Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SIGIRR_chr11_400716_419999	412165	C C	CGGTGGGG others(40): Show CGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGGTGGGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	54	0.0185	47	c.-15 others(66): Show c.-153-2139_-153-2138insCCCCACCGACTGTATCCAGACATGGT CAGAGCTGGGCAACCCCCACC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305703	A A	AGATGGGG others(40): Show AGATGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	302	0.0033	47	c.173 others(66): Show c.1735-7987_1735-7986insATGGGGGGTCAGCCCCGACGCCCGGC CAGCCGTGCCATCCGGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0229 a0002c0004t0001g0229	1	194	0.0052	47	c.46+ others(64): Show c.46+16551_46+16552insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	194	0.0052	47	c.46+ others(64): Show c.46+16551_46+16552insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	194	0.0052	47	c.46+ others(64): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC12A6_chr15_34224784_34342781	34310787	T T	TGTGTGTG others(40): Show TGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG04115.hp1 NA18990.hp1 others(2): Show HG01361.hp2 HG04115.hp1 NA18990.hp1 NA19074.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0011 a0001c0002 a0001c0006 a0002c0011	a0001c0002t0002 a0001c0006t0029 a0002c0011t0002 others(1): Show a0001c0002t0002 a0001c0006t0029 a0002c0011t0002 a0002c0011t0030	a0001c0002t0002g0224 a0001c0002t0002g0249 a0001c0006t0029g0243 others(2): Show a0001c0002t0002g0224 a0001c0002t0002g0249 a0001c0006t0029g0243 a0002c0011t0002g0212 a0002c0011t0030g0240	5	272	0.0184	47	c.271 others(66): Show c.271+25622_271+25623insTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGGACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC13A3_chr20_46552828_46656459	46626830	A A	AGGCCTTT others(40): Show AGGCCTTTTCCCCCGTCCAGGTCTTTGCACCTGCTGTTCCCTCTGCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02129.hp1 others(14): Show HG00639.hp1 HG01109.hp2 HG02129.hp1 HG02148.hp1 HG02293.hp1 HG02970.hp2 HG03017.hp2 HG03225.hp1 HG03486.hp2 NA18955.hp1 NA18970.hp1 NA18979.hp2 NA19004.hp2 NA19066.hp1 NA19083.hp1 NA19088.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0009	a0001c0001t0001g0070 a0001c0001t0001g0252 a0001c0001t0001g0357 others(14): Show a0001c0001t0001g0070 a0001c0001t0001g0252 a0001c0001t0001g0357 a0001c0001t0002g0066 a0001c0001t0003g0069 a0001c0001t0003g0151 a0001c0001t0003g0197 a0001c0002t0001g0145 a0001c0002t0001g0166 a0001c0002t0002g0123 a0001c0002t0003g0215 a0001c0003t0004g0146 a0001c0003t0004g0325 a0001c0003t0007g0143 a0001c0003t0007g0150 a0001c0003t0007g0152 a0001c0003t0009g0109	17	388	0.0438	47	c.112 others(66): Show c.112-13152_112-13106dupAGGCAGAGGGAACAGCAGGTGCAAAG ACCTGGACGGGGGAAAAGGCC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC16A2_chrX_74416493_74538916	74439158	C C	CTCTTTCT others(40): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	131	0.0076	47	c.430 others(66): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439161	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02615.hp2 HG02818.hp1 others(5): Show HG02523.hp1 HG02615.hp2 HG02818.hp1 HG02895.hp1 HG03688.hp1 HG04115.hp1 NA19060.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0140 others(5): Show a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0223 a0001c0001t0001g0225 a0002c0002t0001g0089	8	218	0.0367	47	c.430 others(66): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439165	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG03139.hp1 others(2): Show HG01884.hp2 HG02622.hp1 HG03139.