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
RGS22_chr8_99955936_100111049	100051600	TATTTATA others(105): Show TATTTATATATGTTTATACATATATAAATATATATTTATATATGTTTATA CATATATAAATATATATTTATATATGTTTATACATATATATATTTATATA TACGTATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG01243.hp1 others(9): Show HG00733.hp1 HG00738.hp2 HG01243.hp1 HG01884.hp1 HG02615.hp1 HG02809.hp2 HG02965.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0004t0006 a0001c0001t0001 a0001c0004t0002 a0001c0004t0006	a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0004t0002g0114 others(9): Show a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0004t0002g0114 a0001c0004t0002g0115 a0001c0004t0002g0116 a0001c0004t0002g0119 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0004t0002g0122 a0001c0004t0002g0123 a0001c0004t0002g0127 a0001c0004t0006g0308	12	308	0.0390	-112	c.168 others(19): Show c.1689+1090_1689+1201del	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS22_chr8_99955936_100111049	100051905	TTATATAT others(105): Show TTATATATTTATATATAAATGTTTATATATATTTATATATTTATATATAA ATGTTTATATATATTTATATATAAATGTTTATATATATTTATATATTTAT ATATAAATGTTTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	285	0.0035	-112	c.168 others(17): Show c.1689+785_1689+896del	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RILPL1_chr12_123465054_123538719	123521563	TAATATAT others(105): Show TAATATATATACACACATATGTGTATATATATATTAATATATATACACAC ATATGTGTATATATATACACACATATGTGTATATATATACACATATATGT ATATATATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0157 a0002c0003t0021g0157	1	206	0.0049	-112	c.460 others(17): Show c.460+1820_460+1931del	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RILPL1_chr12_123465054_123538719	123521583	GTGTATAT others(105): Show GTGTATATATATATTAATATATATACACACATATGTGTATATATATACAC ACATATGTGTATATATATACACATATATGTATATATATAAATATATATAT ATACACACATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG00741.hp2 others(20): Show HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01167.hp2 HG01175.hp1 HG01261.hp2 HG01516.hp1 HG02145.hp1 HG02257.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03831.hp2 NA18522.hp2 NA19005.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0005 a0001c0004t0007 a0001c0004t0016 a0001c0004t0023 a0001c0004t0029 a0001c0004t0030 a0001c0004t0031 a0001c0004t0032	a0001c0001t0001g0132 a0001c0001t0004g0126 a0001c0004t0005g0191 others(20): Show a0001c0001t0001g0132 a0001c0001t0004g0126 a0001c0004t0005g0191 a0001c0004t0005g0192 a0001c0004t0005g0193 a0001c0004t0005g0195 a0001c0004t0005g0197 a0001c0004t0005g0198 a0001c0004t0005g0199 a0001c0004t0005g0205 a0001c0004t0005g0207 a0001c0004t0007g0200 a0001c0004t0007g0201 a0001c0004t0007g0202 a0001c0004t0007g0203 a0001c0004t0007g0209 a0001c0004t0016g0196 a0001c0004t0016g0204 a0001c0004t0023g0187 a0001c0004t0029g0206 a0001c0004t0030g0194 a0001c0004t0031g0208 a0001c0004t0032g0189	23	208	0.1106	-112	c.460 others(17): Show c.460+1800_460+1911del	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RNH1_chr11_489515_512242	491674	ACTGTGTT others(105): Show ACTGTGTTTGTCCCAGGCTGGCAGACACTGGGCAGTGGACACAGGATTCC TGGGGTGCTGTGTTTGTCCCAGGCTGGCAGACACTGGGCAGTGGACACAG GATTCCTGGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00733.hp1 others(20): Show HG00099.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 NA18948.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0001 a0003c0004t0003g0031 a0003c0004t0003g0032 others(11): Show a0001c0001t0001g0001 a0003c0004t0003g0031 a0003c0004t0003g0032 a0003c0004t0003g0033 a0003c0004t0003g0059 a0003c0004t0003g0158 a0003c0004t0003g0159 a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0004t0003g0165 a0003c0004t0003g0166 a0003c0004t0003g0167	23	267	0.0861	-112	c.29 others(11): Show c.2905_*3016del	RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding		2840		chr11	TogoVar
RPH3AL_chr17_207389_357807	272967	TGAGACCC others(105): Show TGAGACCCCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCGACA TCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA20905.hp1 HG02738.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0014g0025 a0001c0002t0002g0038 a0001c0001t0014g0025 a0001c0002t0002g0038	2	59	0.0339	-112	c.438 others(17): Show c.438+8689_438+8800del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RTN1_chr14_59590983_59875776	59687351	AATTCAGA others(105): Show AATTCAGAGCACCCCCTTGCCTGGATCAGTAGTCGGAGCCAGCCTATCCT TCCTGTGCATAGATCATGGTATGAGGGGCCCTCTCTGCTCTACATGTAGG CAGATCTCCAGGC	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18944.hp1 HG02155.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0166 a0001c0001t0001g0011 a0001c0001t0001g0166	2	170	0.0118	-112	c.176 others(21): Show c.1765+39456_1765+39567del	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	3/8			chr14	TogoVar
