1 NA18984.hp1 NA18992.hp2 NA18993.hp2 NA19009.hp1 NA19012.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2	a0001 a0004 a0013 others(1): Show a0001 a0004 a0013 a0023	a0001c0001 a0001c0032 a0004c0010 others(2): Show a0001c0001 a0001c0032 a0004c0010 a0013c0030 a0023c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0032t0001 a0004c0010t0001 a0013c0030t0024 a0023c0018t0001	a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0138 others(28): Show a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0229 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0329 a0001c0001t0001g0394 a0001c0001t0002g0238 a0001c0001t0003g0204 a0001c0001t0003g0254 a0001c0001t0007g0164 a0001c0001t0008g0210 a0001c0001t0011g0116 a0001c0032t0001g0188 a0004c0010t0001g0117 a0013c0030t0024g0149 a0023c0018t0001g0114	31	422	0.0735	-51	c.134 others(68): Show c.134-5203_134-5153delGCAGGGGCCCCATATCTTAAAATGGTGG AATCGGGGTGTAAGGGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356529	TGGGGGAA others(44): Show TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	422	0.0024	-51	c.134 others(68): Show c.134-5103_134-5053delGAAGGGACCCCATATCTTAAAATGGTGG AATCGGGGTGTAAGGGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1A_chrX_124341563_124378160	124350872	AATATATT others(44): Show AATATATTATATATTGTATATAAGATATAATATATTATATATTGTATATA AG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18987.hp2 NA18975.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	2	318	0.0063	-51	c.137 others(68): Show c.137+4150_137+4200delTTATATATTGTATATAAGATATAATATA TTATATATTGTATATAAGATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHC2_chr19_411589_466033	422023	TCGAGACC others(44): Show TCGAGACCCTTGAGACCCTCCCACCTGTGCCCAGCGAAGCCCCTGGATGC CC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01071.hp2 others(33): Show HG00423.hp2 HG00558.hp2 HG01071.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02698.hp1 HG02698.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18960.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA19004.hp2 NA19009.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0083 others(31): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0107 a0001c0002t0001g0140 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0002g0046 a0001c0002t0003g0045 a0001c0002t0003g0085 a0001c0002t0003g0091 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0157 a0001c0002t0003g0173 a0001c0002t0003g0178 a0001c0002t0004g0088 a0001c0002t0004g0096 a0001c0002t0004g0106 a0001c0002t0004g0156	36	212	0.1698	-51	c.162 others(67): Show c.1620+72_1620+122delGGGCATCCAGGGGCTTCGCTGGGCACAGG TGGGAGGGTCTCAAGGGTCTCG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	11/12			chr19	TogoVar
SHC2_chr19_411589_466033	456875	CTGCTGTG others(44): Show CTGCTGTGCCCCTGCCTAGAACTCTGTCTGTAAACCCACTGCGTGGGGCC TT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	212	0.0047	-51	c.468 others(68): Show c.468+3603_468+3653delAAGGCCCCACGCAGTGGGTTTACAGACA GAGTTCTAGGCAGGGGCACAGCA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHD_chr19_4274266_4295722	4288019	AGCCTCCT others(44): Show AGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0266	1	462	0.0022	-51	c.717 others(66): Show c.717-223_717-173delGCCTCCTGAGTAGCTGGGATTACAGGCACC CGCCACCACGCCCGGCTAATT	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	4/5			chr19	TogoVar
