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
SHROOM2_chrX_9781429_9954443	9792048	ATAGAATA others(91): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp1 HG01081.hp1 others(19): Show HG00609.hp1 HG01074.hp1 HG01081.hp1 HG01175.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01993.hp2 HG02040.hp1 HG02148.hp1 HG02886.hp2 NA18612.hp1 NA18906.hp1 NA18943.hp1 NA18960.hp1 NA18970.hp1 NA18982.hp1 NA19002.hp2 NA19005.hp1 NA19043.hp1 NA19064.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0010 a0042	a0001c0001 a0001c0003 a0001c0007 others(10): Show a0001c0001 a0001c0003 a0001c0007 a0001c0012 a0002c0006 a0002c0017 a0003c0004 a0003c0005 a0003c0008 a0004c0016 a0005c0058 a0010c0054 a0042c0046	a0001c0001t0001 a0001c0001t0012 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0012 a0001c0003t0001 a0001c0007t0001 a0001c0012t0001 a0002c0006t0002 a0002c0017t0002 a0003c0004t0003 a0003c0005t0003 a0003c0008t0004 a0004c0016t0002 a0005c0058t0002 a0010c0054t0002 a0042c0046t0003	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 others(19): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0012g0115 a0001c0003t0001g0159 a0001c0003t0001g0186 a0001c0007t0001g0002 a0001c0012t0001g0163 a0002c0006t0002g0188 a0002c0017t0002g0161 a0003c0004t0003g0116 a0003c0004t0003g0162 a0003c0005t0003g0160 a0003c0008t0004g0210 a0004c0016t0002g0230 a0005c0058t0002g0118 a0010c0054t0002g0011 a0042c0046t0003g0187	22	234	0.0940	-98	c.165 others(115): Show c.165+5339_165+5436delTAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAG	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9			chrX	TogoVar
SIL1_chr5_138941724_139203368	139056567	CGGCCAGC others(91): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCATCAAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	198	0.0051	-98	c.245 others(115): Show c.245-5619_245-5522delAGGCGGGGGGCTGACCCCCCCACCTCCC TCCTTGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305712	GGTCAGCC others(91): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGAGGGG GTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03579.hp2 HG02615.hp2 HG02976.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301	3	358	0.0084	-98	c.173 others(117): Show c.1735-7934_1735-7837delAGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1063641	CTCCCCCT others(91): Show CTCCCCCTCCACCCCCACCTCACGAGGCCACAGCCCTCCCGATCTCCACT TCCCCCTCCACCCCCACCTCACGAGGCCACAGCCCTCCCGATCTCCACT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG02040.hp2 others(11): Show HG00741.hp2 HG01106.hp1 HG02040.hp2 HG02071.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp1 HG03927.hp1 NA18943.hp1 NA18943.hp2 NA19055.hp2 NA19065.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(5): Show a0001c0001 a0001c0005 a0001c0006 a0001c0013 a0001c0032 a0002c0002 a0002c0008 a0002c0024	a0001c0001t0001 a0001c0001t0023 a0001c0005t0013 others(7): Show a0001c0001t0001 a0001c0001t0023 a0001c0005t0013 a0001c0006t0011 a0001c0013t0003 a0001c0013t0007 a0001c0032t0001 a0002c0002t0002 a0002c0008t0002 a0002c0024t0002	a0001c0001t0001g0038 a0001c0001t0023g0033 a0001c0005t0013g0077 others(11): Show a0001c0001t0001g0038 a0001c0001t0023g0033 a0001c0005t0013g0077 a0001c0006t0011g0078 a0001c0006t0011g0079 a0001c0013t0003g0047 a0001c0013t0007g0101 a0001c0032t0001g0112 a0002c0002t0002g0045 a0002c0002t0002g0083 a0002c0008t0002g0062 a0002c0008t0002g0063 a0002c0008t0002g0068 a0002c0024t0002g0060	14	47	0.2979	-98	c.273 others(115): Show c.2739+105_2739+202delAGTGGAGATCGGGAGGGCTGTGGCCTCG TGAGGTGGGGGTGGAGGGGGAAGTGGAGATCGGGAGGGCTGTGGCCTCGT GAGGTGGGGGTGGAGGGGGA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC26A3_chr7_107760469_107808223	107770153	CTTTTTTT others(91): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp2 NA19060.hp1 others(2): Show HG03139.hp2 HG03471.hp2 NA19060.hp1 NA19068.hp2 NA19074.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0347 others(2): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0347 a0001c0001t0001g0381 a0004c0006t0001g0365	5	11	0.4545	-98	c.206 others(117): Show c.2062+1803_2062+1900delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAA AAAAAAAAAAAAAAAAAAAAAA	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20			chr7	TogoVar