RTN4R_chr22_20236415_20273318	20240529	CCCGGCCG others(105): Show CCCGGCCGCCCCCACGACCATCTGGCTTCACCAGCAACGCTCCCCCACAC CCTCCCCCACGTCACTGTTTTTCTCCCTCTCCCCCTCCCCAGCCACTGCC CTGGCGGGGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	390	0.0026	-112	c.10 others(11): Show c.1070_*1181del	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding		885		chr22	TogoVar
SAMD11_chr1_918923_949574	934133	GCGTTACA others(105): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCA GGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 NA21309.hp1 HG02451.hp2 HG02717.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0049 a0001c0002 a0002c0003 a0002c0049	a0001c0002t0002 a0002c0003t0004 a0002c0049t0004 a0001c0002t0002 a0002c0003t0004 a0002c0049t0004	a0001c0002t0002g0353 a0002c0003t0004g0222 a0002c0049t0004g0221 a0001c0002t0002g0353 a0002c0003t0004g0222 a0002c0049t0004g0221	3	410	0.0073	-112	c.843 others(17): Show c.843-1568_843-1457del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934721	GCGTTACA others(105): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	409	0.0024	-112	c.843 others(16): Show c.843-1008_843-897del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934764	AGGGGAGG others(105): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	267	0.0037	-112	c.843 others(15): Show c.843-980_843-869del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133669088	CTCTCCCT others(105): Show CTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCT CTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCT CCCTCACCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0061 a0003c0061	a0003c0061t0001 a0003c0061t0001	a0003c0061t0001g0223 a0003c0061t0001g0223	1	256	0.0039	-112	c.249 others(19): Show c.2495+1384_2495+1495del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	CTCTTTCT others(105): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG03490.hp1 HG03490.hp2 others(4): Show HG00558.hp2 HG03490.hp1 HG03490.hp2 NA18941.hp1 NA18941.hp2 NA18957.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0021 a0001c0001t0001g0207 a0001c0001t0001g0222 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0207 a0001c0001t0001g0222 a0001c0001t0003g0006 a0001c0001t0003g0229 a0001c0001t0003g0242 a0001c0001t0013g0039	7	200	0.0350	-112	c.-47 others(11): Show c.-4727_-4616del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCGB1C2_chr17_132569_144067	136264	ACCTAACC others(105): Show ACCTAACCCTAACCCTAACCCCTAACCCCTAACCAACCCTAACCCTAACC CTAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACC CTAACCCCTAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01070.hp2 others(57): Show HG00639.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18943.hp1 NA18961.hp2 NA18982.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0003 a0002c0002t0001g0003 a0002c0002t0001g0013 others(4): Show a0001c0001t0004g0003 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027	60	400	0.1500	-112	c.-13 others(11): Show c.-1326_-1215del	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1304		chr17	TogoVar
SCML4_chr6_107697154_107829313	107782921	TGCTGCTC others(105): Show TGCTGCTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGAT GGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTG CCTGATGGGAGGA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01167.hp2 others(39): Show HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG02083.hp2 HG02132.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18951.hp2 NA18987.hp1 NA19043.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0014 a0002c0016 a0004c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0002t0001 a0001c0002t0009 a0001c0003t0012 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0006t0009 a0002c0007t0007 a0002c0014t0011 a0002c0016t0011 a0004c0015t0009	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0120 others(39): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0154 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0004g0023 a0001c0001t0004g0030 a0001c0001t0004g0070 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0013g0119 a0001c0001t0013g0121 a0001c0001t0013g0125 a0001c0001t0014g0126 a0001c0001t0014g0129 a0001c0001t0025g0122 a0001c0002t0001g0033 a0001c0002t0001g0088 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0009g0110 a0001c0003t0012g0108 a0002c0004t0001g0026 a0002c0004t0003g0020 a0002c0004t0003g0092 a0002c0004t0004g0019 a0002c0006t0009g0034 a0002c0006t0009g0035 a0002c0007t0007g0021 a0002c0007t0007g0022 a0002c0007t0007g0031 a0002c0007t0007g0032 a0002c0014t0011g0029 a0002c0016t0011g0018 a0004c0015t0009g0002	42	248	0.1694	-112	c.