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0004t0001g0095	5	226	0.0221	47	c.430 others(66): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TCTTTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439169	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02922.hp1 HG01978.hp2 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0107 a0002c0002t0001g0069 a0002c0002t0001g0107	2	210	0.0095	47	c.430 others(66): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439186	T T	TTCTTTCT others(40): Show TTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	219	0.0046	47	c.430 others(66): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTTTCTTTCTTTTTCT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	240	0.0042	47	c.184 others(64): Show c.184-2009_184-2008insCCTTCCTTCCTTCCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	240	0.0042	47	c.184 others(64): Show c.184-2009_184-2008insCCTTCCTTCCTTCCTTCCTTCCTTCTTT CTTTCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792291	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	265	0.0038	47	c.184 others(64): Show c.184-2020_184-2019insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792356	G G	GAAAGAAG others(40): Show GAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0058 a0003c0006t0005g0058	1	256	0.0039	47	c.184 others(64): Show c.184-2085_184-2084insTCTTTCTTTCTCTTTCTTTCTTTCCTTC TTTCCTTCTTTCCTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC24A2_chr9_19502455_19794037	19636283	T T	TTCCTTTC others(40): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0156 a0001c0005t0024g0156	1	184	0.0054	47	c.931 others(66): Show c.931-13985_931-13984insGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC25A21_chr14_36672921_37177606	36789785	T T	TTTATATA others(40): Show TTTATATATAATACATTTTATATATTTATATATAATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02258.hp2 others(8): Show HG01891.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02895.hp2 HG02976.hp2 HG03098.hp2 HG03516.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0002t0007 a0002c0003t0008	a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0004g0002 others(8): Show a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0004g0002 a0001c0001t0004g0059 a0001c0001t0005g0122 a0001c0001t0009g0024 a0001c0001t0010g0049 a0001c0001t0010g0131 a0001c0001t0018g0136 a0001c0002t0007g0046 a0002c0003t0008g0117	11	164	0.0671	47	c.203 others(66): Show c.203+24132_203+24133insTATATAAAATATATTATATATAAATA TATAAAATGTATTATATATAA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC2A14_chr12_7807514_7877915	7826853	C C	CCTTCCTT others(40): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0212 a0001c0006t0004g0212	1	220	0.0045	47	c.864 others(62): Show c.864+641_864+642insAAAAAAGAAAGAAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7874788	A A	AATACATA others(40): Show AATACATATATAAATATGTATATAAAAATTATATATAAATACATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0294 a0001c0004t0001g0294	1	308	0.0032	47	c.-20 others(58): Show c.-2040_-2039insAAATATGTATTTATATATAATTTTTATATACATA TTTATATATGTAT	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding		1874		chr12	TogoVar
SLC35G3_chr17_35187520_35199393	35195099	G G	GGGGGCTG others(40): Show GGGGGCTGACCCCCCACCTCCCTCCCGCACGGGGCGGCTGGCCGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(176): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18974.hp1 NA18976.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0003c0003 a0005c0007 a0008c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0005t0008 a0001c0005t0010 a0001c0006t0001 a0003c0003t0005 a0005c0007t0001 a0008c0013t0002	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(12): Show a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0016g0000 a0001c0001t0018g0000 a0001c0005t0008g0000 a0001c0005t0010g0000 a0001c0006t0001g0000 a0003c0003t0005g0000 a0005c0007t0001g0000 a0008c0013t0002g0000	179	474	0.3776	47	c.-79 others(56): Show c.-793_-792insTGCCCGGCCAGCCGCCCCGTGCGGGAGGGAGGTGGG GGGTCAGCCCC	SLC35G3	ENSG00000164729.8	transcript	ENST00000297307.7	protein_coding		707		chr17	TogoVar
SLC35G5_chr8_11326012_11337360	11330110	G G	GTCAGCCC others(40): Show GTCAGCCCCCGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTCGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00673.hp1 others(58): Show HG00597.hp1 HG00597.hp2 HG00673.hp1 HG01074.hp1 HG01168.hp2 HG01257.hp2 HG01258.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02818.hp2 HG03486.hp1 HG03704.hp1 HG03942.hp1 NA18612.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18951.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18968.hp2 NA18972.hp1 NA18976.hp1 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18991.hp1 NA18995.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19059.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0026 a0003c0003 a0009c0026	a0003c0003t0003 a0009c0026t0003 a0003c0003t0003 a0009c0026t0003	a0003c0003t0003g0000 a0009c0026t0003g0000 a0003c0003t0003g0000 a0009c0026t0003g0000	61	420	0.1452	47	c.-99 others(56): Show c.-997_-996insTCAGCCCCCGCCCGGCCAGCAGCCCCGTCCGGGAGG GAGGTCGGGGA	SLC35G5	ENSG00000177710.6	transcript	ENST00000382435.5	protein_coding		901		chr8	TogoVar
