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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MICAL3_chr22_17782649_18029561	17877367	TAGGGAGG others(65): Show TAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGATTATGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0006 a0007c0013t0006	a0007c0013t0006g0249 a0007c0013t0006g0249	1	274	0.0037	-72	c.224 others(91): Show c.2242-5416_2242-5345delCACCTCCATAATCTCCCTAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MLLT3_chr9_20336669_20627499	20565928	ATATATAT others(65): Show ATATATATATTTATATATATATATATTTATATATATATATTTATATATAT ATATATTTATTTATATATTTATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG01884.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0054 a0001c0001t0012 a0001c0001t0054	a0001c0001t0012g0172 a0001c0001t0054g0021 a0001c0001t0012g0172 a0001c0001t0054g0021	2	186	0.0108	-72	c.193 others(91): Show c.193+54654_193+54725delAATAAATATATAAATAAATATATATA TATATAAATATATATATATAAATATATATATATATAAATATATATA		MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding	2/10						chr9	TogoVar
MLPH_chr2_237482251_237560322	237544549	ACACTTTA others(65): Show ACACTTTAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGT GGTTGTCAGTGTGTGGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp2 HG03471.hp2 others(4): Show HG02630.hp2 HG02976.hp2 HG03471.hp2 HG03516.hp2 NA18948.hp2 NA19079.hp2 NA21309.hp2	a0003 a0004 a0022 a0003 a0004 a0022	a0003c0003 a0004c0005 a0022c0027 a0003c0003 a0004c0005 a0022c0027	a0003c0003t0002 a0003c0003t0003 a0004c0005t0001 others(1): Show a0003c0003t0002 a0003c0003t0003 a0004c0005t0001 a0022c0027t0001	a0003c0003t0002g0238 a0003c0003t0002g0240 a0003c0003t0002g0262 others(4): Show a0003c0003t0002g0238 a0003c0003t0002g0240 a0003c0003t0002g0262 a0003c0003t0003g0125 a0003c0003t0003g0134 a0004c0005t0001g0188 a0022c0027t0001g0175	7	286	0.0245	-72	c.153 others(91): Show c.1539+1893_1539+1964delCTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCA		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589025	ATATAAAT others(65): Show ATATAAATATAAAATACATTTATATTATAAATATAAAATACATTTATATT ATAAATATAAAATACATTTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	276	0.0036	-72	c.47 others(83): Show c.4768_*4839delATATAAATGTATTTTATATTTATAATATAAATGT ATTTTATATTTATAATATAAATGTATTTTATATTTATA		MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding					4176		chr7	TogoVar
MOV10L1_chr22_50085006_50166687	50166049	GCAATCCC others(65): Show GCAATCCCAGCGTGGCCCACGTCTCCAATCCCAGCGTGGCTCAAGCCTGC AATCCCAGCGTGGCCCACGTCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0001 a0016c0029t0001	a0016c0029t0001g0206 a0016c0029t0001g0206	1	400	0.0025	-72	c.46 others(83): Show c.4601_*4672delCAATCCCAGCGTGGCCCACGTCTCCAATCCCAGC GTGGCTCAAGCCTGCAATCCCAGCGTGGCCCACGTCTC		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding					4363		chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50166260	CATCTCCA others(65): Show CATCTCCAATCCCAGCGTGGCCCACGTCTCCGATCCCAGCGTGGCTCAAG CCTGCAATCCCAGCGTGGCTCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01109.hp1 others(1): Show HG00639.hp2 HG01081.hp1 HG01109.hp1 NA20905.hp2	a0004 a0005 a0004 a0005	a0004c0008 a0005c0004 a0004c0008 a0005c0004	a0004c0008t0001 a0005c0004t0001 a0004c0008t0001 a0005c0004t0001	a0004c0008t0001g0112 a0004c0008t0001g0122 a0004c0008t0001g0123 others(1): Show a0004c0008t0001g0112 a0004c0008t0001g0122 a0004c0008t0001g0123 a0005c0004t0001g0124	4	400	0.0100	-72	c.48 others(83): Show c.4812_*4883delATCTCCAATCCCAGCGTGGCCCACGTCTCCGATC CCAGCGTGGCTCAAGCCTGCAATCCCAGCGTGGCTCAA		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding					4574		chr22	TogoVar
MPP7_chr10_28045993_28308064	28262187	ATATATAT others(65): Show ATATATATATATATATATATACATATATATATATATATACATATATATAT ATATATACATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0155 a0001c0002t0005g0155	1	300	0.0033	-72	c.-13 others(93): Show c.-131-23524_-131-23453delCATATATATATATATGTATATATA TATATATATGTATATATATATATATATGTATATATATATATATATATA		MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	1/16						chr10	TogoVar