-59 others(19): Show c.-59-10647_-59-10536del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783257	TGCTGGTC others(105): Show TGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGAT GGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTG CCTGATGGGAGGA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0247 a0001c0002t0005g0247	1	248	0.0040	-112	c.-59 others(19): Show c.-59-10983_-59-10872del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783365	GAGGAGCT others(105): Show GAGGAGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCC TGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAG TTTGCCTGATGGC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01243.hp2 others(17): Show HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0002t0010 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0010 a0001c0003t0007 a0001c0003t0012 a0001c0003t0015 a0001c0008t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0004g0139 others(17): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0004g0139 a0001c0002t0010g0009 a0001c0002t0010g0065 a0001c0002t0010g0130 a0001c0002t0010g0149 a0001c0002t0010g0164 a0001c0003t0007g0075 a0001c0003t0007g0123 a0001c0003t0007g0128 a0001c0003t0012g0131 a0001c0003t0012g0133 a0001c0003t0012g0134 a0001c0003t0012g0136 a0001c0003t0012g0137 a0001c0003t0015g0161 a0001c0003t0015g0162 a0001c0003t0015g0163 a0001c0008t0001g0005	20	241	0.0830	-112	c.-59 others(19): Show c.-59-11091_-59-10980del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783477	CAGGTGCT others(105): Show CAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCC TGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGAGCTGGTCTGAG TTTGCCTGATGGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01258.hp1 HG01978.hp2 others(5): Show HG00621.hp1 HG01258.hp1 HG01978.hp2 HG03927.hp2 NA18949.hp1 NA18967.hp1 NA18971.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0024 a0001c0002t0001 a0001c0002t0009 a0002c0004t0009	a0001c0001t0001g0086 a0001c0001t0003g0084 a0001c0001t0004g0097 others(5): Show a0001c0001t0001g0086 a0001c0001t0003g0084 a0001c0001t0004g0097 a0001c0001t0010g0083 a0001c0001t0024g0106 a0001c0002t0001g0101 a0001c0002t0009g0090 a0002c0004t0009g0103	8	195	0.0410	-112	c.-59 others(19): Show c.-59-11203_-59-11092del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1288836	TGTCTCTG others(105): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTG TTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0252 a0003c0004t0003g0252	1	284	0.0035	-112	c.166 others(17): Show c.1662+857_1662+968del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288999	CCGTGTCT others(105): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	286	0.0035	-112	c.166 others(18): Show c.1662+964_1662+1075del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	CCCCGAGT others(105): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCCCCGT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	254	0.0039	-112	c.166 others(19): Show c.1662+1003_1662+1114del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	TCCCGTGT others(105): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	239	0.0042	-112	c.166 others(17): Show c.1663-634_1663-523del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3A_chr7_83950777_84199789	84086471	GTATTATT others(105): Show GTATTATTATATTATATTTACATATAATATATTATTATATTATATTTATA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01978.hp1 HG02155.hp1 others(4): Show HG01943.hp2 HG01978.hp1 HG02155.hp1 NA18965.hp2 NA18999.hp1 NA19066.hp2 NA19083.hp1	a0002 a0002	a0002c0006 a0002c0009 a0002c0006 a0002c0009	a0002c0006t0010 a0002c0009t0021 a0002c0006t0010 a0002c0009t0021	a0002c0006t0010g0004 a0002c0006t0010g0005 a0002c0006t0010g0056 others(4): Show a0002c0006t0010g0004 a0002c0006t0010g0005 a0002c0006t0010g0056 a0002c0006t0010g0183 a0002c0006t0010g0199 a0002c0009t0021g0265 a0002c0009t0021g0266	7	103	0.0680	-112	c.453 others(19): Show c.453+23887_453+23998del	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SGTA_chr19_2749715_2788273	2777268	ACCAGGCG others(105): Show ACCAGGCGCAGTGGCTCACACCTGTGATCCCAGCAGCACTTCGGGAGGCC AAAGCGGGGGGATCACTTGAGCATAGGAATTCAAGAGCAGCCTGGGCAAC ATAGGGAGACCCC	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0315 a0001c0003t0013g0315	1	394	0.0025	-112	c.-24 others(17): Show c.