SLC38A9_chr5_55620848_55717324	55696017	CGGGGGGC others(91): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	347	0.0029	-98	c.113 others(115): Show c.113+1731_113+1828delACCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC39A14_chr8_22362278_22427736	22396437	AGAGAGAG others(91): Show AGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0197 a0001c0004t0001g0197	1	306	0.0033	-98	c.-15 others(115): Show c.-15-8257_-15-8160delAGAGAGAGAGGGGGGGGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396441	AGAGAGAG others(91): Show AGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG04228.hp1 HG02083.hp1 HG04228.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0087 a0003c0001t0001g0115 a0003c0001t0001g0087 a0003c0001t0001g0115	2	318	0.0063	-98	c.-15 others(115): Show c.-15-8247_-15-8150delGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGGGGGGAGAGAG	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141278400	CGGTGGAA others(91): Show CGGTGGAAGCGGGGCGGGCGGCCGACCCACGAGGACACTGGCGGGACAGG GGTGAGCACAACCCACGAGGACACTGGCGGGACAGGGGTGAGCACCTGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp2 others(2): Show HG01884.hp2 HG02055.hp1 HG02109.hp2 HG03486.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0009 a0001c0006t0026 a0002c0005t0007 a0001c0006t0009 a0001c0006t0026 a0002c0005t0007	a0001c0006t0009g0001 a0001c0006t0009g0006 a0001c0006t0026g0007 others(1): Show a0001c0006t0009g0001 a0001c0006t0009g0006 a0001c0006t0026g0007 a0002c0005t0007g0005	5	186	0.0269	-98	c.-40 others(119): Show c.-400-23869_-400-23772delACAGGTGCTCACCCCTGTCCCGCC AGTGTCCTCGTGGGTTGTGCTCACCCCTGTCCCGCCAGTGTCCTCGTGGG TCGGCCGCCCGCCCCGCTTCCACC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	1/8			chr8	TogoVar
SLC9A3_chr5_465456_529449	486992	GCACTGAC others(91): Show GCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCC ACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACCCACCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01167.hp2 others(12): Show HG00099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01993.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02451.hp1 NA18954.hp2 NA18983.hp2 NA19002.hp1 NA19085.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0007 a0002c0002 a0002c0004 others(3): Show a0001c0007 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0007c0022	a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 others(6): Show a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 a0002c0002t0002 a0002c0004t0015 a0002c0005t0006 a0002c0006t0006 a0002c0006t0026 a0007c0022t0005	a0001c0007t0001g0043 a0001c0007t0001g0045 a0001c0007t0005g0187 others(11): Show a0001c0007t0001g0043 a0001c0007t0001g0045 a0001c0007t0005g0187 a0001c0007t0012g0176 a0002c0002t0002g0020 a0002c0004t0015g0037 a0002c0005t0006g0213 a0002c0005t0006g0214 a0002c0005t0006g0215 a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047 a0007c0022t0005g0210	15	173	0.0867	-98	c.675 others(115): Show c.675+1226_675+1323delTGGTGGGTGTCAGTGCGGTGGGTGTCAG TGTGGTGGGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGG TCTGGATCACGGTGTCAGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLURP2_chr8_142759338_142774828	142761237	TTCAGTGG others(91): Show TTCAGTGGTTTCTCACACAGCATACAATCCACCCATTTACAGTGGGTAAT TCAGTGGTTTCTCACGCACCATACAATCCACCCGTTTACAGTGGGTAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0062 a0001c0001t0007g0062	1	444	0.0023	-98	c.32 others(109): Show c.3270_*3367delGTTACCCACTGTAAACGGGTGGATTGTATGGTGC GTGAGAAACCACTGAATTACCCACTGTAAATGGGTGGATTGTATGCTGTG TGAGAAACCACTGA	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		3100		chr8	TogoVar