MRI1_chr19_13759522_13779282	13764324	GTCCTGGG others(65): Show GTCCTGGGAACCCGTGGAATCCGCCTCCTGGGAACCCGTGGAATCCGCCT CCTGGGAACCCGTGGAATCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0011 a0003c0014t0011	a0003c0014t0011g0240 a0003c0014t0011g0240	1	460	0.0022	-72	c.-26 others(81): Show c.-264_-193delTCCTGGGAACCCGTGGAATCCGCCTCCTGGGAACCC GTGGAATCCGCCTCCTGGGAACCCGTGGAATCCGCC		MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding					197		chr19	TogoVar
MRPS9_chr2_105033069_105104960	105054579	ACCCCTTT others(65): Show ACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT CGCATTTTATTAAATATAGCGGG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18969.hp1 NA18979.hp1 HG02165.hp1 NA18969.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126	3	394	0.0076	-72	c.315 others(89): Show c.315+6143_315+6214delCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055493	CGCATTTT others(65): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG02280.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0225 a0001c0001t0001g0229	2	394	0.0051	-72	c.315 others(89): Show c.315+6165_315+6236delGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGG		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	CGCATTTT others(65): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAA TATAGCGGACCCCTTTTGGTATT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	394	0.0025	-72	c.315 others(89): Show c.315+6201_315+6272delGCCCCTTTTGGTATTGCATTTTATTAAA TATAGCGGACCCCTTTTGGTATTGCATTTTATTAAATATAGCGG		MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH3_chr5_80649652_80881815	80691948	TATAGATA others(65): Show TATAGATAAACATGTATATGTTTATATAGATAAACATGTATATGTTTAGA TAGATAAACATGTATATGTTTAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01981.hp2 others(21): Show HG00323.hp1 HG00558.hp1 HG01981.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG03017.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18995.hp2 NA19079.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0010 a0001c0001 a0002c0003 a0008c0010	a0001c0001t0005 a0002c0003t0003 a0002c0003t0012 others(2): Show a0001c0001t0005 a0002c0003t0003 a0002c0003t0012 a0002c0003t0014 a0008c0010t0009	a0001c0001t0005g0026 a0001c0001t0005g0027 a0002c0003t0003g0185 others(21): Show a0001c0001t0005g0026 a0001c0001t0005g0027 a0002c0003t0003g0185 a0002c0003t0003g0186 a0002c0003t0003g0187 a0002c0003t0003g0188 a0002c0003t0003g0189 a0002c0003t0003g0190 a0002c0003t0003g0191 a0002c0003t0003g0192 a0002c0003t0003g0196 a0002c0003t0003g0197 a0002c0003t0003g0201 a0002c0003t0003g0202 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0214 a0002c0003t0003g0215 a0002c0003t0003g0217 a0002c0003t0012g0194 a0002c0003t0012g0203 a0002c0003t0014g0206 a0002c0003t0014g0220 a0008c0010t0009g0216	24	362	0.0663	-72	c.134 others(93): Show c.1340+12867_1340+12938delTGTATATGTTTATATAGATAAACA TGTATATGTTTAGATAGATAAACATGTATATGTTTAGATAGATAAACA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MT4_chr16_56560073_56573957	56568207	GAGAGAGA others(65): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	428	0.0023	-72	c.97+ others(85): Show c.97+395_97+466delGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGA		MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MTDH_chr8_97639184_97735260	97677148	ACTCCAGC others(65): Show ACTCCAGCCTGGGCAACAGTAAAAGCCTGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00558.hp2 others(88): Show HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp2 NA18941.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18982.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19090.