-24+5853_-24+5964del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SHC2_chr19_411589_466033	431540	CGGGCAGA others(105): Show CGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00735.hp2 others(18): Show HG00099.hp2 HG00323.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp1 HG01256.hp2 HG01891.hp1 HG02145.hp2 HG02451.hp1 HG02735.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA19064.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0005t0001 a0001c0005t0005 a0002c0004t0001 a0002c0004t0004 a0002c0004t0005	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0004g0002 others(17): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0004g0002 a0001c0001t0004g0031 a0001c0001t0005g0027 a0001c0001t0005g0037 a0001c0001t0005g0040 a0001c0001t0005g0046 a0001c0001t0005g0053 a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0020 a0001c0005t0001g0021 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0005g0019 a0002c0004t0001g0198 a0002c0004t0004g0203 a0002c0004t0005g0188 a0002c0004t0005g0204	21	207	0.1014	-112	c.111 others(17): Show c.1111-905_1111-794del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	431827	GGGCAGAT others(105): Show GGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAG AGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAG ATAGAGGAGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	201	0.0050	-112	c.111 others(19): Show c.1111-1192_1111-1081del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	443575	CGGGTGGG others(105): Show CGGGTGGGTGGATGAATGGATGGATGGACGGGTGAGTGGATGGGTGGGTG GATGGATGGACAGATGGATGGTTGGATGGGTGGACAGATGGGTGGATGAA TGGATGGATGGAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0055 a0001c0017t0005g0055	1	210	0.0048	-112	c.469 others(17): Show c.469-2755_469-2644del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	443636	AGATGGAT others(105): Show AGATGGATGGTTGGATGGGTGGACAGATGGGTGGATGAATGGATGGATGG ATGGGTGGGTGGATGAATGGATGGATGGACGGGTGAGTGGATGGGTGGGT GGATGGATGGACG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	210	0.0048	-112	c.469 others(17): Show c.469-2816_469-2705del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHOX_chrX_625791_656584	626005	TTCTCTCT others(105): Show TTCTCTCTCTCCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTA CCTCTGTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCT GTCTATCTCTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0129 a0001c0001t0091g0129	1	218	0.0046	-112	c.-48 others(11): Show c.-4892_-4781del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4785		chrX	TogoVar
SIPA1L2_chr1_232392965_232635133	232415751	CCCCTCCC others(105): Show CCCCTCCCAGAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTC AGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGAACA CGGGCACCACTGT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	290	0.0034	-112	c.463 others(17): Show c.4631-238_4631-127del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232415992	CAGTCAGA others(105): Show CAGTCAGAACACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGTCAGAAC ACGGGCACCACTGTCCCTCCCAGAGTCAGTCAGTCAGAACACGGGCACCA CTGTCCCTCCCAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01175.hp1 others(14): Show HG00735.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp2 HG03540.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0017 others(7): Show a0001c0001 a0001c0003 a0001c0017 a0001c0050 a0002c0006 a0002c0053 a0005c0009 a0005c0043 a0005c0058 a0005c0070	a0001c0001t0004 a0001c0001t0005 a0001c0003t0004 others(11): Show a0001c0001t0004 a0001c0001t0005 a0001c0003t0004 a0001c0017t0001 a0001c0017t0005 a0001c0050t0004 a0002c0006t0004 a0002c0006t0007 a0002c0006t0008 a0002c0053t0008 a0005c0009t0002 a0005c0043t0007 a0005c0058t0002 a0005c0070t0003	a0001c0001t0004g0210 a0001c0001t0005g0031 a0001c0003t0004g0102 others(14): Show a0001c0001t0004g0210 a0001c0001t0005g0031 a0001c0003t0004g0102 a0001c0003t0004g0135 a0001c0017t0001g0159 a0001c0017t0005g0073 a0001c0017t0005g0074 a0001c0050t0004g0213 a0002c0006t0004g0096 a0002c0006t0007g0004 a0002c0006t0008g0262 a0002c0053t0008g0272 a0005c0009t0002g0029 a0005c0009t0002g0040 a0005c0043t0007g0001 a0005c0058t0002g0039 a0005c0070t0003g0238	17	290	0.0586	-112	c.463 others(17): Show c.4631-479_4631-368del	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070578	CCCCCAGC others(105): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCAT CACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0023 a0001c0007t0006g0023	1	118	0.0085	-112	c.224 others(19): Show c.2241+2943_2241+3054del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071122	GAGCCCCC