SLC37A1_chr21_42508852_42586426	42582916	A A	ACTTGCCG others(40): Show ACTTGCCGTCCTGTGGAAGCGTGGCTCTGCCTGTCACGCATGTCTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(117): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18941.hp2 NA18943.hp1 NA18959.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18982.hp2 NA18983.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp1 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0018 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0003t0005 a0001c0003t0015 a0001c0003t0016 a0001c0003t0018 a0001c0003t0027 a0001c0003t0038 a0001c0008t0005 a0001c0009t0001 a0001c0018t0005 a0002c0002t0009 a0005c0006t0018	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(103): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0221 a0001c0001t0004g0178 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0006g0030 a0001c0001t0006g0048 a0001c0001t0006g0215 a0001c0001t0007g0014 a0001c0001t0007g0097 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0037 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0009g0090 a0001c0001t0009g0258 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0009g0308 a0001c0001t0011g0189 a0001c0001t0020g0015 a0001c0001t0025g0012 a0001c0001t0026g0043 a0001c0001t0026g0044 a0001c0001t0031g0118 a0001c0001t0032g0001 a0001c0001t0034g0049 a0001c0001t0043g0016 a0001c0001t0044g0045 a0001c0001t0049g0206 a0001c0001t0050g0095 a0001c0003t0005g0223 a0001c0003t0005g0224 a0001c0003t0015g0187 a0001c0003t0016g0186 a0001c0003t0016g0191 a0001c0003t0016g0192 a0001c0003t0018g0018 a0001c0003t0027g0019 a0001c0003t0038g0194 a0001c0008t0005g0227 a0001c0008t0005g0228 a0001c0009t0001g0002 a0001c0009t0001g0112 a0001c0009t0001g0114 a0001c0018t0005g0087 a0002c0002t0009g0313 a0005c0006t0018g0081	120	353	0.3399	47	c.25 others(58): Show c.2556_*2557insCTTGCCGTCCTGTGGAAGCGTGGCTCTGCCTGTC ACGCATGTCTGCG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding		1491		chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42582916	A A	ACTTGCCG others(40): Show ACTTGCCGTCCTGTGGAAGCGTGGCTCTGCCTGTCACGTATGTCTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0106 a0001c0001t0020g0106	1	234	0.0043	47	c.25 others(58): Show c.2556_*2557insCTTGCCGTCCTGTGGAAGCGTGGCTCTGCCTGTC ACGTATGTCTGCG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding		1491		chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42582962	C C	CGCTTGCC others(40): Show CGCTTGCCGTCCTGTGGAAGCGTGGCTCTGCCTGTCACGCACGTCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00642.hp1 others(23): Show HG00099.hp1 HG00639.hp2 HG00642.hp1 HG01069.hp2 HG01175.hp2 HG02129.hp2 HG02559.hp2 HG02615.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18961.hp1 NA19001.hp1 NA19004.hp2 NA19043.hp1 NA20129.hp1 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0013 a0003c0005 a0004c0010	a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 others(10): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0003t0005 a0001c0003t0015 a0001c0003t0022 a0001c0003t0030 a0001c0004t0005 a0001c0008t0005 a0001c0013t0014 a0003c0005t0016 a0004c0010t0004	a0001c0001t0006g0230 a0001c0001t0007g0005 a0001c0001t0007g0098 others(20): Show a0001c0001t0006g0230 a0001c0001t0007g0005 a0001c0001t0007g0098 a0001c0001t0007g0124 a0001c0001t0014g0077 a0001c0001t0014g0079 a0001c0001t0017g0024 a0001c0003t0005g0226 a0001c0003t0015g0021 a0001c0003t0015g0193 a0001c0003t0022g0212 a0001c0003t0022g0213 a0001c0003t0030g0287 a0001c0003t0030g0289 a0001c0004t0005g0131 a0001c0004t0005g0159 a0001c0004t0005g0160 a0001c0004t0005g0161 a0001c0008t0005g0229 a0001c0013t0014g0078 a0001c0013t0014g0080 a0003c0005t0016g0199 a0004c0010t0004g0182	26	203	0.1281	47	c.26 others(58): Show c.2602_*2603insGCTTGCCGTCCTGTGGAAGCGTGGCTCTGCCTGT CACGCACGTCTGT	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding		1537		chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42583046	C C	CGCACGTC others(40): Show CGCACGTCTGCGCTTGCCGTCCTGTGGAAGCGTGGCTCTCCCTGTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02683.hp1 HG02738.hp2 others(14): Show HG02083.hp1 HG02683.hp1 HG02738.