SMIM14_chr4_39541336_39643865	39619358	ATATATCA others(91): Show ATATATCAATAAATATAATTTATTCTATATATCAATAAATATAATTTATT CTATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATTC	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0301 a0001c0001t0003g0301	1	337	0.0030	-98	c.-35 others(117): Show c.-35-14276_-35-14179delGAATAAATTATATTTATTGATATAGA ATAAATTATATTTATTGATATAGAATAAATTATATTTATTGATATATAGA ATAAATTATATTTATTGATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMOC2_chr6_168436184_168672992	168488829	ATCTGGGT others(91): Show ATCTGGGTCCCCTTGCATCACACTGTTTTAGAATGAAATATATCAAATCG TCTGGGTCCCCTTGGATCACACTGTTTTAGAATGAAATATATCAAATCG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02738.hp2 HG02896.hp1 others(3): Show HG01516.hp2 HG02738.hp2 HG02896.hp1 HG03490.hp1 HG03516.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008	a0001c0001t0001g0159 a0001c0002t0002g0065 a0001c0002t0002g0066 others(3): Show a0001c0001t0001g0159 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0005g0069 a0001c0002t0008g0047	6	178	0.0337	-98	c.85- others(115): Show c.85-21054_85-20957delATGAAATATATCAAATCGTCTGGGTCCC CTTGGATCACACTGTTTTAGAATGAAATATATCAAATCGTCTGGGTCCCC TTGCATCACACTGTTTTAGA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246232573	TCACACTG others(91): Show TCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATT CACACAGTGATGAACATATTCCACACAGAGGAGAAGCACTCCTTCAATC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00738.hp2 others(16): Show HG00408.hp2 HG00621.hp1 HG00738.hp2 HG01975.hp2 HG02015.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp2 HG02717.hp2 HG02809.hp2 HG03225.hp1 HG03491.hp1 HG03831.hp2 NA18747.hp1 NA18965.hp1 NA18984.hp2 NA19000.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0002 a0003c0015t0002	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0092 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0002t0001g0034 a0001c0002t0001g0062 a0001c0006t0001g0068 a0002c0003t0001g0126 a0002c0003t0002g0125 a0002c0004t0001g0134 a0002c0005t0002g0133 a0003c0015t0002g0094	19	150	0.1267	-98	c.531 others(117): Show c.531+94530_531+94627delGATTGAAGGAGTGCTTCTCCTCTGTG TGGAATATGTTCATCACTGTGTGAATTGAAGGAGTGCTTCTCCTCTGTGT GGTATATGTTCATCACAGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SOGA1_chr20_36772447_36868538	36858393	AACACACA others(91): Show AACACACACACACACACACACACACACACTGGCTGCACTTCACTCACATC TAGAATCACCAAGGAGGGAAAACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18952.hp2 HG00544.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0002 a0001c0001t0030	a0001c0001t0002g0124 a0001c0001t0030g0126 a0001c0001t0002g0124 a0001c0001t0030g0126	2	181	0.0110	-98	c.687 others(115): Show c.687+4167_687+4264delGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTTCCCTCCTTGGTGATTCTAGATGTGAGTGAAGTGCAGCCAGTGTGTGT GTGTGTGTGTGTGTGTGTGT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SORCS2_chr4_7187538_7747827	7386821	CACAGATA others(91): Show CACAGATACACAGAAATACACACATGCACACACACATAGGTACATGCATG CACACATGCACACACAGATACAGAGATACACATGCACATACATACACAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp1 HG01361.hp2 others(12): Show HG01167.hp1 HG01175.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02970.hp1 HG03239.hp2 HG04228.