SKAP1_chr17_48128442_48435214	48378656	CCATGATC others(44): Show CCATGATCCTTTGAGGCTCAGCTAAGTGTCCTATGTTAGGGTTCCCACAG CA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	292	0.0034	-51	c.153 others(70): Show c.153-14893_153-14843delTGCTGTGGGAACCCTAACATAGGACA CTTAGCTGAGCCTCAAAGGATCATG	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(44): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	376	0.0027	-51	c.177 others(68): Show c.177-3576_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1070509	ATGCAGCC others(44): Show ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACAC TT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0015 a0001c0007t0006g0015	1	118	0.0085	-51	c.224 others(70): Show c.2241+3073_2241+3123delAAGTGTGATGCCGTGTGCTGGGGGCT CACTGGGGGCTCACTGGGGGCTGCA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070767	ATGCAGCC others(44): Show ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACAC TT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	118	0.0085	-51	c.224 others(70): Show c.2241+2815_2241+2865delAAGTGTGATGCCGTGTGCTGGGGGCT CACTGGGGGCTCACTGGGGGCTGCA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071260	GGTATCAC others(44): Show GGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCAC AC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03710.hp2 HG00741.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0023 a0001c0001 a0002c0023	a0001c0001t0001 a0002c0023t0004 a0001c0001t0001 a0002c0023t0004	a0001c0001t0001g0056 a0002c0023t0004g0010 a0001c0001t0001g0056 a0002c0023t0004g0010	2	118	0.0170	-51	c.224 others(70): Show c.2241+2322_2241+2372delGTGTGCTGGGGGCTCACTGGGGGCTC ACTGGGGGCTGCATAAGTGTGATAC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071989	CAGCCCCA others(44): Show CAGCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAG TG	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA20752.hp2 NA19065.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0117 a0002c0004t0001g0041 a0001c0001t0001g0117 a0002c0004t0001g0041	2	118	0.0170	-51	c.224 others(70): Show c.2241+1593_2241+1643delCACTGGGGGCTGCATAAGTGTGATAC CGTGTGCTGGGGGCTCACTGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072554	CAGCCCCA others(44): Show CAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TG	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0041 a0002c0004t0001g0041	1	118	0.0085	-51	c.224 others(70): Show c.2241+1028_2241+1078delCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072791	ATGCAGCC others(44): Show ATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCC CC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0093 a0001c0014t0003g0093	1	118	0.0085	-51	c.224 others(68): Show c.2241+791_2241+841delGGGGGCTGCATAAGTGTGATACCGTGTG CTGGGGGCTCACTGGGGGCTGCA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A9_chr10_59645764_59714850	59681732	TATGTATA others(44): Show TATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGTATA TG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG02818.hp1 others(2): Show HG02647.hp2 HG02723.hp1 HG02818.hp1 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0128 a0001c0001t0007g0162 a0001c0001t0007g0190 others(2): Show a0001c0001t0007g0128 a0001c0001t0007g0162 a0001c0001t0007g0190 a0001c0001t0007g0266 a0001c0001t0007g0276	5	352	0.0142	-51	c.196 others(68): Show c.196+2313_196+2363delCATATACATATACATATACATCATATAC ATATACATATACATCATATACAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59713958	ACAGAGAA others(44): Show ACAGAGAACCCTGCTCTGAATTGTCACTCTAAATTCTCATGAAAGTGGAA AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	352	0.0028	-51	c.-45 others(62): Show c.-4567_-4517delATTTCCACTTTCATGAGAATTTAGAGTGACAATT CAGAGCAGGGTTCTCTG	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding		4109		chr10	TogoVar
SLC17A6_chr11_22333381_22384503	22339129	GTTATATA others(44): Show GTTATATATATATGTTATATATAGTTATATATATATGTTATATATATATG TT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02976.hp1 NA18906.hp1 HG01975.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0006g0059 a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0006g0059	3	450	0.0067	-51	c.86+ others(64): Show c.86+523_86+573delGTTATATATAGTTATATATATATGTTATATAT ATATGTTTTATATATATAT	SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A2_chr9_19502455_19794037	19563749	CCCTTCCT others(44): Show CCCTTCCTTCCTTTCATCTGTAACAAAACTGTTGGTTTTTATAATGACCC TT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0023 a0001c0017t0023	a0001c0017t0023g0019 a0001c0017t0023g0019	1	188	0.0053	-51	c.134 others(70): Show c.1347+9551_1347+9601delAAGGGTCATTATAAAAACCAACAGTT TTGTTACAGATGAAAGGAAGGAAGG	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	7/10			chr9	TogoVar