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18944.hp2 NA18949.hp2 NA18954.hp1 NA18966.hp2 NA18967.hp1 NA18979.hp2 NA18988.hp1 NA18998.hp1 NA19057.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0042 a0001c0004t0001 a0001c0001t0001 a0001c0001t0042 a0001c0004t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0042g0137 others(14): Show a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0042g0137 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0133 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0149 a0001c0004t0001g0151 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0176	17	354	0.0480	47	c.26 others(58): Show c.2686_*2687insGCACGTCTGCGCTTGCCGTCCTGTGGAAGCGTGG CTCTCCCTGTCAT	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding		1621		chr21	TogoVar
SLC38A10_chr17_81239811_81300307	81251811	G G	GTGGCAAT others(40): Show GTGGCAATGAGCCAATGGTAACTGCCTTCGCAATTAAAATGCAAGAAC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0147 a0001c0002t0004g0147	1	212	0.0047	47	c.194 others(64): Show c.1946-246_1946-200dupGTTCTTGCATTTTAATTGCGAAGGCAGT TACCATTGGCTCATTGCCA	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	13/15			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403524	G G	GAGGAAGA others(40): Show GAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0124 a0001c0001t0017g0124	1	323	0.0031	47	c.42 others(58): Show c.4267_*4268insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCCT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3429		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403530	G G	GAAGAAGA others(40): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0102	1	322	0.0031	47	c.42 others(58): Show c.4261_*4262insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3423		chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203248	A A	AGAGAGAG others(40): Show AGAGAGAGAGAGAGAGAGCGAGGAGAGAGGAGAGGGGGAGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0028 a0001c0014t0028	a0001c0014t0028g0029 a0001c0014t0028g0029	1	178	0.0056	47	c.83 others(58): Show c.8323_*8324insCACGGTCTCTCCCCCTCTCCTCTCTCCTCGCTCT CTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3925		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203471	A A	AGAGGGAG others(40): Show AGAGGGAGAGAGAGAGAGAGGGGAGAGAGGGAGAGAGGGAGAGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0111 a0002c0005t0012g0111	1	178	0.0056	47	c.81 others(58): Show c.8100_*8101insCCCTCCTCTCCCTCTCTCCCTCTCTCCCCTCTCT CTCTCTCTCCCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3702		chr8	TogoVar
SLC4A1_chr17_44243390_44273135	44263707	C C	CTCCCTTC others(40): Show CTCCCTTCCCTCCTTCCCTCCCTTCCCTCCCTTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp1 HG02647.hp2 HG03540.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0009 a0003c0004t0004 a0002c0002t0009 a0003c0004t0004	a0002c0002t0009g0099 a0003c0004t0004g0240 a0002c0002t0009g0099 a0003c0004t0004g0240	2	29	0.0690	47	c.-68 others(62): Show c.-68-774_-68-773insAGGAAGGAAGGAGGGAAGGGAGGGAAGGGA GGGAAGGAGGGAAGGGA	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC5A2_chr16_31478123_31495769	31493195	T T	TACACACC others(40): Show TACACACCAAATCCATCCTTTCTTCCTGTATCCAGTCATCCAACTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	404	0.0025	47	c.26 others(58): Show c.2660_*2661insACACACCAAATCCATCCTTTCTTCCTGTATCCAG TCATCCAACTTCC	SLC5A2	ENSG00000140675.13	transcript	ENST00000330498.4	protein_coding		2427		chr16	TogoVar