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0015 a0001c0017 a0001c0028 a0002c0004 a0003c0042 a0012c0039	a0001c0001t0017 a0001c0001t0029 a0001c0001t0054 others(12): Show a0001c0001t0017 a0001c0001t0029 a0001c0001t0054 a0001c0003t0011 a0001c0003t0015 a0001c0003t0020 a0001c0005t0008 a0001c0006t0001 a0001c0006t0002 a0001c0015t0011 a0001c0017t0015 a0001c0028t0027 a0002c0004t0005 a0003c0042t0004 a0012c0039t0049	a0001c0001t0017g0052 a0001c0001t0029g0141 a0001c0001t0054g0007 others(12): Show a0001c0001t0017g0052 a0001c0001t0029g0141 a0001c0001t0054g0007 a0001c0003t0011g0080 a0001c0003t0015g0091 a0001c0003t0020g0043 a0001c0005t0008g0065 a0001c0006t0001g0054 a0001c0006t0002g0165 a0001c0015t0011g0002 a0001c0017t0015g0124 a0001c0028t0027g0152 a0002c0004t0005g0083 a0003c0042t0004g0066 a0012c0039t0049g0064	15	168	0.0893	-98	c.481 others(115): Show c.481-9465_481-9368delCAGATACACAGAAATACACACATGCACA CACACATAGGTACATGCATGCACACATGCACACACAGATACAGAGATACA CATGCACATACATACACATA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7387201	CACAGATA others(91): Show CACAGATACACAGAAATACACACATGCACACACACATAGGTACATGCATG CACACATGCACACACAGATACAGAGATACACATGCACATACATACACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00639.hp1 others(29): Show HG00323.hp1 HG00438.hp2 HG00639.hp1 HG01261.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02132.hp1 HG02148.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG03017.hp1 HG03139.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18962.hp1 NA18962.hp2 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0017	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0014 a0001c0016 a0001c0029 a0002c0004 a0003c0012 a0004c0043 a0004c0044 a0005c0020 a0006c0008 a0011c0023 a0017c0019	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(27): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0055 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0035 a0001c0002t0051 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016 a0001c0003t0023 a0001c0009t0037 a0001c0014t0016 a0001c0016t0006 a0001c0029t0061 a0002c0004t0002 a0002c0004t0005 a0002c0004t0047 a0003c0012t0034 a0004c0043t0031 a0004c0044t0041 a0005c0020t0017 a0006c0008t0006 a0011c0023t0009 a0017c0019t0013	a0001c0001t0002g0089 a0001c0001t0002g0130 a0001c0001t0005g0014 others(29): Show a0001c0001t0002g0089 a0001c0001t0002g0130 a0001c0001t0005g0014 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0055g0092 a0001c0001t0058g0161 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0002g0133 a0001c0002t0007g0076 a0001c0002t0011g0112 a0001c0002t0035g0020 a0001c0002t0051g0004 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0003t0016g0023 a0001c0003t0023g0147 a0001c0009t0037g0042 a0001c0014t0016g0139 a0001c0016t0006g0039 a0001c0029t0061g0162 a0002c0004t0002g0013 a0002c0004t0005g0110 a0002c0004t0047g0134 a0003c0012t0034g0010 a0004c0043t0031g0058 a0004c0044t0041g0016 a0005c0020t0017g0037 a0006c0008t0006g0155 a0011c0023t0009g0122 a0017c0019t0013g0027	32	137	0.2336	-98	c.481 others(115): Show c.481-9085_481-8988delCAGATACACAGAAATACACACATGCACA CACACATAGGTACATGCATGCACACATGCACACACAGATACAGAGATACA CATGCACATACATACACATA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPG7_chr16_89503403_89562766	89541047	GTACGCAG others(91): Show GTACGCAGAAATAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTG TACGCAGAAATAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	356	0.0028	-98	c.132 others(117): Show c.1325-3552_1325-3455delGTACGCAGAAATAGAAGAGCTGAAAC TGGTGTATCCTTATCACGGTGTTCTACGCAGAAATAGAAGAGCTGAAACT GGTGTATCCTTATCACGGTGTT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPTB_chr14_64741283_64884907	64748163	TGATACCA others(91): Show TGATACCAAGACATGGCTGCGTCTGCCACCCCGAGAAAACAGATGATCAA CTTTACTGTCTGCCCAGCCATTACCCTCCAAAGTCCCAGCTGCAGACAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02647.hp1 others(3): Show HG02109.hp1 HG02630.hp2 HG02647.hp1 HG02818.hp1 HG03041.hp2 NA18906.hp2	a0002 a0006 a0028 a0002 a0006 a0028	a0002c0003 a0002c0078 a0006c0016 others(1): Show a0002c0003 a0002c0078 a0006c0016 a0028c0065	a0002c0003t0014 a0002c0078t0014 a0006c0016t0021 others(1): Show a0002c0003t0014 a0002c0078t0014 a0006c0016t0021 a0028c0065t0014	a0002c0003t0014g0112 a0002c0003t0014g0116 a0002c0003t0014g0117 others(3): Show a0002c0003t0014g0112 a0002c0003t0014g0116 a0002c0003t0014g0117 a0002c0078t0014g0200 a0006c0016t0021g0049 a0028c0065t0014g0180	6	266	0.0226	-98	c.10 others(109): Show c.1045_*1142delCTGTCTGCAGCTGGGACTTTGGAGGGTAATGGCT GGGCAGACAGTAAAGTTGATCATCTGTTTTCTCGGGGTGGCAGACGCAGC CATGTCTTGGTATC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	36/36	1045		chr14	TogoVar