others(105): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	115	0.0087	-112	c.224 others(19): Show c.2241+2399_2241+2510del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071503	GAGCCCCC others(105): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0014	1	116	0.0086	-112	c.224 others(19): Show c.2241+2018_2241+2129del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071671	CCCCCAGC others(105): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCAT CACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	104	0.0096	-112	c.224 others(19): Show c.2241+1850_2241+1961del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071751	GAGCCCCC others(105): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02698.hp2 HG03516.hp1 others(1): Show HG00733.hp2 HG02698.hp2 HG03516.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0004 a0002c0011 others(1): Show a0001c0010 a0002c0004 a0002c0011 a0002c0034	a0001c0010t0005 a0002c0004t0022 a0002c0011t0002 others(1): Show a0001c0010t0005 a0002c0004t0022 a0002c0011t0002 a0002c0034t0002	a0001c0010t0005g0009 a0002c0004t0022g0087 a0002c0011t0002g0030 others(1): Show a0001c0010t0005g0009 a0002c0004t0022g0087 a0002c0011t0002g0030 a0002c0034t0002g0091	4	115	0.0348	-112	c.224 others(19): Show c.2241+1770_2241+1881del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A7_chr12_59591029_59794841	59671959	ATATGTGT others(105): Show ATATGTGTATATATCCATATATCCGTATATATATGTGTATATATCCATAT ATCCGTATATATGTGTATATATCGCATATATCCGTATATATGTGTATATA TCGCATATATCCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0076 a0002c0002t0003g0076	1	258	0.0039	-112	c.-31 others(19): Show c.-31+16713_-31+16824del	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC24A5_chr15_48115990_48147672	48123580	GCACCCAG others(105): Show GCACCCAGTAGAAATTTATCATAAAATTTAAAACTATTACTCTCATTGGA CATTTGGCCTGTTTTAAGTTTTTTGTGTTAATGTCATGCCCATAATTGTA TAAAATCTTTGCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	342	0.0029	-112	c.301 others(17): Show c.301+1549_301+1660del	SLC24A5	ENSG00000188467.11	transcript	ENST00000341459.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC39A14_chr8_22362278_22427736	22396427	AGAGAGAG others(105): Show AGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02300.hp2 HG02965.hp2 others(4): Show HG01069.hp1 HG02300.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03516.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0001 a0003c0008 a0001c0003 a0003c0001 a0003c0008	a0001c0003t0005 a0003c0001t0001 a0003c0001t0002 others(1): Show a0001c0003t0005 a0003c0001t0001 a0003c0001t0002 a0003c0008t0004	a0001c0003t0005g0008 a0001c0003t0005g0231 a0001c0003t0005g0234 others(4): Show a0001c0003t0005g0008 a0001c0003t0005g0231 a0001c0003t0005g0234 a0003c0001t0001g0004 a0003c0001t0001g0106 a0003c0001t0002g0129 a0003c0008t0004g0248	7	313	0.0224	-112	c.-15 others(17): Show c.-15-8247_-15-8136del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79920228	GAGGAGAG others(105): Show GAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18963.hp2 NA18979.hp1 others(5): Show HG04228.hp2 NA18963.hp2 NA18979.hp1 NA18982.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0004g0026 a0001c0001t0004g0176 a0001c0001t0005g0211 others(5): Show a0001c0001t0004g0026 a0001c0001t0004g0176 a0001c0001t0005g0211 a0001c0001t0006g0249 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0255 a0001c0001t0006g0256	8	334	0.0240	-112	c.392 others(15): Show c.392-940_392-829del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238260	AGCCTGGG others(105): Show AGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACT CAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0301 a0002c0001t0001g0301	1	350	0.0029	-112	c.732 others(15): Show c.732+244_732+355del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238487	TGGAGGAC others(105): Show TGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCAGGGGCCTCAGG AAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGT TTGGAGTGAGCCA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp1 HG02896.hp2 others(1): Show HG01891.hp2 HG02818.hp1 HG02896.hp2 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0045 a0001c0002 a0006c0045	a0001c0002t0002 a0006c0045t0004 a0001c0002t0002 a0006c0045t0004	a0001c0002t0002g0116 a0001c0002t0002g0157 a0001c0002t0002g0160 others(1): Show a0001c0002t0002g0116 a0001c0002t0002g0157 a0001c0002t0002g0160 a0006c0045t0004g0172	4	434	0.0092	-112	c.732 others(15): Show c.732+430_732+541del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238530	CCTCAGGA others(105): Show CCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGAGCCTGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02723.hp1 HG02738.hp1 others(4): Show HG02040.hp1 HG02723.hp1 HG02738.hp1 HG04228.hp1 NA18980.hp1 NA19005.hp1 NA19010.