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0006c0009 a0007c0011	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(30): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0065 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0076 a0001c0001t0079 a0001c0001t0083 a0001c0001t0086 a0001c0002t0003 a0001c0002t0007 a0001c0002t0021 a0001c0002t0030 a0001c0002t0074 a0001c0002t0075 a0001c0002t0077 a0001c0002t0078 a0001c0002t0080 a0001c0002t0081 a0001c0002t0082 a0001c0002t0089 a0001c0002t0090 a0001c0007t0003 a0006c0009t0003 a0007c0011t0070	a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 others(88): Show a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0255 a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0008g0157 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0008g0163 a0001c0001t0011g0141 a0001c0001t0011g0143 a0001c0001t0011g0144 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0148 a0001c0001t0021g0168 a0001c0001t0023g0158 a0001c0001t0023g0164 a0001c0001t0023g0165 a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0030g0169 a0001c0001t0031g0177 a0001c0001t0031g0178 a0001c0001t0065g0167 a0001c0001t0071g0145 a0001c0001t0072g0142 a0001c0001t0073g0149 a0001c0001t0076g0174 a0001c0001t0079g0152 a0001c0001t0083g0370 a0001c0001t0086g0166 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0216 a0001c0002t0003g0220 a0001c0002t0003g0222 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0241 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0007g0198 a0001c0002t0007g0199 a0001c0002t0007g0200 a0001c0002t0007g0217 a0001c0002t0007g0219 a0001c0002t0007g0232 a0001c0002t0021g0240 a0001c0002t0021g0243 a0001c0002t0030g0218 a0001c0002t0074g0211 a0001c0002t0075g0196 a0001c0002t0077g0221 a0001c0002t0078g0215 a0001c0002t0080g0205 a0001c0002t0081g0242 a0001c0002t0082g0223 a0001c0002t0089g0197 a0001c0002t0090g0224 a0001c0007t0003g0153 a0001c0007t0003g0154 a0006c0009t0003g0233 a0007c0011t0070g0016	91	370	0.2460	-72	c.484 others(89): Show c.484-9518_484-9447delTCCAGCCTGGGCAACAGTAAAAGCCTGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGC		MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTFR1_chr8_65639734_65715562	65662038	TCTCCCTC others(65): Show TCTCCCTCTCTCTCTCCCTCTCTCTCTCCCTCTCTTTCCACAGTCTCCCT CTCCCTCTCTTTCCACAGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(30): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp2 HG02040.hp2 HG02109.hp2 HG02280.hp1 HG02602.hp2 HG02698.hp2 HG03834.hp2 HG04184.hp2 NA18942.hp2 NA18989.hp2 NA18997.hp1 NA19009.hp1 NA19065.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0039 a0001c0001t0002g0042 others(29): Show a0001c0001t0002g0001 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0103 a0002c0002t0002g0017	33	348	0.0948	-72	c.-80 others(89): Show c.-80-7831_-80-7760delCCTCTCTCTCTCCCTCTCTCTCTCCCTC TCTTTCCACAGTCTCCCTCTCCCTCTCTTTCCACAGTCTCCCTC		MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTUS2_chr13_28815339_29510947	29028067	GCAGGAGC others(65): Show GCAGGAGCCAAGGACAGCGGCTCACACCTGTAATCCCAGCATTTGGGAAG CCGAGATGGGCAGATCACAAGGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02615.hp1 others(6): Show HG01891.hp2 HG02258.hp1 HG02615.hp1 HG02809.hp2 HG03041.hp1 HG03130.hp1 HG03516.hp1 NA19043.hp1 NA19240.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0003c0009 a0007c0004 a0003c0003 a0003c0009 a0007c0004	a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 others(5): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0008 a0003c0009t0020 a0007c0004t0001 a0007c0004t0002 a0007c0004t0006	a0003c0003t0001g0037 a0003c0003t0001g0075 a0003c0003t0003g0009 others(6): Show a0003c0003t0001g0037 a0003c0003t0001g0075 a0003c0003t0003g0009 a0003c0003t0004g0061 a0003c0003t0008g0069 a0003c0009t0020g0052 a0007c0004t0001g0088 a0007c0004t0002g0013 a0007c0004t0006g0042	9	92	0.0978	-72	c.220 others(91): Show c.2205+1171_2205+1242delCCAAGGACAGCGGCTCACACCTGTAA TCCCAGCATTTGGGAAGCCGAGATGGGCAGATCACAAGGTCAGGAG		MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC5AC_chr11_1152953_1206138	1191750	CAGCACAA others(65): Show CAGCACAACCTCTGGTCCTGGAACTTCTCTCAGCCCTGTTCCCACCACGA GCACAACCTCTGCTCCTACAACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp1	a0068 a0068	a0068c0103 a0068c0103	a0068c0103t0001 a0068c0103t0001	a0068c0103t0001g0225 a0068c0103t0001g0225	1	292	0.0034	-72	c.136 others(83): Show c.13630_13701delTCTCTCAGCCCTGTTCCCACCACGAGCACAACCT CTGCTCCTACAACTAGCACAACCTCTGGTCCTGGAACT	p.Ser others(15): Show p.Ser4544_Thr4567del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	13677/17448	13630/16965	4544/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYADM_chr19_53862883_53881435	53870043	GGGGGTCT others(65): Show GGGGGTCTGGACTCCGGGGTCCGAGGGAGGAGGGGCTGGGGTCTGGACTC CTGGGTCCGAGGAAGGAGGGGCT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02280.hp1 others(8): Show HG01243.hp1 HG01891.