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
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(33): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG01069.hp1 others(32): Show HG00609.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02165.hp2 HG02602.hp2 HG03139.hp1 HG03491.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp1 NA18941.hp1 NA18945.hp2 NA18951.hp2 NA18980.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA19009.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19088.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0086 a0001c0001t0093 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0030 a0001c0002t0062 a0001c0007t0003	a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0079 others(31): Show a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0271 a0001c0001t0001g0317 a0001c0001t0001g0349 a0001c0001t0002g0010 a0001c0001t0002g0077 a0001c0001t0002g0293 a0001c0001t0003g0098 a0001c0001t0003g0185 a0001c0001t0006g0363 a0001c0001t0014g0022 a0001c0001t0014g0027 a0001c0001t0023g0030 a0001c0001t0025g0043 a0001c0001t0086g0067 a0001c0001t0093g0141 a0001c0002t0001g0252 a0001c0002t0001g0348 a0001c0002t0002g0150 a0001c0002t0002g0186 a0001c0002t0002g0227 a0001c0002t0003g0112 a0001c0002t0003g0187 a0001c0002t0008g0106 a0001c0002t0012g0038 a0001c0002t0030g0337 a0001c0002t0062g0255 a0001c0007t0003g0191	35	155	0.2258	40	c.-32 others(57): Show c.-32-1676_-32-1637dupGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302843	G G	GGTGAGGA others(33): Show GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0352 a0001c0001t0004g0352	1	370	0.0027	40	c.-32 others(57): Show c.-32-1867_-32-1866insTGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCAC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHOX_chrX_625791_656584	648889	C C	CTCCTTCC others(33): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0008 a0001c0001t0155g0008	1	95	0.0105	40	c.42 others(51): Show c.4274_*4275insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	4275	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0005	1	97	0.0103	40	c.118 others(61): Show c.1182-14722_1182-14721insAAAAAAAAAAAAAAAATATATATA TATATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(33): Show AATAAATAAATAAATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	31	0.0323	40	c.324 others(59): Show c.324-63928_324-63927insAATAAATAAATAAATATATATATATA TATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(33): Show AATAAATAAATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0098 a0003c0002t0001g0098	1	31	0.0323	40	c.324 others(59): Show c.324-63928_324-63927insAATAAATAAATATATATATATATATA TATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18967.hp1 NA19002.hp2 others(1): Show HG03195.hp2 NA18967.hp1 NA19002.hp2 NA19010.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0027	a0002c0003 a0003c0002 a0005c0021 others(1): Show a0002c0003 a0003c0002 a0005c0021 a0027c0029	a0002c0003t0001 a0003c0002t0001 a0005c0021t0009 others(1): Show a0002c0003t0001 a0003c0002t0001 a0005c0021t0009 a0027c0029t0003	a0002c0003t0001g0129 a0003c0002t0001g0170 a0005c0021t0009g0132 others(1): Show a0002c0003t0001g0129 a0003c0002t0001g0170 a0005c0021t0009g0132 a0027c0029t0003g0190	4	32	0.1250	40	c.324 others(59): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTATGTGTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	C C	CTCCTTCC others(33): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA19062.hp1 HG01069.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0123 a0001c0001t0001g0090 a0001c0001t0001g0123	2	42	0.0476	40	c.295 others(59): Show c.2957+9336_2957+9337insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGA	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50618278	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	74	0.0135	40	c.295 others(59): Show c.2957+9296_2957+9335dupAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIAH3_chr13_45772242_45856753	45826361	A A	ATGGATGG others(33): Show ATGGATGGATGGTTGGGTAGGTGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00673.hp2 others(54): Show HG00280.hp2 HG00597.hp1 HG00673.hp2 HG00738.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01891.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG06807.hp2 NA18939.hp2 NA18942.hp2 NA18959.hp1 NA18966.hp1 NA18972.hp1 NA18973.hp1 NA18984.hp1 NA18985.