SLC25A26_chr3_66216001_66383923	66383666	TTCTTGAC others(44): Show TTCTTGACCAAGCCCACATCCATCCTGTCCAATTCTTAAAATGTTCTGTA GC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG01123.hp2 others(20): Show HG00280.hp1 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01358.hp2 HG01981.hp1 HG02027.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02976.hp1 HG03139.hp1 HG03540.hp1 HG03540.hp2 HG04115.hp1 NA18522.hp1 NA19240.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0004c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0011g0279 a0001c0001t0015g0012 a0004c0004t0001g0039 a0004c0004t0001g0113	23	298	0.0772	-51	c.58 others(62): Show c.5860_*5910delTCTTGACCAAGCCCACATCCATCCTGTCCAATTC TTAAAATGTTCTGTAGC	SLC25A26	ENSG00000144741.19	transcript	ENST00000354883.11	protein_coding		4744		chr3	TogoVar
SLC28A1_chr15_84879662_84950798	84928577	TCTTTCTT others(44): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTT TC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0364 a0001c0004t0004g0364	1	396	0.0025	-51	c.108 others(70): Show c.1083+4468_1084-4517delCTTTCTTTCTTTCTTTCTTTCTTTCT TTTCTTTCTTTCTTTTCTTTCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC35F3_chr1_233899676_234329511	234308577	TCCCCAGA others(44): Show TCCCCAGAGTATCCATCCTCCTCCATTACCGTCCTTCTCCCACAACCCCC AC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02602.hp2 HG03453.hp1 HG00438.hp1 HG02602.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 a0001c0001t0001 a0001c0001t0013 a0001c0002t0002	a0001c0001t0001g0088 a0001c0001t0013g0112 a0001c0002t0002g0123 a0001c0001t0001g0088 a0001c0001t0013g0112 a0001c0002t0002g0123	3	158	0.0190	-51	c.609 others(66): Show c.609-418_609-368delCAGAGTATCCATCCTCCTCCATTACCGTCC TTCTCCCACAACCCCCACCCC	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC37A1_chr21_42508852_42586426	42570076	TCATGCGA others(44): Show TCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGCTGTT GC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(76): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18941.hp2 NA18959.hp2 NA18969.hp2 NA18971.hp2 NA18994.hp2 NA19043.hp2 NA19070.hp1 NA19081.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0020 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0044 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0003g0056 a0001c0001t0004g0182 a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0006g0027 a0001c0001t0009g0090 a0001c0001t0009g0264 a0001c0001t0009g0312 a0001c0001t0009g0313 a0001c0001t0009g0314 a0001c0001t0020g0010 a0001c0001t0020g0104 a0001c0001t0026g0040 a0001c0001t0026g0041 a0001c0001t0031g0122 a0001c0001t0032g0105 a0001c0001t0034g0046 a0001c0001t0044g0042 a0001c0004t0001g0156 a0001c0009t0001g0001 a0001c0009t0001g0081 a0001c0009t0001g0101	79	356	0.2219	-51	c.142 others(70): Show c.1423+1643_1423+1693delCGACACACGGCCTGGTTCTGAGAAGT GGTGGGCAGGGTGGCTGTTGCCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570081	CGACACAC others(44): Show CGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGGCTGTTGCCAT GT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0137 a0001c0004t0001g0137	1	356	0.0028	-51	c.142 others(70): Show c.1423+1668_1423+1718delTGGTGGGCAGGGTGGCTGTTGCCATG TGACACACGGCCTGGTTCTGAGAAG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570174	ATTGCCAT others(44): Show ATTGCCATGTGACACATGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGC CG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18964.hp2 HG02129.