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG03098.hp2 HG03471.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0006 a0001c0001t0065 a0001c0001t0066 others(1): Show a0001c0001t0006 a0001c0001t0065 a0001c0001t0066 a0001c0008t0068	a0001c0001t0006g0008 a0001c0001t0006g0060 a0001c0001t0065g0008 others(2): Show a0001c0001t0006g0008 a0001c0001t0006g0060 a0001c0001t0065g0008 a0001c0001t0066g0008 a0001c0008t0068g0062	11	378	0.0291	-72	c.-3+ others(85): Show c.-3+220_-3+291delGGGGTCCGAGGGAGGAGGGGCTGGGGTCTGGA CTCCTGGGTCCGAGGAAGGAGGGGCTGGGGTCTGGACTCC		MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
MYL10_chr7_101608330_101634296	101609672	TCTTCCTC others(65): Show TCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTTCCTCCCTCCCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	398	0.0025	-72	c.37 others(83): Show c.3731_*3802delGCAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGG AGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAG		MYL10	ENSG00000106436.8	transcript	ENST00000223167.5	protein_coding					3657		chr7	TogoVar
MYOM2_chr8_2040046_2150456	2055063	GAAGTACC others(65): Show GAAGTACCTGGATACTGGGGGAACGAAGTACCTGGATACTGGGGTAACCA AGTACCTGGATACTGGGGTAACC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01433.hp2 HG01891.hp1 others(41): Show HG00438.hp2 HG01433.hp2 HG01891.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02622.hp1 HG02683.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18983.hp2 NA18987.hp2 NA19054.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA20129.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0015 a0019 a0021 a0024 a0036 a0038 a0041 a0042 a0045 a0046 a0047 a0049 a0054 a0079	a0001c0038 a0002c0006 a0002c0035 others(30): Show a0001c0038 a0002c0006 a0002c0035 a0002c0041 a0002c0070 a0002c0121 a0003c0004 a0005c0101 a0006c0013 a0006c0191 a0006c0198 a0006c0204 a0006c0205 a0007c0047 a0010c0056 a0010c0206 a0010c0207 a0015c0057 a0015c0209 a0019c0058 a0019c0211 a0021c0028 a0024c0055 a0036c0036 a0038c0132 a0041c0210 a0042c0192 a0045c0208 a0046c0200 a0047c0202 a0049c0203 a0054c0179 a0079c0136	a0001c0038t0001 a0002c0006t0001 a0002c0035t0001 others(31): Show a0001c0038t0001 a0002c0006t0001 a0002c0035t0001 a0002c0041t0001 a0002c0070t0001 a0002c0121t0006 a0003c0004t0002 a0005c0101t0007 a0006c0013t0001 a0006c0191t0001 a0006c0198t0001 a0006c0204t0002 a0006c0205t0001 a0007c0047t0001 a0010c0056t0002 a0010c0206t0001 a0010c0207t0001 a0015c0057t0001 a0015c0209t0004 a0019c0058t0001 a0019c0058t0002 a0019c0211t0002 a0021c0028t0001 a0024c0055t0001 a0036c0036t0001 a0038c0132t0001 a0041c0210t0001 a0042c0192t0002 a0045c0208t0001 a0046c0200t0001 a0047c0202t0001 a0049c0203t0001 a0054c0179t0001 a0079c0136t0001	a0001c0038t0001g0076 a0001c0038t0001g0077 a0002c0006t0001g0078 others(41): Show a0001c0038t0001g0076 a0001c0038t0001g0077 a0002c0006t0001g0078 a0002c0006t0001g0085 a0002c0035t0001g0080 a0002c0035t0001g0081 a0002c0041t0001g0084 a0002c0070t0001g0176 a0002c0121t0006g0075 a0003c0004t0002g0147 a0005c0101t0007g0079 a0006c0013t0001g0152 a0006c0013t0001g0155 a0006c0013t0001g0158 a0006c0191t0001g0169 a0006c0198t0001g0163 a0006c0204t0002g0160 a0006c0205t0001g0187 a0007c0047t0001g0183 a0010c0056t0002g0159 a0010c0206t0001g0154 a0010c0207t0001g0150 a0015c0057t0001g0156 a0015c0057t0001g0165 a0015c0209t0004g0161 a0019c0058t0001g0157 a0019c0058t0002g0185 a0019c0211t0002g0087 a0021c0028t0001g0164 a0021c0028t0001g0172 a0021c0028t0001g0186 a0024c0055t0001g0144 a0024c0055t0001g0170 a0036c0036t0001g0133 a0036c0036t0001g0342 a0038c0132t0001g0074 a0041c0210t0001g0153 a0042c0192t0002g0148 a0045c0208t0001g0162 a0046c0200t0001g0151 a0047c0202t0001g0166 a0049c0203t0001g0149 a0054c0179t0001g0082 a0079c0136t0001g0171	44	403	0.1092	-72	c.264 others(89): Show c.264-2261_264-2190delGAAGTACCTGGATACTGGGGTAACCAAG TACCTGGATACTGGGGTAACCAAGTACCTGGATACTGGGGGAAC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	3/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64212162	AGTGGGGG others(65): Show AGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGGCCAGGGTGGGGGCCGTGG TGGGGGCCAGGGTGGGGGCCGTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01346.hp2 HG01361.hp2 others(16): Show HG01074.