STARD13_chr13_33098137_33290755	33177814	AAGGAAGG others(91): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0169 a0001c0002t0006g0169	1	297	0.0034	-98	c.170 others(117): Show c.170-10290_170-10193delCCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STIM1_chr11_3850664_4098208	3895653	TCTTTCTT others(91): Show TCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	296	0.0034	-98	c.139 others(117): Show c.139+39248_139+39345delTCTTTCTTTCTTTCTTTCCTTCCTTC CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895661	TCTTTCTT others(91): Show TCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0020 a0004c0007t0020	a0004c0007t0020g0003 a0004c0007t0020g0003	1	291	0.0034	-98	c.139 others(117): Show c.139+39256_139+39353delTCTTTCTTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTCCTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895665	TCTTTCTT others(91): Show TCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02886.hp2 HG01433.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0015g0007 a0001c0002t0001g0015 a0001c0001t0015g0007 a0001c0002t0001g0015	2	291	0.0069	-98	c.139 others(117): Show c.139+39260_139+39357delTCTTTCCTTCCTTCCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTCCTTCCTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895669	TCTTTCCT others(91): Show TCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0206 a0002c0004t0003g0206	1	293	0.0034	-98	c.139 others(117): Show c.139+39264_139+39361delTCCTTCCTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCC TTCCTTCCTTCCTTCCTTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STON2_chr14_81255652_81405324	81308822	ATATGTGT others(91): Show ATATGTGTGTGTGTGTATATATATATATATACACATACATACATACATAC ATACATACACTAAAGGGTTGTGGCAGGATTTGAGACAGAAAGGCTGCTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01071.hp2 others(9): Show HG00408.hp2 HG00438.hp2 HG01071.hp2 HG01884.hp1 HG02080.hp1 HG02132.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02809.hp2 NA18998.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(7): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0032 a0001c0002t0082 a0002c0001t0002 a0002c0001t0011 a0002c0001t0019 a0002c0001t0070 a0002c0001t0072	a0001c0002t0001g0241 a0001c0002t0004g0188 a0001c0002t0005g0142 others(9): Show a0001c0002t0001g0241 a0001c0002t0004g0188 a0001c0002t0005g0142 a0001c0002t0032g0155 a0001c0002t0082g0257 a0002c0001t0002g0038 a0002c0001t0002g0123 a0002c0001t0002g0125 a0002c0001t0011g0246 a0002c0001t0019g0149 a0002c0001t0070g0221 a0002c0001t0072g0138	12	262	0.0458	-98	c.742 others(117): Show c.742+15097_742+15194delAAGCAGCCTTTCTGTCTCAAATCCTG CCACAACCCTTTAGTGTATGTATGTATGTATGTATGTATGTGTATATATA TATATATACACACACACACATA	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
SUCLG2_chr3_67369719_67659612	67443996	ATCCGGGA others(91): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCTGGCCAGCCGCGCCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	278	0.0036	-98	c.106 others(119): Show c.1063-43243_1063-43146delCGGCGCGGCTGGCCAGGCGGGGGG CTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGA	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SV2C_chr5_76078383_76338956	76171632	CGGCCAGC others(91): Show CGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCC GGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0138 a0001c0002t0015g0138	1	232	0.0043	-98	c.581 others(117): Show c.581-23277_581-23180delCCCCATCCGGGAGGGAGGTGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYNPR_chr3_63273308_63621924	63313848	CATATATA others(91): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATATCCATATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0238 a0001c0001t0009g0238	1	218	0.0046	-98	c.84+ others(115): Show c.84+35117_84+35214delCCATATATATATATCCATATATATATCC ATATATATATATCCATATATATATCCATATATATATATATCCATATATAT ATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17705054	ACCCCCCC others(91): Show ACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGA CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02165.hp2 HG03942.hp1 others(2): Show HG02132.hp2 HG02165.hp2 HG03942.hp1 HG04228.