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0068 a0001c0001t0009g0309 a0001c0001t0001g0068 a0001c0001t0009g0309	2	356	0.0056	-51	c.142 others(70): Show c.1423+1746_1423+1796delGACACATGGCCTGGTTCTGAGAAGCG GCAGGCAGGGTGGCCGTTGCCATGT	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570231	ATGTCATG others(44): Show ATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCC GT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19068.hp1 NA18940.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0302 a0001c0001t0003g0303	2	356	0.0056	-51	c.142 others(70): Show c.1423+1801_1423+1851delTGACACACGGCCTGGTTCTGAGAAGC GGCAGGCAGGGTGGCCGTTGTCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570239	TGACACAC others(44): Show TGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGTCAT GC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02965.hp1 NA18944.hp2 others(1): Show HG00140.hp2 HG02965.hp1 NA18944.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0042 a0001c0007t0008 a0001c0001t0001 a0001c0001t0042 a0001c0007t0008	a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0042g0141 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0042g0141 a0001c0007t0008g0043	4	356	0.0112	-51	c.142 others(70): Show c.1423+1826_1423+1876delCGGCAGGCAGGGTGGCCGTTGTCATG CGACACACGGCCTGGTTCTGAGAAG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570264	CGGCAGGC others(44): Show CGGCAGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAA GT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(99): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18959.hp2 NA18969.hp2 NA18971.hp2 NA18994.hp2 NA19043.hp2 NA19070.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0044 a0001c0001t0048 a0001c0003t0005 a0001c0003t0010 a0001c0003t0015 a0001c0003t0016 a0001c0003t0022 a0001c0004t0005 a0001c0008t0005 a0001c0009t0001 a0003c0005t0029 a0003c0005t0036	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0003g0056 a0001c0001t0004g0182 a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0006g0027 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0009g0090 a0001c0001t0009g0264 a0001c0001t0009g0312 a0001c0001t0009g0313 a0001c0001t0009g0314 a0001c0001t0011g0200 a0001c0001t0020g0010 a0001c0001t0020g0104 a0001c0001t0023g0222 a0001c0001t0023g0224 a0001c0001t0026g0040 a0001c0001t0026g0041 a0001c0001t0031g0122 a0001c0001t0032g0105 a0001c0001t0034g0046 a0001c0001t0044g0042 a0001c0001t0048g0220 a0001c0003t0005g0229 a0001c0003t0005g0230 a0001c0003t0005g0231 a0001c0003t0010g0025 a0001c0003t0015g0198 a0001c0003t0016g0197 a0001c0003t0016g0202 a0001c0003t0016g0203 a0001c0003t0022g0218 a0001c0003t0022g0219 a0001c0004t0005g0135 a0001c0004t0005g0163 a0001c0004t0005g0164 a0001c0004t0005g0165 a0001c0008t0005g0234 a0001c0009t0001g0001 a0001c0009t0001g0081 a0001c0009t0001g0101 a0003c0005t0029g0181 a0003c0005t0029g0194 a0003c0005t0036g0195	102	356	0.2865	-51	c.142 others(70): Show c.1423+1829_1423+1879delCAGGCAGGGTGGCCGTTGTCATGCGA CACACGGCCTGGTTCTGAGAAGTGG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC38A10_chr17_81239811_81300307	81253711	ATCACCAT others(44): Show ATCACCATCATCACCATCTCCATCCCTACCACCATCACCATCATCATCAC CG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp2 others(106): Show HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18995.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012	a0001c0002 a0001c0003 a0001c0004 others(24): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0012 a0001c0019 a0001c0022 a0001c0024 a0001c0027 a0001c0032 a0001c0037 a0003c0006 a0003c0029 a0003c0030 a0004c0009 a0004c0023 a0004c0038 a0005c0010 a0005c0025 a0006c0014 a0007c0031 a0008c0020 a0009c0028 a0010c0021 a0012c0036	a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 others(35): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0001c0003t0015 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0005t0016 a0001c0007t0001 a0001c0007t0005 a0001c0008t0005 a0001c0012t0001 a0001c0019t0013 a0001c0022t0001 a0001c0024t0001 a0001c0027t0001 a0001c0032t0001 a0001c0037t0001 