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG02040.hp2 HG02280.hp2 HG02717.hp2 HG02809.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0001c0003t0007 a0001c0006t0015 a0001c0015t0002	a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0003g0072 others(16): Show a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0003g0072 a0001c0001t0003g0116 a0001c0001t0003g0164 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0008g0133 a0001c0001t0013g0022 a0001c0001t0014g0017 a0001c0001t0014g0092 a0001c0002t0002g0047 a0001c0002t0002g0079 a0001c0002t0002g0140 a0001c0002t0002g0146 a0001c0003t0007g0084 a0001c0006t0015g0110 a0001c0015t0002g0096	19	223	0.0852	-72	c.151 others(88): Show c.1517+56_1517+127delCCAGGGTGGGGGCCGTGGTGGGGGCCAGG GTGGGGGCCGTGGTGGGGGCCAGGGTGGGGGCCGTGGTGGGGG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	9/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64235882	ATGGTGGG others(65): Show ATGGTGGGTGACCCTGGGATGGCCGCGGTGGGTGACCCTGGGCTGGCCGC GGTGGGTGACCCTGGGCTGGACG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp1 HG02818.hp2 HG01496.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0071	3	223	0.0135	-72	c.289 others(89): Show c.2898-603_2898-532delACGTGGTGGGTGACCCTGGGATGGCCGC GGTGGGTGACCCTGGGCTGGCCGCGGTGGGTGACCCTGGGCTGG		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57688083	ATGTGTGT others(65): Show ATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATAT ATGTGTGTACAATATACACATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG03516.hp2 HG02257.hp2 HG02723.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0236 a0001c0003t0001g0114 a0001c0003t0003g0144 a0001c0001t0001g0236 a0001c0003t0001g0114 a0001c0003t0003g0144	3	352	0.0085	-72	c.35 others(83): Show c.3586_*3657delTGTGTGTACAATATACACATATATATGTGTGTAC AATATACACATATATATGTGTGTACAATATACACATAT		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2720		chr15	TogoVar
NADSYN1_chr11_71448203_71506816	71474711	GGGGGTCC others(65): Show GGGGGTCCCGCCTGCTCCTGGCTCTCCCCTGTAAGCCGGGTGCTTAGTGA GGGCCCCTGTGGAGAAGCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp2 HG02572.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0043 a0002c0002t0001g0044	2	354	0.0057	-72	c.798 others(87): Show c.798+202_798+273delCTGGCTCTCCCCTGTAAGCCGGGTGCTTAG TGAGGGCCCCTGTGGAGAAGCCCCCAGGGGTCCCGCCTGCTC		NADSYN1	ENSG00000172890.13	transcript	ENST00000319023.7	protein_coding	9/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19835721	ATACATAA others(65): Show ATACATAAAATTTTCTACATAAAATTTTATATATATCTACATAAAATTTT CTACATAAAATTTTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0124 a0002c0124	a0002c0124t0003 a0002c0124t0003	a0002c0124t0003g0091 a0002c0124t0003g0091	1	166	0.0060	-72	c.385 others(89): Show c.385+3135_385+3206delTACATAAAATTTTATATATATCTACATA AAATTTTCTACATAAAATTTTATATATATCTACATAAAATTTTC		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr11	TogoVar
NBAS_chr2_15161916_15566334	15287767	ATGTAGGC others(65): Show ATGTAGGCATCCCCGCATAAACATCCTGAGCACCCCGTGTAGGCATCCCC GCATAAACATCCTGAGCACCCCG	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	224	0.0045	-72	c.502 others(89): Show c.5028-656_5028-585delCGGGGTGCTCAGGATGTTTATGCGGGGA TGCCTACACGGGGTGCTCAGGATGTTTATGCGGGGATGCCTACA		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	41/51						chr2	TogoVar
NCBP2L_chrX_107772733_107800829	107782254	TATATATA others(65): Show TATATATAAATATATATATATAAATATATATAAATATATATATATAAATA TATATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0240 a0001c0002t0004g0240	1	303	0.0033	-72	c.-73 others(89): Show c.-73+4404_-73+4475delAATATATATATATAAATATATATAAATA TATATATATAAATATATATATAAATATATATATATAAATATATA		NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