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	174	0.0057	47	c.278 others(64): Show c.278-1287_278-1286insAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC9A2_chr2_102614553_102716355	102695801	T T	TATATATT others(40): Show TATATATTATATATATATTATATATATATAATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG02486.hp2 others(2): Show HG01192.hp1 HG01192.hp2 HG02486.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0016 a0001c0003t0003 a0001c0001t0003 a0001c0001t0016 a0001c0003t0003	a0001c0001t0003g0022 a0001c0001t0003g0037 a0001c0001t0003g0212 others(2): Show a0001c0001t0003g0022 a0001c0001t0003g0037 a0001c0001t0003g0212 a0001c0001t0016g0293 a0001c0003t0003g0012	5	313	0.0160	47	c.158 others(64): Show c.1586+694_1586+695insTATATATATATTATATATATATAATATA TATTATATATATAATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A8_chr20_49807828_49897242	49884288	C C	CACACACA others(40): Show CACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	157	0.0064	47	c.149 others(64): Show c.1491+222_1491+223insACACACACACACACACACACACACACAC ACACACACACACACACACA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15			chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(40): Show TAGATAGATAGATAGATGATAGATAGATTGATTGATTAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0155 a0002c0003t0009g0155	1	96	0.0104	47	c.647 others(66): Show c.647-78627_647-78626insAGATAGATAGATAGATGATAGATAGA TTGATTGATTAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(40): Show TAGATAGATAGATGATAGATAGATTGATTGATTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0159 a0001c0001t0055g0159	1	96	0.0104	47	c.647 others(66): Show c.647-78627_647-78626insAGATAGATAGATGATAGATAGATTGA TTGATTAGATAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	31	0.0323	47	c.299 others(66): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	31	0.0323	47	c.299 others(66): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18953.hp1 HG02015.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0332 a0001c0001t0002g0276 a0001c0001t0002g0332	2	32	0.0625	47	c.299 others(66): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTGTT TTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850239	T T	TTATATAT others(40): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01109.hp1 others(35): Show HG00544.hp1 HG00609.hp1 HG01109.hp1 HG01257.hp1 HG01358.hp1 HG01928.hp1 HG01943.hp1 HG02015.hp2 HG02071.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG04228.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18952.hp2 NA18954.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp1 NA19068.hp2 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(25): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0001t0027 a0001c0001t0036 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0172 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178	a0001c0001t0003g0140 a0001c0001t0003g0148 a0001c0001t0003g0150 others(34): Show a0001c0001t0003g0140 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0169 a0001c0001t0004g0126 a0001c0001t0004g0131 a0001c0001t0004g0151 a0001c0001t0004g0159 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0152 a0001c0001t0026g0136 a0001c0001t0026g0163 a0001c0001t0027g0002 a0001c0001t0036g0003 a0001c0001t0149g0132 a0001c0001t0150g0129 a0001c0001t0151g0124 a0001c0001t0153g0157 a0001c0001t0154g0170 a0001c0001t0155g0141 a0001c0001t0156g0153 a0001c0001t0157g0128 a0001c0001t0159g0138 a0001c0001t0160g0158 a0001c0001t0161g0154 a0001c0001t0162g0156 a0001c0001t0165g0139 a0001c0001t0166g0155 a0001c0001t0167g0149 a0001c0001t0168g0130 a0001c0001t0172g0161 a0001c0001t0174g0145 a0001c0001t0175g0167 a0001c0001t0176g0144 a0001c0001t0177g0165 a0001c0001t0178g0137	38	156	0.2436	47	c.784 others(64): Show c.784+1034_784+1035insTATAATATATAATATATATTATACATAA TATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850474	T T	TAATATAT others(40): Show TAATATATGTTATATATATAATATATATTATGTATAATATATGTTATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03942.hp2 HG02015.