a0003c0006t0001 a0003c0006t0004 a0003c0029t0001 a0003c0030t0001 a0004c0009t0005 a0004c0023t0001 a0004c0038t0001 a0005c0010t0003 a0005c0025t0001 a0006c0014t0005 a0007c0031t0001 a0008c0020t0002 a0009c0028t0001 a0010c0021t0005 a0012c0036t0003	a0001c0002t0003g0186 a0001c0003t0001g0017 a0001c0003t0001g0018 others(101): Show a0001c0002t0003g0186 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0051 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0067 a0001c0003t0003g0187 a0001c0003t0005g0165 a0001c0003t0008g0180 a0001c0003t0008g0181 a0001c0003t0015g0209 a0001c0004t0001g0110 a0001c0004t0003g0005 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0190 a0001c0004t0003g0191 a0001c0004t0003g0192 a0001c0004t0003g0194 a0001c0004t0003g0195 a0001c0004t0003g0196 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0203 a0001c0004t0003g0205 a0001c0004t0003g0207 a0001c0004t0004g0002 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0001g0047 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0068 a0001c0005t0001g0069 a0001c0005t0003g0183 a0001c0005t0003g0208 a0001c0005t0005g0164 a0001c0005t0016g0184 a0001c0007t0001g0055 a0001c0007t0005g0166 a0001c0007t0005g0167 a0001c0007t0005g0168 a0001c0007t0005g0169 a0001c0007t0005g0170 a0001c0007t0005g0171 a0001c0007t0005g0172 a0001c0007t0005g0173 a0001c0007t0005g0174 a0001c0007t0005g0175 a0001c0007t0005g0176 a0001c0007t0005g0177 a0001c0007t0005g0178 a0001c0008t0005g0179 a0001c0012t0001g0015 a0001c0012t0001g0016 a0001c0019t0013g0182 a0001c0022t0001g0052 a0001c0024t0001g0059 a0001c0027t0001g0062 a0001c0032t0001g0025 a0001c0037t0001g0056 a0003c0006t0001g0001 a0003c0006t0001g0012 a0003c0006t0001g0013 a0003c0006t0001g0023 a0003c0006t0001g0026 a0003c0006t0001g0027 a0003c0006t0001g0028 a0003c0006t0001g0029 a0003c0006t0001g0030 a0003c0006t0001g0075 a0003c0006t0001g0126 a0003c0006t0004g0133 a0003c0006t0004g0134 a0003c0029t0001g0024 a0003c0030t0001g0031 a0004c0009t0005g0159 a0004c0009t0005g0161 a0004c0009t0005g0162 a0004c0009t0005g0163 a0004c0023t0001g0066 a0004c0038t0001g0057 a0005c0010t0003g0004 a0005c0010t0003g0185 a0005c0025t0001g0042 a0006c0014t0005g0003 a0007c0031t0001g0053 a0008c0020t0002g0085 a0009c0028t0001g0022 a0010c0021t0005g0160 a0012c0036t0003g0204	109	214	0.5094	-51	c.128 others(68): Show c.1289-522_1289-472delCGGTGATGATGATGGTGATGGTGGTAGG GATGGAGATGGTGATGATGGTGA	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	11/15			chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22396385	TAGAGAGA others(44): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAG AG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0287 a0002c0006t0007g0287	1	324	0.0031	-51	c.-15 others(68): Show c.-15-8298_-15-8248delAGAGAGAGAGAGAGAGGGGGGGGGGAGA GAGAGAGAGAGAGAGAGAGAGAG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203432	GGAGAGAG others(44): Show GGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0042 a0001c0015t0002g0042	1	188	0.0053	-51	c.80 others(62): Show c.8089_*8139delTCTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGT CTCTCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3741		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79949400	TCACGCCT others(44): Show TCACGCCTGTAATCCCAACACTTTGGGAGGTCAAGGTGGGTGGATCATGA GG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	352	0.0028	-51	c.203 others(68): Show c.203+1273_203+1323delCCTCATGATCCACCCACCTTGACCTCCC AAAGTGTTGGGATTACAGGCGTG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	2/5			chr18	TogoVar
SLC7A11_chr4_138159097_138247349	138242251	ACTCAGAA others(44): Show ACTCAGAAACACCTGTGTATGCATCGTGCTCTCAATTCTCCACCTCCTCG TT	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0058 a0003c0016t0058	a0003c0016t0058g0006 a0003c0016t0058g0006	1	364	0.0028	-51	c.-23 others(60): Show c.-233_-183delAACGAGGAGGTGGAGAATTGAGAGCACGATGCATAC ACAGGTGTTTCTGAG	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/12	183		chr4	TogoVar