NCR1_chr19_54901148_54918073	54917018	CATGCAGT others(65): Show CATGCAGTGACCCTTTTCAGCCCTTCTCATTATTGCTCCCCCACAGTTGT ATTTGACACGTTGACCACTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	457	0.0022	-72	c.41 others(83): Show c.4148_*4219delATGCAGTGACCCTTTTCAGCCCTTCTCATTATTG CTCCCCCACAGTTGTATTTGACACGTTGACCACTTCCT		NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding					3946		chr19	TogoVar
NDUFA10_chr2_239952372_240030342	239960107	TTGGACAC others(65): Show TTGGACACAGTGGAGCTTTACAGTGGAAAACCCACAGTTCAGTAGGACTC ACAACTGGCAGCCTGATTCCTAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG02148.hp2 others(9): Show HG00438.hp1 HG01891.hp1 HG02148.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03516.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0015 a0001c0001t0022 a0001c0001t0036 others(4): Show a0001c0001t0015 a0001c0001t0022 a0001c0001t0036 a0001c0001t0037 a0001c0001t0048 a0001c0003t0038 a0002c0004t0056	a0001c0001t0015g0027 a0001c0001t0015g0240 a0001c0001t0015g0241 others(8): Show a0001c0001t0015g0027 a0001c0001t0015g0240 a0001c0001t0015g0241 a0001c0001t0015g0242 a0001c0001t0022g0238 a0001c0001t0022g0239 a0001c0001t0036g0248 a0001c0001t0037g0237 a0001c0001t0048g0175 a0001c0003t0038g0089 a0002c0004t0056g0346	12	412	0.0291	-72	c.93 others(82): Show c.939_*1010delTTAGGAATCAGGCTGCCAGTTGTGAGTCCTACTGA ACTGTGGGTTTTCCACTGTAAAGCTCCACTGTGTCCA		NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	10/10				939		chr2	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(65): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01257.hp2 others(8): Show HG01109.hp2 HG01168.hp1 HG01257.hp2 HG02109.hp2 HG02300.hp2 HG02615.hp2 HG02622.hp2 HG02738.hp2 HG03130.hp2 NA20129.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0004 a0001c0001 a0001c0008 a0006c0004	a0001c0001t0001 a0001c0008t0001 a0006c0004t0001 a0001c0001t0001 a0001c0008t0001 a0006c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0135 a0001c0001t0001g0136 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0198 a0001c0008t0001g0068 a0006c0004t0001g0064	11	268	0.0410	-72	c.-89 others(81): Show c.-899_-828delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					711		chr1	TogoVar
NFATC1_chr18_79390930_79534323	79521410	TGGGGGGC others(65): Show TGGGGGGCATCCACTGATGTGTGTGTCTGTGTGTGTGTGGGGAGCATCCA CTGATGTGTATGTGTGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01256.hp2 HG01257.hp1 others(10): Show HG00733.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01517.hp2 HG01975.hp2 HG02148.hp2 HG02155.hp2 HG02300.hp2 HG02486.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0015 a0001c0027 others(3): Show a0001c0001 a0001c0015 a0001c0027 a0002c0002 a0002c0047 a0003c0007	a0001c0001t0021 a0001c0015t0021 a0001c0027t0008 others(4): Show a0001c0001t0021 a0001c0015t0021 a0001c0027t0008 a0002c0002t0001 a0002c0047t0022 a0003c0007t0008 a0003c0007t0024	a0001c0001t0021g0204 a0001c0015t0021g0238 a0001c0027t0008g0013 others(10): Show a0001c0001t0021g0204 a0001c0015t0021g0238 a0001c0027t0008g0013 a0001c0027t0008g0030 a0002c0002t0001g0220 a0002c0047t0022g0229 a0003c0007t0008g0017 a0003c0007t0008g0019 a0003c0007t0008g0020 a0003c0007t0008g0029 a0003c0007t0008g0031 a0003c0007t0008g0032 a0003c0007t0024g0146	13	322	0.0404	-72	c.278 others(91): Show c.2783-6113_2783-6042delGGCATCCACTGATGTGTGTGTCTGTG TGTGTGTGGGGAGCATCCACTGATGTGTATGTGTGTGTGTGGGGGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NGB_chr14_77260483_77276206	77269725	TCTTCTCT others(65): Show TCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCCCTCTCCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00642.hp2 others(13): Show HG00544.hp2 HG00621.hp2 HG00642.hp2 HG02602.hp1 HG02717.hp1 HG02895.hp2 HG02970.hp2 HG03579.hp2 HG03834.hp1 NA18970.hp2 NA18986.hp2 NA18998.hp2 NA19063.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0072 a0001c0001t0002g0244 a0001c0001t0002g0245	16	366	0.0437	-72	c.90- others(85): Show c.90-471_90-400delGGGAGAGGGAGAGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NHLRC4_chr16_562005_574495	571108	TCTGGCTA others(65): Show TCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CACCCGTGGCTAGCCTGGCGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01981.hp1 HG02630.hp1 others(2): Show HG01168.hp2 HG01981.hp1 HG02630.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0004g0001	5	424	0.0118	-72	c.26 others(83): Show c.2690_*2761delCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCGTGGCTAGCCTGGCGCCC		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1614		chr16	TogoVar