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0053 a0001c0001t0085 a0001c0001t0090 a0001c0001t0091 a0001c0001t0098 a0001c0001t0105	a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0141 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0002g0140 a0001c0001t0003g0114 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0004g0131 a0001c0001t0005g0109 a0001c0001t0006g0026 a0001c0001t0006g0108 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0124 a0001c0001t0008g0123 a0001c0001t0009g0033 a0001c0001t0009g0222 a0001c0001t0009g0231 a0001c0001t0010g0137 a0001c0001t0011g0142 a0001c0001t0012g0032 a0001c0001t0012g0119 a0001c0001t0013g0007 a0001c0001t0013g0012 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0014g0133 a0001c0001t0014g0134 a0001c0001t0015g0148 a0001c0001t0019g0014 a0001c0001t0019g0017 a0001c0001t0021g0200 a0001c0001t0023g0120 a0001c0001t0024g0230 a0001c0001t0025g0011 a0001c0001t0025g0018 a0001c0001t0027g0235 a0001c0001t0038g0082 a0001c0001t0038g0121 a0001c0001t0040g0006 a0001c0001t0041g0010 a0001c0001t0042g0008 a0001c0001t0043g0013 a0001c0001t0044g0009 a0001c0001t0045g0019 a0001c0001t0049g0210 a0001c0001t0053g0225 a0001c0001t0085g0103 a0001c0001t0090g0344 a0001c0001t0091g0343 a0001c0001t0098g0229 a0001c0001t0105g0110	57	362	0.1575	40	c.135 others(59): Show c.135+25133_135+25134insACCATCCATCCATCCATCCACCTACC CAACCATCCATCCA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(33): Show CGGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	128	0.0078	40	c.-15 others(59): Show c.-153-1244_-153-1243insCGACTGCATTCAGACATGGTCAGAGC TGGGCACCCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(33): Show CGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01256.hp1 others(19): Show HG00735.hp1 HG00738.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp2 NA18969.hp1 NA18971.hp2 NA18978.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0155 a0001c0001t0001g0190 a0003c0005t0001g0062	22	149	0.1477	40	c.-15 others(59): Show c.-153-1244_-153-1243insCCGACTGCATTCAGACATGGTCAGAG CTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411271	G G	GGGGGGGT others(33): Show GGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	238	0.0042	40	c.-15 others(59): Show c.-153-1245_-153-1244insGCCGACTGCATTCAGACATGGTCAGA GCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412020	C C	CCAGCTCT others(33): Show CCAGCTCTGAACATGTCTGGATACAGTCGGGGGGGGGTGCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG02622.hp1 HG00741.hp1 HG01358.hp1 HG02622.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0133 a0001c0001t0001g0185 a0007c0010t0001g0050 a0001c0001t0001g0133 a0001c0001t0001g0185 a0007c0010t0001g0050	3	235	0.0128	40	c.-15 others(59): Show c.-153-1994_-153-1993insAGCACCCCCCCCCGACTGTATCCAGA CATGTTCAGAGCTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412282	C C	CGGCGGGG others(33): Show CGGCGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	131	0.0076	40	c.-15 others(59): Show c.-153-2256_-153-2255insCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK2_chr11_111597449_111735855	111628416	A A	ATCTTTCT others(33): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01516.hp1 others(4): Show HG00558.hp2 HG00738.hp2 HG01516.hp1 HG01934.hp2 HG02004.hp1 HG03017.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0049	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0002g0030 a0001c0001t0012g0032 a0001c0001t0049g0186	7	29	0.2414	40	c.316 others(57): Show c.316+8051_316+8052insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	116842618	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0321 a0002c0003t0007g0321	1	131	0.0076	40	c.30 others(51): Show c.3024_*3025insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		783		chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAGGAAA others(33): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG02129.hp1 others(2): Show HG01074.hp2 HG01243.hp1 HG02129.hp1 NA19030.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0022 a0001c0002t0004 a0001c0001t0003 a0001c0001t0022 a0001c0002t0004	a0001c0001t0003g0069 a0001c0001t0003g0147 a0001c0001t0003g0161 others(2): Show a0001c0001t0003g0069 a0001c0001t0003g0147 a0001c0001t0003g0161 a0001c0001t0022g0159 a0001c0002t0004g0051	5	38	0.1316	40	c.616 others(57): Show c.616+9352_616+9391dupTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938373	G G	GGAGGAGA others(33): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02647.hp2 HG02148.hp1 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0342 a0002c0003t0001g0353 a0002c0003t0001g0342 a0002c0003t0001g0353	2	301	0.0066	40	c.455 others(59): Show c.455-10994_455-10993insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938378	G G	GGAGGAGA others(33): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0361 a0004c0006t0001g0361	1	224	0.0045	40	c.455 others(59): Show c.455-10999_455-10998insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18948.hp2 HG02129.