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0005 a0002c0028 a0003c0004 others(2): Show a0001c0005 a0002c0028 a0003c0004 a0006c0046 a0008c0015	a0001c0005t0002 a0002c0028t0001 a0003c0004t0001 others(2): Show a0001c0005t0002 a0002c0028t0001 a0003c0004t0001 a0006c0046t0004 a0008c0015t0004	a0001c0005t0002g0108 a0001c0005t0002g0326 a0002c0028t0001g0248 others(4): Show a0001c0005t0002g0108 a0001c0005t0002g0326 a0002c0028t0001g0248 a0003c0004t0001g0272 a0006c0046t0004g0212 a0008c0015t0004g0222 a0008c0015t0004g0232	7	445	0.0157	-112	c.732 others(15): Show c.732+498_732+609del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422795	CGGTGCTG others(105): Show CGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTG CCCACTGCTGCCCAGTGCTGCCCATGGTGCTGGGTGCCCACCGCTGCCCA CAGTGCTGCCCAT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18955.hp2 NA18948.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0179 a0001c0001t0009g0178 a0001c0001t0001g0179 a0001c0001t0009g0178	2	368	0.0054	-112	c.654 others(15): Show c.654-893_654-782del	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLCO4A1_chr20_62637503_62677293	62655253	TGGGGGCG others(105): Show TGGGGGCGGCACAGGTGTTCTGTATCACAGCAGCCCCGGGAAGGACCCTC CCAGGGTGGGGGCGGCACAGGTGTTCTGTATCACAGCAGCCCCGGGAAGG ACCCTCCCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 NA18747.hp1 others(9): Show HG00544.hp2 HG00621.hp2 NA18747.hp1 NA18952.hp1 NA18972.hp1 NA18979.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19063.hp1 NA19065.hp1 NA19068.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0031 a0001c0001 a0008c0031	a0001c0001t0002 a0001c0001t0003 a0008c0031t0002 a0001c0001t0002 a0001c0001t0003 a0008c0031t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0100 others(8): Show a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0100 a0001c0001t0002g0153 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0008c0031t0002g0020	12	425	0.0282	-112	c.-96 others(16): Show c.-96-1086_-96-975del	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX9_chr21_44935029_44981973	44981861	CGGGGCCT others(105): Show CGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGG GGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGT TCACGGGGGACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA18906.hp1 NA18989.hp2 HG01109.hp1 NA18906.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0143 a0001c0001t0001g0199 a0001c0001t0001g0016 a0001c0001t0001g0143 a0001c0001t0001g0199	3	331	0.0091	-112	c.50 others(11): Show c.5059_*5170del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4889		chr21	TogoVar
SMOC2_chr6_168436184_168672992	168614374	GGCCTCTT others(105): Show GGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCA GCACAGGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACC TACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0126 a0001c0005t0001g0126	1	131	0.0076	-112	c.907 others(17): Show c.907+6137_907+6248del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1343615	CCCCTGTT others(105): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG03453.hp1 others(1): Show HG02486.hp1 HG02615.hp1 HG03453.hp1 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0002 a0003c0007t0001 a0003c0007t0002	a0003c0007t0001g0007 a0003c0007t0001g0104 a0003c0007t0002g0075 others(1): Show a0003c0007t0001g0007 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077	4	185	0.0216	-112	c.148 others(21): Show c.1489-23724_1489-23613del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343728	CCCCTGTT others(105): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20129.hp1 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0141 a0001c0002t0002g0002 a0001c0002t0001g0141 a0001c0002t0002g0002	2	186	0.0108	-112	c.148 others(21): Show c.1489-23611_1489-23500del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344294	CCCCTGTT others(105): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGTGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp2 HG02451.hp1 HG02895.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0017 a0001c0002 a0007c0017	a0001c0002t0002 a0007c0017t0001 a0001c0002t0002 a0007c0017t0001	a0001c0002t0002g0076 a0007c0017t0001g0106 a0001c0002t0002g0076 a0007c0017t0001g0106	2	187	0.0107	-112	c.148 others(21): Show c.1489-23045_1489-22934del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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