NOP14_chr4_2932936_2968406	2960911	ATATTATA others(65): Show ATATTATATCGATATTATTTTAATATTATATCAATATTATTATATTAATA TTATATCAATATTATATTAATAT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	422	0.0024	-72	c.195 others(89): Show c.195+2142_195+2213delATATTAATATAATATTGATATAATATTA ATATAATAATATTGATATAATATTAAAATAATATCGATATAATA		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
NOP14_chr4_2932936_2968406	2960958	ATATTATA others(65): Show ATATTATATCAATATTATATTAATATTATATCGATATTATTTTAATATTA TATCAATATTATTATATTAATAT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	422	0.0024	-72	c.195 others(89): Show c.195+2095_195+2166delATATTAATATAATAATATTGATATAATA TTAAAATAATATCGATATAATATTAATATAATATTGATATAATA		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
NOP14_chr4_2932936_2968406	2960967	CAATATTA others(65): Show CAATATTATATTAATATTATATCGATATTATTTTAATATTATATCAATAT TATTATATTAATATTATATCAAT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0002 a0018c0023t0002	a0018c0023t0002g0215 a0018c0023t0002g0215	1	422	0.0024	-72	c.195 others(89): Show c.195+2086_195+2157delATTGATATAATATTAATATAATAATATT GATATAATATTAAAATAATATCGATATAATATTAATATAATATT		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
NPDC1_chr9_137034463_137051177	137044928	CAGAACCA others(65): Show CAGAACCAGGCTGCCCAGGACAGCGCCTCAGCTGTGCCACAATCCACTTA ACTTCTCCATGCCTCGGATTCCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	402	0.0025	-72	c.112 others(87): Show c.112+878_112+949delAGGAATCCGAGGCATGGAGAAGTTAAGTGG ATTGTGGCACAGCTGAGGCGCTGTCCTGGGCAGCCTGGTTCT		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding	1/8						chr9	TogoVar
NPHP4_chr1_5857811_5997425	5922692	TCTGCAGT others(65): Show TCTGCAGTCCTGGCTTAGCCGGGCACGGTGGCACTGCCTGCAGTCCTGGC TTAGCCGGGCACGGTGGCACTGC	T T	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	208	0.0048	-72	c.144 others(91): Show c.1441+4885_1441+4956delGCAGTGCCACCGTGCCCGGCTAAGCC AGGACTGCAGGCAGTGCCACCGTGCCCGGCTAAGCCAGGACTGCAG		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	11/29						chr1	TogoVar
NRXN3_chr14_78165373_79873291	79845670	CGGAGACG others(65): Show CGGAGACGGGGAGAGAGACGGAGACGGGGAGAGAGACGGAGACGGGGAGA GAGAGGGAGACGGGGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02922.hp1 NA19043.hp2 HG01081.hp1 HG02922.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0014 a0001c0004t0005 a0002c0005t0005 a0001c0001t0014 a0001c0004t0005 a0002c0005t0005	a0001c0001t0014g0004 a0001c0004t0005g0003 a0002c0005t0005g0002 a0001c0001t0014g0004 a0001c0004t0005g0003 a0002c0005t0005g0002	3	24	0.1250	-72	c.409 others(93): Show c.4094-15654_4094-15583delCGGAGACGGGGAGAGAGACGGAGA CGGGGAGAGAGAGGGAGACGGGGAGAGAGAGGGAGACGGGGAGAGAGA		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79845688	CGGAGACG others(65): Show CGGAGACGGGGAGAGAGACGGAGACGGGGAGAGAGAGGGAGACGGGGAGA GAGAGGGAGACGGGGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19240.hp1 HG01109.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0017 a0002c0005t0016 a0001c0006t0017 a0002c0005t0016	a0001c0006t0017g0001 a0002c0005t0016g0022 a0001c0006t0017g0001 a0002c0005t0016g0022	2	24	0.0833	-72	c.409 others(93): Show c.4094-15636_4094-15565delCGGAGACGGGGAGAGAGAGGGAGA CGGGGAGAGAGAGGGAGACGGGGAGAGAGAGGGAGACGGGGAGAGAGA		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NTM_chr11_131365615_132341822	132199654	CTCCTGCT others(65): Show CTCCTGCTGGGAACTGGTGAGCGAGAAAGAAGAGTTATTGTCAAATTCCC AACTTGCCCTTTTTGATATAAAG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	86	0.0116	-72	c.401 others(91): Show c.401-12366_401-12295delCCTGCTGGGAACTGGTGAGCGAGAAA GAAGAGTTATTGTCAAATTCCCAACTTGCCCTTTTTGATATAAAGT		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN5_chr19_48656407_48678017	48669441	CCACCATC others(65): Show CCACCATCACCACCATGACCACCATCATCACCACCATCACCACCATCACC ATCACCACCACCACGACCATCAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	412	