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0144 a0001c0001t0003g0069 a0001c0001t0003g0144	2	321	0.0062	40	c.274 others(59): Show c.274-56838_274-56837insACACACATACACACACACACACACAC ACACACACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	320	0.0031	40	c.274 others(59): Show c.274-56838_274-56837insACATACACACACACACACACACACAC ACACACACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(33): Show GGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	60	0.0167	40	c.274 others(59): Show c.274-59331_274-59330insTTCCTTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0042 a0003c0005t0004g0042	1	229	0.0044	40	c.274 others(59): Show c.274-63183_274-63182insGTGTATATATATATATATATATATAT ATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02615.hp1 HG02602.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0011 a0001c0001t0003 a0001c0002t0011	a0001c0001t0003g0152 a0001c0002t0011g0056 a0001c0001t0003g0152 a0001c0002t0011g0056	2	230	0.0087	40	c.274 others(59): Show c.274-63183_274-63182insGTATATATATATATATATATATATAT ATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	199	0.0050	40	c.274 others(59): Show c.274-66558_274-66557insATATATATATATATATATATATATAT ATATATATATTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19063.hp2 HG01496.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0052 a0001c0002t0001g0038 a0001c0001t0001g0052 a0001c0002t0001g0038	2	118	0.0169	40	c.-10 others(59): Show c.-10-27596_-10-27595insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	247	0.0040	40	c.-23 others(51): Show c.-2399_-2398insATATATATATATATATATATATTTTTTTTTTTTT TTTTTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SIPA1L2_chr1_232392965_232635133	232584002	A A	AACGTATT others(33): Show AACGTATTAACTCTTCCCCGCTCTCTGTATAAAAACTGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0287 a0001c0005t0003g0287	1	290	0.0034	40	c.-31 others(59): Show c.-318-9820_-318-9781dupGGCCAGTTTTTATACAGAGAGCGGGG AAGAGTTAATACGT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	1/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37968063	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01981.hp2 HG02080.hp2 others(16): Show HG00558.hp2 HG01981.hp2 HG02080.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02896.hp2 HG02970.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 NA18946.hp1 NA18946.hp2 NA18954.hp2 NA18973.hp1 NA19007.hp2 NA19085.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0020 a0004c0011 a0005c0017 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0003t0004 a0001c0004t0003 a0002c0002t0001 a0002c0002t0003 a0002c0020t0001 a0004c0011t0006 a0005c0017t0002 a0010c0013t0001	a0001c0001t0001g0097 a0001c0001t0002g0099 a0001c0001t0002g0108 others(16): Show a0001c0001t0001g0097 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0004g0105 a0001c0001t0004g0127 a0001c0001t0012g0103 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0004t0003g0100 a0002c0002t0001g0083 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0116 a0002c0020t0001g0133 a0004c0011t0006g0142 a0005c0017t0002g0118 a0010c0013t0001g0128	19	95	0.2000	40	c.-37 others(61): Show c.-379+60730_-379+60731insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38196376	G G	GGAGCATG others(33): Show GGAGCATGGAGGTCAAGGGCGGAGCAAGGAGGTCAAGGGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02970.hp1 others(2): Show HG02109.hp2 HG02257.hp2 HG02970.hp1 HG03041.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0012 a0001c0004 a0003c0012	a0001c0004t0003 a0001c0004t0013 a0003c0012t0003 a0001c0004t0003 a0001c0004t0013 a0003c0012t0003	a0001c0004t0003g0070 a0001c0004t0003g0158 a0001c0004t0013g0089 others(2): Show a0001c0004t0003g0070 a0001c0004t0003g0158 a0001c0004t0013g0089 a0003c0012t0003g0160 a0003c0012t0003g0161	5	159	0.0314	40	c.484 others(59): Show c.4841-1994_4841-1993insGGAGCAAGGAGGTCAAGGGCAGAGCA TGGAGGTCAAGGGC	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38196396	A A	AGAGCAAG others(33): Show AGAGCAAGGAGGTCAAGGGCAGAGCATGGAGGTCAAGGGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(73): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG04199.hp1 NA18906.