SLCO1A2_chr12_21259600_21339917	21330290	CGAGACCA others(44): Show CGAGACCAGCCTGGGCAACATGTGACACTCCATCTCTATAAATAATACAA AA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	310	0.0032	-51	c.60+ others(66): Show c.60+4247_60+4297delTTTTGTATTATTTATAGAGATGGAGTGTCA CATGTTGCCCAGGCTGGTCTC	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	2/14			chr12	TogoVar
SLX9_chr21_44935029_44981973	44953463	GTCCGGGC others(44): Show GTCCGGGCCTCGGGAGCCTGTCCTGCACCATCCCCGGCGGTGGGGCCCTG CA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	334	0.0030	-51	c.284 others(68): Show c.284-6561_284-6511delCACCATCCCCGGCGGTGGGGCCCTGCAT CCGGGCCTCGGGAGCCTGTCCTG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMG6_chr17_2054843_2308785	2078901	AAAGATAG others(44): Show AAAGATAGGTCATTGGTGATTGGTCAACTATGACACAGACTAAGGTTTGA TG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02895.hp2 others(6): Show HG02258.hp1 HG02280.hp2 HG02895.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 NA19240.hp1	a0007 a0017 a0007 a0017	a0007c0007 a0017c0031 a0007c0007 a0017c0031	a0007c0007t0001 a0007c0007t0002 a0007c0007t0014 others(1): Show a0007c0007t0001 a0007c0007t0002 a0007c0007t0014 a0017c0031t0001	a0007c0007t0001g0013 a0007c0007t0001g0019 a0007c0007t0001g0023 others(6): Show a0007c0007t0001g0013 a0007c0007t0001g0019 a0007c0007t0001g0023 a0007c0007t0001g0024 a0007c0007t0001g0025 a0007c0007t0001g0026 a0007c0007t0002g0028 a0007c0007t0014g0020 a0017c0031t0001g0097	9	278	0.0324	-51	c.368 others(70): Show c.3681+2858_3681+2908delCATCAAACCTTAGTCTGTGTCATAGT TGACCAATCACCAATGACCTATCTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	15/18			chr17	TogoVar
SMIM10L1_chr12_11166194_11181016	11168200	CGAAAGAA others(44): Show CGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA19067.hp2 HG00609.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	397	0.0050	-51	c.-31 others(62): Show c.-3156_-3106delGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2993		chr12	TogoVar
SMOC2_chr6_168436184_168672992	168593195	ATCTTTCT others(44): Show ATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGACTCACGGG CG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp1 HG02109.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0007 a0001c0013t0002 a0001c0002t0007 a0001c0013t0002	a0001c0002t0007g0053 a0001c0013t0002g0033 a0001c0002t0007g0053 a0001c0013t0002g0033	2	180	0.0111	-51	c.638 others(68): Show c.638-5607_638-5557delGCCGAGCTCCTCCTCCTTCCTGAGGACT CACGGGCGTCTTTCTAGAGGATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593823	GCCGAGCT others(44): Show GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGAT CT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	180	0.0056	-51	c.638 others(68): Show c.638-4960_638-4910delGTCTTTCTAGAGGATCTCCGAGCTCCTC CTCCTTCCTGAGGCCTCACGGGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593925	GCCGAGCT others(44): Show GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CT	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	180	0.0056	-51	c.638 others(68): Show c.638-4843_638-4793delCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594395	GGAGCTCC others(44): Show GGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCT CC	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19085.hp1 NA18973.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0070 a0001c0001t0001g0111	2	180	0.0111	-51	c.638 others(68): Show c.638-4345_638-4295delACGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594992	GGCATCTT others(44): Show GGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAC GA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(53): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19079.hp2 NA19091.