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0245 a0001c0001t0155 a0001c0001t0245	a0001c0001t0155g0141 a0001c0001t0245g0127 a0001c0001t0155g0141 a0001c0001t0245g0127	2	287	0.0070	47	c.784 others(62): Show c.784+799_784+800insTATAACATATATTATACATAATATATATTA TATATATAACATATATT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMYD3_chr1_245744347_246512279	245992654	G G	GGTCATGG others(40): Show GGTCATGGATCGGCCACTTCTAGAATGGCGGTCATGGGGCCTGGAGTA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	150	0.0067	47	c.532 others(66): Show c.532-62718_532-62717insTACTCCAGGCCCCATGACCGCCATTC TAGAAGTGGCCGATCCATGAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245992713	C C	CCCACTTC others(40): Show CCCACTTCTAGAATGGCGGTCATGGGGCCTGGAGTGGTCATGGATCGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00597.hp2 others(38): Show HG00140.hp2 HG00423.hp2 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02109.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 NA18522.hp2 NA18963.hp1 NA18965.hp2 NA18984.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(9): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0001c0011t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0031 others(38): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0080 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0069 a0001c0002t0001g0012 a0001c0002t0001g0022 a0001c0002t0001g0056 a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0002g0040 a0001c0002t0002g0061 a0001c0006t0001g0060 a0001c0006t0001g0068 a0001c0006t0001g0081 a0001c0009t0001g0002 a0001c0011t0002g0018 a0001c0014t0002g0055 a0002c0003t0001g0127 a0002c0003t0002g0104 a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0003t0002g0129 a0002c0003t0002g0147 a0002c0004t0001g0128 a0002c0005t0001g0113 a0002c0005t0001g0115 a0002c0005t0002g0106 a0002c0007t0001g0135 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142 a0002c0017t0001g0139	41	118	0.3475	47	c.532 others(66): Show c.532-62823_532-62777dupCCGATCCATGACCACTCCAGGCCCCA TGACCGCCATTCTAGAAGTGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246378822	T T	TATATATT others(40): Show TATATATTATATATAATTATATATAATATATTTATATAGTATATATAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0148 a0002c0003t0001g0148	1	150	0.0067	47	c.165 others(66): Show c.165-23729_165-23728insTTATATATACTATATAAATATATTAT ATATAATTATATATAATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478334	C C	CACATAAG others(40): Show CACATAAGTGCTCATATATGCACACCTGTCCTCTGTCCTGGAGCTGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(63): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03491.hp1 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA19000.hp2 NA19057.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0003c0015 a0004c0010 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0003c0015t0002 a0004c0010t0001 a0005c0013t0002	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0023 others(63): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0002t0001g0012 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0086 a0001c0002t0002g0024 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0048 a0001c0002t0002g0061 a0001c0002t0002g0083 a0001c0006t0001g0060 a0001c0006t0001g0071 a0001c0009t0001g0002 a0001c0011t0002g0018 a0001c0012t0002g0057 a0001c0014t0002g0055 a0003c0015t0002g0094 a0004c0010t0001g0077 a0005c0013t0002g0050	66	150	0.4400	47	c.164 others(66): Show c.164+28673_164+28719dupACCAGCTCCAGGACAGAGGACAGGTG TGCATATATGAGCACTTATGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478461	T T	TGTCCTGG others(40): Show TGTCCTGGAGCTGGTACATAAGTGCTCATATATGCACACCTGTCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0014 a0001c0006t0001g0014	1	110	0.0091	47	c.164 others(66): Show c.164+28592_164+28593insGGAGGACAGGTGTGCATATATGAGCA CTTATGTACCAGCTCCAGGAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478792	C C	CCTGGAGC others(40): Show CCTGGAGCTGGTACGTAAGTGCTCATATATGCACACCTGTCCTCCGTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	115	0.0087	47	c.164 others(66): Show c.164+28261_164+28262insAACGGAGGACAGGTGTGCATATATGA GCACTTACGTACCAGCTCCAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGAAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	239	0.0042	47	c.-31 others(58): Show c.-3199_-3198insGGCAAACCCCACCCCTTGCTTCCTGGGACCCTGT CCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar

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