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18973.hp1 NA18979.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19068.hp1 NA19068.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0013 a0015 a0017 a0020 a0021 a0023	a0001c0001 a0001c0003 a0001c0004 others(18): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0030 a0002c0002 a0002c0020 a0003c0005 a0004c0039 a0004c0040 a0006c0010 a0006c0035 a0008c0009 a0009c0018 a0010c0013 a0013c0036 a0015c0034 a0017c0028 a0020c0037 a0021c0023 a0023c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 a0001c0001t0025 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0004t0003 a0001c0006t0009 a0001c0006t0010 a0001c0030t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0015 a0002c0002t0020 a0002c0020t0001 a0003c0005t0003 a0003c0005t0011 a0004c0039t0001 a0004c0040t0004 a0006c0010t0004 a0006c0035t0001 a0008c0009t0001 a0008c0009t0007 a0009c0018t0004 a0009c0018t0016 a0010c0013t0001 a0013c0036t0004 a0015c0034t0001 a0017c0028t0001 a0020c0037t0001 a0021c0023t0002 a0023c0019t0003	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 others(73): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0004g0127 a0001c0001t0012g0103 a0001c0001t0021g0045 a0001c0001t0025g0095 a0001c0003t0001g0092 a0001c0003t0001g0144 a0001c0003t0001g0153 a0001c0003t0004g0026 a0001c0003t0004g0049 a0001c0003t0004g0091 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0003t0004g0124 a0001c0003t0007g0043 a0001c0003t0007g0067 a0001c0003t0007g0120 a0001c0003t0007g0148 a0001c0003t0007g0154 a0001c0004t0003g0032 a0001c0004t0003g0033 a0001c0004t0003g0100 a0001c0006t0009g0140 a0001c0006t0009g0141 a0001c0006t0010g0084 a0001c0006t0010g0085 a0001c0030t0001g0080 a0002c0002t0001g0014 a0002c0002t0001g0063 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0002g0051 a0002c0002t0003g0017 a0002c0002t0003g0025 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0116 a0002c0002t0003g0147 a0002c0002t0015g0117 a0002c0002t0020g0038 a0002c0020t0001g0133 a0003c0005t0003g0109 a0003c0005t0003g0138 a0003c0005t0011g0030 a0003c0005t0011g0163 a0004c0039t0001g0123 a0004c0040t0004g0042 a0006c0010t0004g0012 a0006c0010t0004g0013 a0006c0010t0004g0053 a0006c0035t0001g0016 a0008c0009t0001g0011 a0008c0009t0007g0020 a0008c0009t0007g0034 a0009c0018t0004g0018 a0009c0018t0016g0155 a0010c0013t0001g0050 a0010c0013t0001g0128 a0013c0036t0004g0056 a0015c0034t0001g0081 a0017c0028t0001g0040 a0020c0037t0001g0129 a0021c0023t0002g0019 a0023c0019t0003g0146	76	157	0.4841	40	c.484 others(59): Show c.4841-1954_4841-1953insGGAGCAAGGAGGTCAAGGGCAGAGCA TGGAGGTCAAGGGC	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPB2_chr20_1469578_1496420	1482526	T T	TCTTCCTT others(33): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	369	0.0027	40	c.86- others(55): Show c.86-2462_86-2461insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	SIRPB2	ENSG00000196209.13	transcript	ENST00000359801.8	protein_coding	1/4			chr20	TogoVar
SIRPB2_chr20_1469578_1496420	1482534	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0060 a0004c0004t0004g0060	1	370	0.0027	40	c.86- others(55): Show c.86-2470_86-2469insAAAGGAAGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	SIRPB2	ENSG00000196209.13	transcript	ENST00000359801.8	protein_coding	1/4			chr20	TogoVar
SIRT3_chr11_210030_241342	234398	A A	AAGGATTT others(33): Show AAGGATTTTCCATTGCATGGCCGCTTTAGTCCAGTGGCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	412	0.0024	40	c.282 others(55): Show c.282-865_282-864insAGAGCCACTGGACTAAAGCGGCCATGCAAT GGAAAATCCT	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	1/6			chr11	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	22	0.0455	40	c.21 others(51): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA18974.hp2 NA19090.hp1 HG02965.hp2 NA18974.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0134 a0001c0001t0001g0158 a0001c0001t0007g0305 a0001c0001t0001g0134 a0001c0001t0001g0158 a0001c0001t0007g0305	3	97	0.0309	40	c.47 others(51): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(33): Show TACATACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	95	0.0105	40	c.47 others(51): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(33): Show TACATACATACATACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19074.hp1 NA19030.