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0016 a0001c0004t0005 a0001c0013t0002 a0004c0009t0003	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0098 others(53): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0149 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0005g0069 a0001c0002t0007g0053 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0004t0005g0048 a0001c0013t0002g0033 a0004c0009t0003g0088	56	180	0.3111	-51	c.638 others(68): Show c.638-3808_638-3758delCGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGAGCATCTTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD1_chr2_88062825_88118384	88065221	CCCCCCTC others(44): Show CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCC CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02451.hp2 HG02622.hp1 others(2): Show HG01358.hp1 HG02451.hp2 HG02622.hp1 HG03540.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0006 a0001c0003 a0001c0004 a0002c0006	a0001c0003t0004 a0001c0004t0001 a0002c0006t0001 a0001c0003t0004 a0001c0004t0001 a0002c0006t0001	a0001c0003t0004g0307 a0001c0004t0001g0292 a0002c0006t0001g0291 others(2): Show a0001c0003t0004g0307 a0001c0004t0001g0292 a0002c0006t0001g0291 a0002c0006t0001g0293 a0002c0006t0001g0294	5	338	0.0148	-51	c.-26 others(62): Show c.-2643_-2593delCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2603		chr2	TogoVar
SNED1_chr2_240993618_241100568	241052750	CGGGGGGC others(44): Show CGGGGGGCCAAGCAGGGTACATGGGATGCTGGTGTCAGGCAGGTAAGGCC TG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG03139.hp2 others(3): Show HG02559.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0068 a0002c0010 a0002c0036 others(1): Show a0001c0068 a0002c0010 a0002c0036 a0019c0070	a0001c0068t0018 a0002c0010t0016 a0002c0010t0019 others(2): Show a0001c0068t0018 a0002c0010t0016 a0002c0010t0019 a0002c0036t0014 a0019c0070t0019	a0001c0068t0018g0320 a0002c0010t0016g0033 a0002c0010t0016g0157 others(3): Show a0001c0068t0018g0320 a0002c0010t0016g0033 a0002c0010t0016g0157 a0002c0010t0019g0195 a0002c0036t0014g0326 a0019c0070t0019g0008	6	344	0.0174	-51	c.208 others(68): Show c.2083+288_2083+338delGCCAAGCAGGGTACATGGGATGCTGGTG TCAGGCAGGTAAGGCCTGGGGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1106297	GGGTGCAG others(44): Show GGGTGCAGGGTATGGAGAGCTCCTTGATAATAATGGACACGTGCTGTCAC TC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(43): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG02015.hp1 HG02145.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp1 HG03927.hp2 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0012 a0017	a0001c0001 a0002c0003 a0002c0005 others(12): Show a0001c0001 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0003c0026 a0004c0004 a0005c0015 a0006c0009 a0006c0028 a0009c0013 a0009c0029 a0010c0012 a0012c0019 a0017c0031	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0003c0026t0001 a0004c0004t0001 a0005c0015t0001 a0006c0009t0001 a0006c0028t0001 a0009c0013t0001 a0009c0029t0001 a0010c0012t0001 a0012c0019t0001 a0017c0031t0001	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 others(43): Show a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0090 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0003g0120 a0002c0003t0001g0021 a0002c0003t0001g0051 a0002c0003t0001g0093 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0161 a0002c0003t0001g0175 a0002c0003t0001g0185 a0002c0005t0001g0014 a0003c0007t0001g0108 a0003c0008t0001g0095 a0003c0008t0001g0106 a0003c0026t0001g0097 a0004c0004t0001g0040 a0004c0004t0001g0047 a0004c0004t0001g0065 a0004c0004t0001g0089 a0004c0004t0001g0134 a0004c0004t0001g0144 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0005c0015t0001g0037 a0006c0009t0001g0094 a0006c0009t0001g0121 a0006c0028t0001g0117 a0009c0013t0001g0132 a0009c0013t0001g0164 a0009c0029t0001g0152 a0010c0012t0001g0096 a0012c0019t0001g0122 a0017c0031t0001g0110	46	190	0.2421	-51	c.325 others(68): Show c.325+7913_325+7963delATAATAATGGACACGTGCTGTCACTCGG TGCAGGGTATGGAGAGCTCCTTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX4_chr3_125441650_125525202	125458830	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAGAAAAGAAAAGATTCTAATACAGCAATGCACAAA GT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	360	0.0028	-51	c.945 others(68): Show c.945-1516_945-1466delACTTTGTGCATTGCTGTATTAGAATCTT TTCTTTTCTTTTTTTTTTTTTTT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	10/13			chr3	TogoVar