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0161 a0001c0001t0003g0158 a0001c0001t0010g0159 others(2): Show a0001c0001t0002g0161 a0001c0001t0003g0158 a0001c0001t0010g0159 a0001c0001t0010g0160 a0001c0001t0011g0162	5	158	0.0316	-98	c.-10 others(119): Show c.-101+37329_-101+37426delGTCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGG	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17705128	GCGGCTGG others(91): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01433.hp1 HG02109.hp1 others(6): Show HG00280.hp1 HG01433.hp1 HG02109.hp1 HG02145.hp1 HG02523.hp1 HG02970.hp1 HG04184.hp2 NA18975.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0068 a0001c0001t0001g0145 a0001c0001t0002g0047 others(6): Show a0001c0001t0001g0068 a0001c0001t0001g0145 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0146 a0001c0001t0005g0003 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0009g0059	9	79	0.1139	-98	c.-10 others(119): Show c.-101+37255_-101+37352delTGCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCG	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22			chr3	TogoVar
TC2N_chr14_91774746_91872536	91870553	GCAAACCC others(91): Show GCAAACCCTTCAGGTCTCATCTGAAAGGTCACTTCCTAAGAGGAGCCTTC TCTGGTTCCCCAATCTAAGTCAGGTCCCCCTGCGACCTCTGACGCTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	342	0.0029	-98	c.-34 others(109): Show c.-3446_-3349delTGCAGCGTCAGAGGTCGCAGGGGGACCTGACTTA GATTGGGGAACCAGAGAAGGCTCCTCTTAGGAAGTGACCTTTCAGATGAG ACCTGAAGGGTTTG	TC2N	ENSG00000165929.13	transcript	ENST00000435962.7	protein_coding		3018		chr14	TogoVar
TENM2_chr5_166974029_168269157	167859876	TGCCCGGC others(91): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGTCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0029 a0001c0008t0003g0029	1	54	0.0185	-98	c.503 others(117): Show c.503-16070_503-15973delTCGGCCCCCCGCCCGGCCAGTCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGG	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747754	CTGGGGTA others(91): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0065 a0001c0001t0078g0065	1	312	0.0032	-98	c.189 others(113): Show c.189-571_189-474delTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129101025	AGGGTCTA others(91): Show AGGGTCTAAGCTTTGCAGCGCTAGGCGGTGGCAGGGATCTAAGCTCTGCA GTGCAGTCGGCGGCAGAGATTGAAGCTCTGTGGCACCAGTTGATGGCAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20752.hp1 HG01192.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0084 a0001c0001t0015g0005 a0001c0001t0003g0084 a0001c0001t0015g0005	2	92	0.0217	-98	c.144 others(119): Show c.1444-16421_1444-16324delCTGCCATCAACTGGTGCCACAGAG CTTCAATCTCTGCCGCCGACTGCACTGCAGAGCTTAGATCCCTGCCACCG CCTAGCGCTGCAAAGCTTAGACCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287382	GCTCCCTG others(91): Show GCTCCCTGCTGCTGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0088 a0001c0002t0003g0088	1	336	0.0030	-98	c.519 others(115): Show c.519+1144_519+1241delGGTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC GGGGAGGCAGCAGCAGGGAG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287661	GCCTCCCC others(91): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCTGCACCCTCTCTGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAC	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	277	0.0036	-98	c.519 others(113): Show c.519+865_519+962delGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCAGAGAGGGTGCAGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287696	CGCCGCAG others(91): Show CGCCGCAGCCTCCCCGCTGCACCCTCTCTGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01257.hp1 HG00423.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0248 a0001c0001t0001g0020 a0001c0001t0001g0248	2	324	0.0062	-98	c.519 others(113): Show c.519+830_519+927delAGGGAGGGTGCGGCGGGGAGGCTGCGGCGG GGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCAGAGAGGGTG CAGCGGGGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TPR_chr1_186306652_186380253	186327183	AAATATAT others(91): Show AAATATATATTATATATTTATATATATAATATATATAAATATATAATATA TATTTATATATATAATATATATAAATATATAATATATATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG03579.hp2 HG03139.hp2 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0160 a0001c0001t0001g0046 a0001c0001t0001g0160	3	406	0.0074	-98	c.588 others(115): Show c.5889+179_5889+276delATATATAAATATATATATTATATATTTA TATATATTATATATATAAATATATATTATATATTTATATATATTATATAT ATAAATATATAATATATATT	TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50			chr1	TogoVar
TRIML1_chr4_188134441_188152743	188151539	AGAGGGGG others(91): Show AGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG AGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01346.hp1 HG01975.hp2 others(15): Show HG00544.hp1 HG01346.hp1 HG01975.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG03942.hp2 HG04204.hp2 NA18975.hp1 NA18990.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp1 NA19065.hp2 NA19081.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0007 a0008c0012 a0001c0001 a0004c0007 a0008c0012	a0001c0001t0001 a0004c0007t0001 a0008c0012t0001 a0001c0001t0001 a0004c0007t0001 a0008c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0075 a0004c0007t0001g0059 a0008c0012t0001g0002	18	225	0.0800	-98	c.41 others(109): Show c.4168_*4265delGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGA AGGGGAGTGAGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3797		chr4	TogoVar
TRIO_chr5_14138342_14515204	14382757	GTGTGTGT others(91): Show GTGTGTGTGTTAGACATGGGATCTTGCTCTGTTACCCAGGCTGGAATACA TAATAGTTATGCACATTATATGATCTGTATTTAGGGGCGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0025 a0001c0044t0001g0025	1	196	0.0051	-98	c.357 others(117): Show c.3570+1515_3570+1612delTAGACATGGGATCTTGCTCTGTTACC CAGGCTGGAATACATAATAGTTATGCACATTATATGATCTGTATTTAGGG GCGTGTGTGTGTCTGTGTGTGT	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	21/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TTLL11_chr9_121810674_122098308	121912738	ACATGATA others(91): Show ACATGATATCAAGAATTTAGTAAGCACTTAGAATGTGATGAGTTTGAGGC AGTCTCTAAGTGTGTGATCTCTAAGCCCCATAAAGATCCTTGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0065 a0001c0001t0041g0065	1	172	0.0058	-98	c.148 others(119): Show c.1482-42088_1482-41991delCCTTTCCCAAGGATCTTTATGGGG CTTAGAGATCACACACTTAGAGACTGCCTCAAACTCATCACATTCTAAGT GCTTACTAAATTCTTGATATCATG	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TTLL11_chr9_121810674_122098308	121971068	GGGGGGGT others(91): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0157 a0003c0002t0004g0157	1	172	0.0058	-98	c.148 others(117): Show c.1481+2843_1481+2940delTACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCC	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TXNRD1_chr12_104210779_104355307	104323339	GTGGCCGG others(91): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	300	0.0033	-98	c.121 others(117): Show c.1216-1952_1216-1855delGCGGCTGGCCGGGCGGGGGGCTGACC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGG	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
UBTD1_chr10_97493924_97576206	97528098	CGGACGGG others(91): Show CGGACGGGGAGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	312	0.0032	-98	c.70+ others(115): Show c.70+28834_70+28931delAGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCC CACCTCCCTCCTGGACGGGG	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK3_chr15_74831118_74848156	74837475	CACACGAG others(91): Show CACACGAGCCACAGCGCAGTGCCGAGCAAGTGAGAGAGTGAAGGACGGGG ACACGAGCCACAGCGCAGTGCCGAGCAAGTGAGAGAGTGAAGGACGGGG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0063 a0002c0001t0001g0063	1	166	0.0060	-98	c.133 others(114): Show c.1336-138_1336-41delCCCCGTCCTTCACTCTCTCACTTGCTCGG CACTGCGCTGTGGCTCGTGTCCCCGTCCTTCACTCTCTCACTTGCTCGGC ACTGCGCTGTGGCTCGTGT	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
ULK3_chr15_74831118_74848156	74837505	TGAGAGAG others(91): Show TGAGAGAGTGAAGGACGGGGACACGAGCCACAGCGCAGTGCCGAGCAAGT GAGAGAGTGAAGGACGGGGACACGAGCCACAGCGCAGTGCCGAGCAAGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 NA18989.hp1 others(1): Show HG00544.hp2 HG00597.hp1 NA18989.hp1 NA19074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0010 a0002c0001t0001g0010	4	436	0.0092	-98	c.133 others(114): Show c.1335+148_1336-71delTCTTGCTCGGCACTGCGCTGTGGCTCGTG TCCCCGTCCTTCACTCTCTCACTTGCTCGGCACTGCGCTGTGGCTCGTGT CCCCGTCCTTCACTCTCTC	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
UNC5B_chr10_71207570_71307864	71296940	GAGGTGAG others(91): Show GAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACACCACTCTGGTGG AGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACAGCACTGTGGCAT	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	366	0.0027	-98	c.249 others(115): Show c.2490+214_2490+311delGGCCAGATATTCCGGCTGCACACCACTC TGGTGGAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACAGCACTGT GGCATAGGTGAGGGAAGGGC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296969	GGCTGCAC others(91): Show GGCTGCACACCACTCTGGTGGAGGTGAGGGAAGGGCGGCCAGATATTCCG GCTGCACAGCACTGTGGCATAGGTGAGGGAAGGGCCGCCAGATATTCCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp1 HG03209.hp2 others(1): Show HG02647.hp1 HG03041.hp1 HG03209.hp2 NA19240.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0045 a0001c0001 a0018c0045	a0001c0001t0011 a0001c0001t0025 a0018c0045t0051 a0001c0001t0011 a0001c0001t0025 a0018c0045t0051	a0001c0001t0011g0339 a0001c0001t0011g0346 a0001c0001t0025g0336 others(1): Show a0001c0001t0011g0339 a0001c0001t0011g0346 a0001c0001t0025g0336 a0018c0045t0051g0137	4	360	0.0111	-98	c.249 others(115): Show c.2490+240_2490+337delTCTGGTGGAGGTGAGGGAAGGGCGGCCA GATATTCCGGCTGCACAGCACTGTGGCATAGGTGAGGGAAGGGCCGCCAG ATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCX2_chrX_8164944_8176267	8169551	ACACCACC others(91): Show ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02559.hp2 HG02965.hp1 HG01167.hp1 HG02559.hp2 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0010 a0003c0003 a0003c0010	a0003c0003t0001 a0003c0010t0001 a0003c0003t0001 a0003c0010t0001	a0003c0003t0001g0002 a0003c0010t0001g0019 a0003c0003t0001g0002 a0003c0010t0001g0019	3	113	0.0265	-98	c.38 others(107): Show c.383_*480delGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		392		chrX	TogoVar
VPS53_chr17_503668_719839	548394	GACTACAC others(91): Show GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACG ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02040.hp2 NA18940.hp2 others(2): Show HG00741.hp2 HG02040.hp2 NA18940.hp2 NA19065.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0002 a0001c0001t0107 a0001c0001t0110 others(1): Show a0001c0001t0002 a0001c0001t0107 a0001c0001t0110 a0002c0010t0020	a0001c0001t0002g0133 a0001c0001t0002g0210 a0001c0001t0107g0127 others(2): Show a0001c0001t0002g0133 a0001c0001t0002g0210 a0001c0001t0107g0127 a0001c0001t0110g0122 a0002c0010t0020g0156	5	230	0.0217	-98	c.186 others(117): Show c.1866+3380_1866+3477delTGTTGGATGATTCCAGAAGGACTGTT GGCTGGCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar

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