0.0024	-72	c.631 others(87): Show c.631+843_631+914delATGATGGTCGTGGTGGTGGTGATGGTGATG GTGGTGATGGTGGTGATGATGGTGGTCATGGTGGTGATGGTG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NTN5_chr19_48656407_48678017	48669447	TCACCACC others(65): Show TCACCACCATGACCACCATCATCACCACCATCACCACCATCACCATCACC ACCACCACGACCATCATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	412	0.0024	-72	c.631 others(87): Show c.631+837_631+908delGTGGTGATGATGGTCGTGGTGGTGGTGATG GTGATGGTGGTGATGGTGGTGATGATGGTGGTCATGGTGGTG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NUP210L_chr1_153987690_154160073	154125620	TGAAAGGA others(65): Show TGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	290	0.0035	-72	c.132 others(89): Show c.1326+631_1326+702delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39						chr1	TogoVar
OCA2_chr15_27749875_28104315	27913856	AAAGAAAG others(65): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGCAAGCAAGCA AGCAAGCAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0100 a0001c0005t0001g0105 a0001c0005t0001g0100 a0001c0005t0001g0105	2	110	0.0182	-72	c.207 others(93): Show c.2079+12199_2079+12270delGCTTGCTTGCTTGCTTGCTTGCTT GCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23						chr15	TogoVar
OPCML_chr11_132409981_133537501	133458535	ACACATAT others(65): Show ACACATATATACACGTGTGTGTGTATACACATATATACACGTGTGTGTAC ACATATATACACGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0054 a0001c0001t0025g0054	1	68	0.0147	-72	c.61+ others(89): Show c.61+73657_61+73728delCACACACACACGTGTATATATGTGTACA CACACGTGTATATATGTGTATACACACACACGTGTATATATGTG		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPTN_chr10_13095163_13143308	13115420	ATATATAT others(65): Show ATATATATAATATAGAATATATATAATATATTCTATATTATATAATATAG AATATATATAATATATTCTATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03540.hp2 HG03130.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0015 a0002c0003t0001g0336 a0001c0001t0001g0015 a0002c0003t0001g0336	2	418	0.0048	-72	c.553 others(87): Show c.553-840_553-769delTAATATAGAATATATATAATATATTCTATA TTATATAATATAGAATATATATAATATATTCTATATTATATA		OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
OR1F1_chr16_3183204_3211556	3194371	AGTACCAT others(65): Show AGTACCATGTATGTACAAGGATGTTTTATTGCAGTAATTTTGTTCAAAAA CGGGAAGGGAGATGACCATGAAT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	328	0.0031	-72	c.-13 others(89): Show c.-13+3035_-13+3106delGTACCATGTATGTACAAGGATGTTTTAT TGCAGTAATTTTGTTCAAAAACGGGAAGGGAGATGACCATGAAT		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3						chr16	TogoVar
OR2M3_chr1_248192265_248217925	248213423	ATGTATAT others(65): Show ATGTATATATATATATGTATATATATATATGTATATATATATATGTATAT ATATATATGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG01243.hp2 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0007 a0001c0002t0010g0007	2	410	0.0049	-72	c.94 others(83): Show c.9418_*9489delTGTATATATATATATGTATATATATATATGTATA TATATATATGTATATATATATATGTATATATATATATG		OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding					499		chr1	TogoVar
OR4N4C_chr15_21646844_21657968	21653406	AATATATT others(65): Show AATATATTTTTATATATTTATAAATATATATTTTTATATATTTATAAATA TATATTTTTATATATTTATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG02056.hp2 others(12): Show HG01167.hp2 HG01884.hp1 HG02056.hp2 HG02523.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 NA18986.hp1 NA19003.hp2 NA19056.hp2 NA19059.hp1 NA19062.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0004 a0002c0010 a0003c0002 others(1): Show a0001c0004 a0002c0010 a0003c0002 a0004c0005	a0001c0004t0002 a0002c0010t0001 a0003c0002t0001 others(1): Show a0001c0004t0002 a0002c0010t0001 a0003c0002t0001 a0004c0005t0002	a0001c0004t0002g0000 a0002c0010t0001g0000 a0003c0002t0001g0000 others(1): Show a0001c0004t0002g0000 a0002c0010t0001g0000 a0003c0002t0001g0000 a0004c0005t0002g0000	15	216	0.0694	-72	c.52 others(81): Show c.522_*593delATATATTTTTATATATTTATAAATATATATTTTTAT ATATTTATAAATATATATTTTTATATATTTATAAAT		OR4N4C	ENSG00000279408.3	transcript	ENST00000623441.1	protein_coding					439		chr15	TogoVar

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