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0090 a0001c0001t0001g0065 a0001c0001t0001g0090	2	96	0.0208	40	c.47 others(51): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTAT GTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(33): Show TACATACATACATATACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01361.hp2 HG02735.hp2 others(1): Show HG01099.hp2 HG01361.hp2 HG02735.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0002g0144 others(1): Show a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0002g0144 a0001c0001t0006g0338	4	98	0.0408	40	c.47 others(51): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTAT GTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLAIN1_chr13_77692687_77769229	77704278	A A	ATATATAC others(33): Show ATATATACATATGTTTTATATGTATATATACATAGAAACTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01175.hp1 others(3): Show HG01167.hp2 HG01169.hp1 HG01175.hp1 HG03209.hp2 NA18962.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0080	6	269	0.0223	40	c.626 others(57): Show c.626+5749_626+5750insTGTTTTATATGTATATATACATAGAAAC TGTATATACATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704287	T T	TAGGTTTT others(33): Show TAGGTTTTATATGTATATATACATAGAAACTGTATATACAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp2 others(66): Show HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02165.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG03098.hp2 HG03516.hp2 HG03710.hp1 HG03831.hp1 HG04184.hp2 NA18944.hp2 NA18952.hp1 NA18959.hp2 NA18961.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19059.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19077.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(61): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0178 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0004t0001g0015 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170	69	270	0.2556	40	c.626 others(57): Show c.626+6491_626+6530dupTAGAAACTGTATATACAGAGGTTTTATA TGTATATATACA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704438	G G	GTATATAC others(33): Show GTATATACAGAGGTTTTATATGTATATATACATAGAAACTA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	227	0.0044	40	c.626 others(57): Show c.626+5938_626+5939insATATATACAGAGGTTTTATATGTATATA TACATAGAAACT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704607	G G	GAGGTTTT others(33): Show GAGGTTTTATATGTATATATACATAGAAACTGTATATACAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	283	0.0035	40	c.626 others(57): Show c.626+6107_626+6108insTAGGTTTTATATGTATATATACATAGAA ACTGTATATACA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp2 NA18974.hp1 HG00280.hp2 HG01109.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0151 a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0151	3	78	0.0385	40	c.377 others(57): Show c.377+5913_377+5952dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATAATTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	74	0.0135	40	c.104 others(59): Show c.1049-4100_1049-4099insATATATATATATATATATATATATAT ATATATAATTTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070208	G G	GGCATCAC others(33): Show GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0078 a0001c0006t0011g0079 a0001c0006t0011g0078 a0001c0006t0011g0079	2	116	0.0172	40	c.224 others(59): Show c.2241+3424_2241+3425insGTGTGCTGGGGGCTCACTGGGGGCTG CATAAGTGTGATGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070515	C C	CCCCCAGT others(33): Show CCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0001 a0001c0007t0012g0001	1	118	0.0085	40	c.224 others(59): Show c.2241+3117_2241+3118insCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070642	C C	CTTATGCA others(33): Show CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0080 a0002c0008t0004g0080	1	118	0.0085	40	c.224 others(59): Show c.2241+2990_2241+2991insATGTGATGCCGTGTGCTGGGGGCTCA CTGGGGCTGCATAA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071015	G G	GGTATCAC others(33): Show GGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0075 a0002c0012t0003g0075	1	117	0.0085	40	c.224 others(59): Show c.2241+2617_2241+2618insGTGTGCTGGGGGCTCACTGGGGGCTG CATAAGTGTGATAC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar

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