SORCS2_chr4_7187538_7747827	7387166	CACACATG others(44): Show CACACATGCCCACCATACACATGCACACATGCACACACAGATACACAGAA AT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00642.hp2 others(27): Show HG00099.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01106.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01891.hp2 HG02132.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG04199.hp2 HG04228.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0001c0017 a0001c0037 a0001c0047 a0001c0049 a0001c0053 a0002c0004 a0003c0046 a0004c0007 a0005c0008 a0006c0022 a0008c0052 a0010c0040 a0011c0027	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(25): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0050 a0001c0001t0057 a0001c0002t0004 a0001c0003t0008 a0001c0003t0064 a0001c0005t0001 a0001c0005t0014 a0001c0005t0042 a0001c0016t0001 a0001c0017t0005 a0001c0037t0020 a0001c0047t0071 a0001c0049t0001 a0001c0053t0001 a0002c0004t0003 a0003c0046t0001 a0004c0007t0001 a0004c0007t0015 a0005c0008t0001 a0006c0022t0039 a0008c0052t0004 a0010c0040t0004 a0011c0027t0002	a0001c0001t0003g0048 a0001c0001t0003g0098 a0001c0001t0008g0142 others(27): Show a0001c0001t0003g0048 a0001c0001t0003g0098 a0001c0001t0008g0142 a0001c0001t0009g0085 a0001c0001t0012g0047 a0001c0001t0018g0099 a0001c0001t0050g0106 a0001c0001t0057g0094 a0001c0002t0004g0018 a0001c0003t0008g0135 a0001c0003t0064g0005 a0001c0005t0001g0156 a0001c0005t0014g0102 a0001c0005t0042g0157 a0001c0016t0001g0009 a0001c0017t0005g0056 a0001c0037t0020g0017 a0001c0047t0071g0051 a0001c0049t0001g0059 a0001c0053t0001g0044 a0002c0004t0003g0095 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0015g0166 a0005c0008t0001g0006 a0005c0008t0001g0029 a0006c0022t0039g0153 a0008c0052t0004g0030 a0010c0040t0004g0024 a0011c0027t0002g0116	30	168	0.1786	-51	c.481 others(68): Show c.481-9116_481-9066delTGCCCACCATACACATGCACACATGCAC ACACAGATACACAGAAATACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX6_chr11_15961449_16361546	16132294	GGAAGGAA others(44): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGA AA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18977.hp1 NA18980.hp2 others(1): Show NA18969.hp2 NA18977.hp1 NA18980.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0003t0002g0103 others(1): Show a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0003t0002g0103 a0001c0003t0002g0119	4	218	0.0184	-51	c.778 others(70): Show c.778-20422_778-20372delTTTCTTTTTTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132298	GGAAGGAA others(44): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAAGA AA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	218	0.0046	-51	c.778 others(70): Show c.778-20426_778-20376delTTTCTTTCTTTTTTCTTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SPANXB1_chrX_140997594_141008706	141007690	AGAGCATA others(44): Show AGAGCATATTGCATCATTTTCTTCATGGCCAAGAAAATCAAGAATCACTG AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	301	0.0033	-51	c.40 others(62): Show c.4039_*4089delGAGCATATTGCATCATTTTCTTCATGGCCAAGAA AATCAAGAATCACTGAT	SPANXB1	ENSG00000227234.2	transcript	ENST00000449283.2	protein_coding		3985		chrX	TogoVar
SPATA6_chr1_48290373_48477204	48381719	ATTGATCA others(44): Show ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTAGCAGGGTCATA GG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	322	0.0031	-51	c.909 others(68): Show c.909+3539_909+3589delCCTATGACCCTGCTAAATCCCCCTCTGC GAGAAACACCCAAGAATGATCAA	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar